In 1993, DNA evidence played a critical role in solving a murder case in Idar-Oberstein, Germany, where a 62-year-old woman was found strangled. The analysis revealed that two other people were involved, hinting at a female suspect.
Fast forward to 2007, the infamous ‘Phantom of Heilbronn’ case surfaced in Germany, linking a woman’s DNA to 41 different crimes, sparking a massive manhunt. Ultimately, it was revealed that the phantom was a factory worker producing contaminated DNA swabs.
Turi King states, “DNA is not the silver bullet people think it is,” emphasizing its limitations as well as its strengths in solving criminal cases.
“You almost certainly carry the DNA of a loved one or work colleague with you.”
Dr. King highlights the impact of DNA analysis in historical cases, including the identification of King Richard III’s remains in 2012 through advanced genetic techniques.
DNA collected at crime scenes does not necessarily confirm involvement, as seen in the Amanda Knox case, where misinterpretations of DNA evidence led to wrongful convictions.
The book serves as a reminder of the dual nature of DNA analysis: while it offers powerful insights, it also comes with inherent risks of misinterpretation. Dr. King poignantly notes that the case of Knox illustrates how sensitive DNA detection can lead to wrongful accusations.
Additional Insights on Genetics
Image from the film Gattaca
Gattaca
A thought-provoking film on genetic destiny directed by Andrew Niccol, still relevant today.
Image from the TV Series Orphan Black
Orphan Black
A series that explores the implications of cloning and genetic identity.
A significant genetic study has unveiled that Australia’s so-called “wild dogs” are predominantly dingoes, redefining the discussions surrounding conservation and wildlife management in the region.
Australian dingo. Image credit: Charcolot.
“Dingoes fulfill a vital ecological role in the Australian ecosystem, being the only terrestrial apex predator on the mainland (and some offshore islands) since their arrival over 3,000 years ago,” stated Yassin Souilmi, a researcher at the University of Adelaide.
“They hold immense cultural significance for many Indigenous Australians, frequently appearing in ancestral songlines as essential contributors to ecological and cultural balance.”
“However, dingoes have historically clashed with livestock farmers since the colonial era (the 1800s), leading to extensive dingo management strategies implemented throughout Australia.”
In a groundbreaking new study, researchers examined over 300 free-roaming dogs across Australia and discovered that only 11.7% of their DNA originated from domestic dogs.
These domestic DNA levels were highest in southeastern Australia, particularly in Victoria and New South Wales, while being significantly lower in remote northern and western regions.
“Over the decades, various genetic tests have produced conflicting results regarding the composition of dingoes, which are descended from European dogs and free-roaming animals,” Dr. Souilmi explained.
“Our research utilized pre-colonial dingo DNA as a true benchmark to clarify this discrepancy, concluding that the majority of free-roaming dogs in Australia are indeed primarily dingoes.”
This revelation is supported by ancient DNA records and has profound implications for species classification and population management.
“The term ‘wild dog’ obscures crucial biological and cultural distinctions. Dingoes are fundamentally different from feral dogs,” Dr. Souilmi emphasized.
“Future wildlife management strategies should incorporate local insights and work closely with Australia’s Indigenous communities, who have long regarded dingoes as companions and relatives.”
This innovative testing technology maintains accuracy with a minimal number of DNA markers, paving the way for large-scale, cost-effective ancestry screening.
“Our test’s reliability with minimal markers means that ancestry screening can now be routinely employed,” explained lead author Dr. Shamsunder Ravishankar, also from the University of Adelaide.
“Wildlife organizations can now achieve dependable results without needing extensive whole-genome budgets.”
The study categorized Australian dingoes into eight genetically distinct populations, including two newly identified groups in northern and central Australia.
Considering domestic dog ancestry, the findings revealed that southeastern populations exhibit far less genetic diversity compared to those in northern and central regions.
Dingoes from the Mallee (Great Desert) in northwest Victoria stood out, showcasing even lower ancestral diversity than the small, isolated Kugari population.
“Eliminating the domestic dog component alters our understanding,” stated co-author Dr. Ní Chau Nguyen, also from the University of Adelaide.
“While the ancestors of domestic dogs increased the overall genetic variation among southeastern dingoes, they simultaneously compromised some genetic traits that distinguish these dingoes.”
“Our research also corroborated previous studies indicating that gene flow from European dogs to dingoes peaked in the mid-20th century, especially during the 1960s, coinciding with rapid post-war population growth and agricultural expansion in southeastern Australia.”
For detailed findings, see the published study in the journal Conservation Letters.
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Shamsundar Ravishankar et al. 2026. European dog admixture inference based on paleogenomics allows for scalable dingo conservation. Conservation Letters 19 (3): e70052; doi: 10.1111/con4.70052
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This Victorian-era chromolithograph illustrates Boudica’s revolt against the Romans around 60 AD.
Credit: Popper Photo (Getty Images)
Recent studies highlight the limited genetic influence of Roman occupation on modern British populations, revealing surprising insights into Britain’s genetic history.
“The Roman conquest’s genetic impact seems to be far less significant than previously thought,” says Rachel Pope, a PhD candidate at the University of Liverpool, who wasn’t involved in the research.
<p><a href="https://www.crick.ac.uk/research/find-a-researcher/marina-soares-da-silva">Marina Soares da Silva</a> and her team at the Francis Crick Institute analyzed the genomes of 1,039 ancient Britons, dating from the Bronze Age (2550 BC - 1150 AD) following the Norman Conquest. Roman rule in Britain lasted from 43 AD to 410 AD.</p>
<p>The findings indicated that nearly 100% of individuals living during the Roman period shared ancestry solely with Iron Age Britons, with only 20% exhibiting genetic contributions from outside Britain.</p>
<p>"Given the extensive lifestyle changes during Roman times, the mere 20% genetic influence is astonishing," notes <a href="https://www.lancashire.ac.uk/academics/duncan-sayer">Duncan Thayer</a> from the University of Lancashire, who wasn't part of the study. "I anticipated a more diverse genetic mix."</p>
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<p>"This implies that the Roman conquest was less about altering genetics and more about transforming lifestyles," Thayer explains. "Their focus was on converting Britain into a series of exploitable economies, driven by a select few."</p>
<p>This aligns with previous research indicating <a href="https://academic.oup.com/mbe/article/41/9/msae168/7741671?login=false">minimal Roman genetic influence in rural regions</a>.</p>
<p>One notable area where the Romans influenced British society was in burial customs. Pre-Roman evidence suggests that women had significant autonomy, with practices such as matrilocality where women remained in their ancestral homes as men migrated.</p>
<p>In Iron Age Britain, burial practices typically followed maternal lineage, with individuals buried alongside maternal relatives rather than spouses. Silva and her research team discovered more sites in southwestern England evidencing these matrilineal burials extending into the late Iron Age.</p>
<p>"This discovery was unexpected, particularly the implications in the western regions," says Pope.</p>
<p>However, Roman burial sites displayed no discernible family patterns, suggesting a departure from Iron Age customs and lifestyles.</p>
<p>Pope notes that the enduring legacy of Boudica, the Aisni queen who led a revolt against the Roman Empire around 60 AD, reflects this loss. "Her story symbolizes a woman protesting against the inability to inherit property."</p>
<p>After the Romans departed, significant genetic changes occurred. Between 400 and 600 AD, various Germanic tribes like the Angles, Saxons, and Jutes migrated to and established dominance over modern England. The Anglo-Saxon populace remained influential until the Norman Conquest in 1066.</p>
<p>Silva’s analysis revealed a prominent influx of ancestry tied to Germanic-speaking tribes by the 6th century, impacting over 70% of the Anglo-Saxon demographic in southern Britain.</p>
<p>This observation parallels findings by <a href="https://www.nature.com/articles/s41586-022-05247-2">Thayer's research team</a>, where about 76% of genomes from the same era indicated similar genetic markers.</p>
<p>The results indicated a clustering of ancestral profiles, establishing a population labeled as early medieval Britain I. From the 8th to 10th century, this genetic lineage saw a decline, with increased presence from central and southern European ancestries.</p>
<p>The genetic influence of the Viking population was shown to be limited, despite the establishment of the Danelaw region, which was under Viking control from the 9th to 11th centuries. During this period, only 4% of Britons could trace their ancestry back to Iron Age Scandinavia.</p>
<p>This trend can be accounted for through two stages of Viking incursions, Thayer affirms. In earlier raids, genetics were predominantly Scandinavian, as Vikings captured individuals from Ireland and England. Conversely, later invasions resulted in a diverse genetic mix due to existing populations in Britain.</p>
<p>Silva's team analyzed 69 genomes from the post-Norman Conquest period, discovering similar evidence of genetic stagnation post-invasion, although most genomes were from a singular site in Leicester, limiting generalizability across the country.</p>
<p>Pope concludes that these findings illustrate the dynamic genetic influx into the UK from diverse populations across Europe. "What does it mean to be English?"</p>
<p>Thayer suggests, "Perhaps we are imposing modern concepts of ethnicity that held different significances in the past."</p>
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Utilizing environmental DNA (eDNA) from depths exceeding 4 km off the coast of Western Australia’s Ningaloo, researchers have identified an astounding 226 species spanning 11 major animal groups. This includes remarkable finds like the giant squid, which hasn’t been previously documented in the region, as well as species believed to be new to science.
When a giant squid, measuring 10 to 12 feet long, approaches Medusa’s e-jelly lure, it realizes the e-jelly is not bait and retreats. Image credit: Edie Widder and Nathan Robinson.
“Our findings underscore the vast unknowns within Australia’s deep sea ecosystems,” stated Dr. Georgia Nester, the lead researcher from Curtin University, now enrolled at the University of Western Australia.
Dr. Nester and her team from the Schmidt Ocean Institute’s R/V Falco conducted a survey of the Cape Ranges and Croats submarine canyon, roughly 1,200 km north of Perth, collecting over 1,000 samples from depths as deep as 4,510 m.
Employing eDNA techniques, they documented the species inhabiting these deep-sea environments without direct observation or capture.
Among their significant discoveries was evidence of the giant squid (Architeuthis dux), detected across six separate samples from both the Cape Mountains and Cloetes Valley, alongside pygmy sperm whales (Kogia breviceps) and beaked whales (Ziphius cavirostris).
“Only two previous records of giant squid exist in Western Australia, with no sightings for over 25 years,” noted Dr. Lisa Kirkendale from the Western Australian Museum.
“This marks the first detection of a giant squid using the eDNA protocol along the coast of Western Australia and represents the northernmost record of Architeuthis dux in the eastern Indian Ocean.”
Overall, researchers recorded a total of 226 species from 11 major animal groups, which included rare deep-sea fish, cnidarians, echinoderms, squid, marine mammals, and many more.
They also identified numerous species in Western Australian waters, such as the sleeper shark, previously unrecorded, as well as the faceless cask eel (Typhronus) and thin snaggletooth (Ladinastes demus).
“While the discovery of giant squid captivates public imagination, it’s part of a broader ecological puzzle,” explained Dr. Nester.
“We found numerous species that don’t align with existing records, indicating a significant scope of deep-sea biodiversity that remains to be uncovered.”
Curtin University researcher Dr. Zoe Richards noted, “eDNA has the potential to revolutionize how scientists explore and conserve deep-sea environments.”
“These ecosystems are vast, remote, and costly to study, yet they confront increasing threats from climate change, fishing, and resource extraction.”
“eDNA offers a scalable, non-invasive method to gain essential insights into the organisms residing there, crucial for informed conservation efforts.”
“You can’t protect what you don’t know exists. The sheer volume of discoveries, including megafauna, emphasizes that we have much to learn about marine life in the Indian Ocean.”
The team’s findings are published in the journal Environmental DNA.
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Georgia M. Nester et al. 2026. Environmental DNA reveals diverse and expanding biodiversity in underwater canyons in the eastern Indian Ocean. Environmental DNA 8 (2): e70261; doi: 10.1002/edn3.70261
When researchers examine intricate human diseases like cancer, a crucial step involves comparing the DNA sequence of a affected individual to a template of genetic information from a healthy individual known as the reference genome. This process helps identify changes in the DNA, referred to as variations. Researchers strive to label the disease accurately to uncover its causes and how it responds to various treatments.
Since the year 2000, the prevailing human reference genome has been incomplete due to technological limitations in accessing challenging genomic regions. Consequently, some changes detected by scientists were false positives, complicating the identification of variants responsible for tumor growth.
In 2022, the Society of Scientists heralded the advent of the first truly complete human genome, employing a new methodology that is less fragmented than prior techniques. Since then, numerous researchers have begun to explore the benefits of utilizing this new genome in lieu of older reference genomes for studying complex genetic diseases like cancer.
Recent hypotheses from researchers in Canada and the United States suggest that the complete human genome can more accurately detect substantial mutations, or structural variants, providing superior cancer detection compared to standard reference genomes. If our genome were a textbook, these mutations would manifest as missing, added, or reversed paragraphs or pages. Studies have shown that structural mutations can lead to cancer by amplifying cancer-promoting genes, causing abnormal gene fusions, and disabling genes that naturally suppress cancer growth.
The researchers validated their hypothesis using established cancer cell lines in combination with a cancer-free control known as COLO829. This cell line serves as a benchmark for analyzing structural mutation data. The research team scrutinized four independent cell line samples sequenced by different laboratories and analyzed three tumor samples from patients with blood cancer, brain cancer, and ovarian cancer to assess their findings in a real-world clinical context. Additionally, they compared the cancer’s DNA sequence to both reference genomes and employed four distinct computational tools to identify structural variations.
The new complete human reference genome contains approximately 200 million additional base pairs of DNA sequence, addressing gaps and completing regions missing from the standard reference genome. Upon manual inspection of the COLO829 sample results, researchers noted a significant reduction in incorrectly identified structural variants—down from 225 to only 83 when utilizing the complete reference genome. This indicates a marked enhancement in our capability to detect structural variations.
While the new human reference genome has improved the accuracy of DNA change identification, it lacks the extensive medical annotations present in older reference genomes used to associate DNA changes with diseases. To bridge this gap, the researchers employed a tool called Levio SAM2 to match and lift over results between the new and old genomes. This strategy allows researchers to leverage the enhanced accuracy of new genomes while retaining the detailed medical knowledge linked to older genomes, effectively yielding the best of both worlds.
The integrated approach was applied to three patient samples, revealing that fewer cancer-specific mutation candidates necessitated manual clinical review compared to analyses based solely on standard reference genomes. The fewer candidates streamline the challenging process of pinpointing cancer-causing mutations amidst a myriad of false alarms. One notable mutation, spanning 609,000 base pairs and affecting a gene previously associated with several cancers, was detected in a patient’s sample. This variant exhibited a weak signal in the older reference genome but strong evidence in the new reference genome.
In conclusion, the researchers assert that their method optimizes the detection of structural mutations in cancer by minimizing false positives, aiding physicians in prioritizing clinically significant mutations. They emphasized that reducing false positives is vital for analyzing patient samples, as filtering out errant mutations to isolate genuine cancer drivers requires both time and expertise. Although their lifting strategy extended analysis time by approximately 50% compared to using only the older reference genome, researchers deemed this trade-off acceptable due to the substantial accuracy improvements observed.
NASA has successfully landed five rovers on Mars. The Curiosity rover
landed in Gale Crater in 2012, unveiling rocks formed by a shallow lake approximately 3.6 billion years ago, hinting at a once habitable environment. Curiosity continues its mission, while in 2021, the Perseverance rover
was launched to explore Jezero Crater, where traces of past life may be found in sediments from a lake dating back 3.7 billion years.
within Martian lake rocks. As all life on Earth is composed of similar organic molecules, astrobiologists speculate that these Martian compounds could lend credence to the existence of ancient life on Mars. However, it is crucial to note that organic molecules can also be formed through non-biological processes, implicating the need for further concrete evidence to definitively identify ancient Martian life.
Researchers at the Center for Astrobiology in Madrid, Spain, are investigating whether DNA
can serve as a biomarker in Martian rocks. They argue that DNA is utilized by all life forms on Earth and is “the most critical biological molecule for life,” uniquely formed by living organisms. Additionally, factors that typically accelerate DNA degradation on Earth—such as water, heat, and microorganisms—are absent in Mars’ cold, dry climate .
The greatest challenge in locating ancient DNA on Mars stems from the planet’s surface, which is consistently bombarded by intense cosmic
that can rapidly degrade DNA and other organic molecules. Past studies have shown that DNA is more likely to endure radiation damage when protected within rock
, prompting researchers to test whether Mars-like rocks could shield DNA from radiation levels akin to those on the planet for about 100 million years.
Direct access to Martian lake rocks is anticipated through future sample return missions such as NASA/ESA’s Mars Sample Return
mission. Researchers collected rocks from various geological ages formed in lakes and shallow marine environments globally. They specifically targeted rocks containing remnants of an ancient microbial community known as
comparable to those identified in Martian geological samples, including lake microbial rocks from Mexico aged 2,800 years, shallow-water microbial rocks from Morocco aged 541 million years, and iron-rich rocks from Ontario, Canada, aged 2.93 billion years, with characteristics similar to those in Jezero Crater on Mars.
The team crushed the rocks, dividing them into six samples sealed in glass containers. They exposed three samples from each set to radiation levels reflective of 136 million years on the Martian surface, retaining the remaining three for comparison. The DNA was extracted from each sample and analyzed using nanopore sequencing , a method that effectively identifies short DNA fragments while assigning a quality score based on the reliability of the sequences.
The analysis indicated that unirradiated samples, presenting higher organic carbon content, also contained a greater abundance of DNA fragments. The findings suggest that the DNA originates from modern microbial communities that recently inhabited the rocks, while the organic carbon represents remnants from ancient microbes. Enhanced availability of nutrients correlates with increased microbial growth, solidifying the view that organic-rich sites such as ancient crater lakes are prime candidates for life-detection missions.
In the irradiated samples, DNA quality diminished and became fragmented from radiation exposure. For instance, the irradiated samples of Mexican lake microorganisms exhibited average quality scores 53% lower and DNA reads 85% shorter than unirradiated samples. However, the research team successfully identified which microorganisms contributed an estimated 2% to 9% of the DNA in these irradiated samples.
The researchers concluded that identifiable DNA fragments could potentially persist in Martian rocks for over 100 million years. They advocate for the application of this sensitive sequencing technology in forthcoming Mars rovers to search for evidence of past life and evaluate the planet’s biological safety. While the results are promising for astrobiologists, some caveats remain. Martian rocks may harbor toxic salts that could harm DNA integrity. Furthermore, scientists voice concerns regarding pollution from terrestrial life. The research team recommends that future investigations develop stringent protocols for eliminating salts from Martian rock samples and assessing possible external contamination.
The Shroud of Turin is engraved with an image resembling Jesus Christ.
Public Domain/Art Collection 2/Alamy
Recent DNA analysis has unveiled a significant number of contaminants—animal, plant, and human—on the Shroud of Turin, which complicates the narrative surrounding this enigmatic relic, believed to be the cloth in which Jesus Christ was wrapped following his crucifixion over 2,000 years ago.
Stretching 4.4 meters long and 1.1 meters wide, the Shroud of Turin is considered one of the most renowned and debated Christian artifacts globally. Its first documented appearance was in France during 1354, after which it resided for nearly 5,000 years in the Basilica of St. John the Baptist in Turin, Italy.
In 1988, researchers conducted radiocarbon dating along with accelerator mass spectrometry techniques, concluding that the Shroud was created between 1260 and 1390. This finding brought into question the identity of the figure depicted on the cloth as Jesus, although many Christian scholars continue to dispute this late medieval dating.
In a 2015 study by Gianni Barcaccia and colleagues from the University of Padova in Italy, material from the artifacts sampled in 1978 was reexamined. The researchers first proposed the possibility that the cloth may have origins in India.
Currently, Mr. Barcaccia—who opted not to be interviewed for this publication—has spearheaded a new analysis of the material from 1978, revealing that the Shroud contains a remarkable spectrum of medieval and modern DNA.
The genetic materials identified include DNA from domestic animals like cats, dogs, chickens, cows, goats, sheep, pigs, and horses, alongside wild species such as deer and rabbits.
Additionally, traces of various fish species such as mullet, Atlantic cod, and stingrays were discovered, as well as marine crustaceans, flies, aphids, and arachnids like dust and skin mites.
Common plant DNA located within the Shroud includes species like carrots, wheat, peppers, tomatoes, and potatoes, suggesting these were possibly introduced to Europe following exploratory voyages to Asia and the Americas.
However, pinpointing the timeline of these contaminating events regarding animals and plants remains elusive.
The research team also isolated human DNA from various individuals who came in contact with the Shroud, notably including those from the 1978 sampling. “The presence of multiple individuals’ DNA complicates the task of identifying the Shroud’s original DNA,” the team noted.
Nearly 40% of the human DNA identified on the Shroud appears to be of Indian origin, possibly resulting from historic interactions or from Romans importing linen from regions near the Indus Valley, report Barcaccia and colleagues.
“The DNA findings on the Shroud of Turin indicate extensive exposure in the Mediterranean area, potentially suggesting that the fabric may have been produced in India,” the researchers articulated.
Anders Goeterström from Stockholm University stated that preliminary studies place the Shroud’s date in the 13th century, a timeframe that is widely accepted in the scientific community. “Despite discussions surrounding the 1988 radiocarbon dating, most researchers find it sufficiently credible,” he explained.
Goeterström remains skeptical about the cloth’s potential Indian origins. He asserts, “There is still no compelling evidence to dismiss that the Shroud is French and dates from the 13th or 14th century,” he concluded.
“This significant relic has its own unique history, which might prove to be more intriguing than its legendary roots lacking scientific backing.”
The Shroud of Turin is inscribed with an image of a man believed to resemble Jesus Christ.
Public Domain/Art Collection 2/Alamy
Recent DNA analysis has revealed a wide array of animal, plant, and human contaminants on the Shroud of Turin, complicating the narrative surrounding this enigmatic relic that is claimed to be the burial cloth of Jesus Christ from over 2,000 years ago.
Spanning 4.4 meters in length and 1.1 meters in width, the Shroud stands as one of the most infamous and controversial Christian artifacts globally. It was first documented in France in 1354, and has since resided at the Basilica of St. John the Baptist in Turin, Italy, for nearly 5 centuries.
In 1988, scientists utilized radiocarbon dating and accelerator mass spectrometry to conclude that the Shroud was created between 1260 and 1390, thereby raising questions about its association with Jesus. Nonetheless, this late medieval dating remains a point of contention among some Christian scholars.
In 2015, Gianni Barcaccia and a team at the University of Padova in Italy analyzed samples taken from the Shroud in 1978 and proposed that the cloth might have originated from India.
Currently, Mr. Barcaccia, who opted not to be interviewed, leads a renewed study re-examining the 1978 samples. His team has uncovered diverse DNA from both medieval and modern sources preserved within the Shroud.
The genetic material includes DNA from domesticated animals like cats, dogs, chickens, cows, goats, sheep, pigs, and horses, as well as wild species such as deer and rabbits.
The researchers also identified several fish species, including mullet and Atlantic cod, along with marine crustaceans and insects like flies and skin mites.
Common plant DNA found in the Shroud consists of carrots, various wheat types, peppers, tomatoes, and potatoes—likely introduced to Europe post-exploration of Asia and the Americas.
However, pinpointing the timeline of these contamination events remains elusive.
Human DNA samples were traced back to many individuals who handled the Shroud, including the 1978 sampling team. The researchers noted, “The Shroud’s contact with multiple individuals complicates the possibility of identifying its original DNA.”
Almost 40% of the human DNA is of Indian origin, which may stem from historical trade routes or Romans importing linen from areas near the Indus Valley, Barcaccia and his team noted.
“The DNA evidence on the Shroud of Turin indicates that it may have been significantly exposed in the Mediterranean region, and the fabric may indeed have been produced in India,” they concluded.
Anders Goeterström from Stockholm University noted that while early studies date the Shroud to the 13th century, this timeframe is widely accepted in the scientific community. “Although there’s ongoing debate regarding the 1988 radiocarbon date, most researchers consider it robust,” he stated.
Goeterström remains skeptical about the cloth’s Indian origins, asserting, “There’s currently no evidence to suggest that the Shroud is anything other than a French artifact from the 13th or 14th century.”
“As a significant relic, the Shroud has its own history, which may be more fascinating than the unsupported legendary narratives,” he concluded.
Since British pop legend David Bowie posed the question in 1971, “Does life exist on Mars?”, NASA has successfully landed five rovers on the Red Planet. The Curiosity rover, which touched down in Gale Crater in 2012, uncovered rocks formed in a shallow lake approximately 3.6 billion years ago, indicating a once habitable environment. In 2021, the Perseverance rover began exploring Jezero Crater, where traces of ancient life may be found at the base of a lake dating back 3.7 billion years.
Both Curiosity and Perseverance have discovered evidence of complex carbon-containing molecules within Martian lakebed rocks. Organisms on Earth consist of similar organicmolecules, leading astrobiologists to speculate that these Martian compounds might indicate past life. However, it’s important to note that organic molecules can also arise from non-biological processes, such as interactions between gases and minerals at high temperatures. Thus, more conclusive evidence is needed to confirm the existence of ancient Martian life.
A recent study by researchers at the Center for Astrobiology in Madrid, Spain, explored whether DNA could function as a potential biomarker in Martian rocks. They posited that DNA is universal among Earth’s life forms and deemed it “the most crucial biological molecule for life.” Only life forms create this molecule. Furthermore, many conditions that degrade DNA quickly on Earth—such as the presence of water, heat, and microorganisms—are absent in the cold, dry climate of Mars.
One major obstacle in detecting ancient DNA on Mars is the planet’s surface, which is constantly bombarded by intense shock waves. Cosmic and solar radiation can rapidly degrade DNA and organic molecules. Prior research has indicated that DNA is more likely to survive radiation damage when protected within rock. Hence, the researchers aimed to examine whether Mars-like rocks could shield DNA from radiation levels equivalent to around 100 million years of exposure on the planet’s surface.
Scientists will not gain direct access to Martian lake rocks until future sample return missions, such as NASA/ESA’s Mars Sample Return or the Chinese Astronomy-3 mission, are conducted. The researchers collected samples from various rock ages formed in lakes and shallow marine environments worldwide. They specifically targeted rocks with remnants of an ancient microbial community known as microorganisms and a total organic carbon concentration similar to that of Martian rocks. The samples included 2,800-year-old lake rocks from Mexico, 541-million-year-old shallow-water rocks from Morocco, and 2.93-billion-year-old iron-rich rocks from Ontario, Canada, featuring minerals akin to those in Jezero Crater on Mars.
The team crushed the rocks, dividing them into six samples each, sealed in glass bottles. They exposed three samples to radiation levels equivalent to 136 million years on the Martian surface, while leaving the other three unexposed for comparison. DNA was extracted from each sample and examined using a technique that enables reliable identification of short DNA fragments known as nanopore sequencing. This method also generates quality scores for each DNA fragment to assess the accuracy of specific DNA sequences.
The analysis revealed that unirradiated samples contained higher quantities of DNA fragments, correlating with a greater presence of organic carbon. This suggests that the DNA originated from contemporary microbial communities residing in the rocks, while the organic carbon was derived from long-deceased microbes. Thus, the researchers inferred that modern microbes were consuming ancient organisms; the more food available, the larger the microbial populations grow. These findings support the proposition that rich organic carbon sites like ancient crater lakes are prime targets for future life-detection missions.
In irradiated samples, DNA quality diminished and fragmented due to radiation exposure. For instance, the DNA from irradiated samples of Mexican lake microorganisms exhibited quality scores that were, on average, 53% lower, with DNA reads averaging 85% shorter compared to unirradiated samples. Nevertheless, the research team managed to identify microorganisms that contributed around 2% to 9% of the DNA in the irradiated samples, despite significant degradation.
The researchers concluded that identifiable DNA fragments could persist in Martian rocks for over 100 million years. They proposed that this sensitive sequencing approach should be implemented in future Mars rovers to search for evidence of past life and evaluate the planet’s biological viability. While these results are promising for astrobiologists, challenges remain, such as the presence of toxic salts that could further degrade DNA and concerns regarding pollution from terrestrial life. The research team recommended developing stringent protocols for decontaminating Martian rock samples and addressing external contamination.
When scientists analyze complex human diseases, such as cancer, a crucial step involves comparing the DNA sequence of a diseased individual to a reference genome from a healthy individual. This analysis helps identify genetic variations that may contribute to the disease, enabling researchers to accurately categorize the illness and understand its treatment responses.
Since the year 2000, the standard human reference genome has been incomplete, limiting researchers’ ability to access certain challenging genomic regions. This resulted in false positives, complicating the identification of true genetic variants responsible for tumor growth.
In 2022, the Society of Scientists announced a groundbreaking achievement: the first truly complete human genome, generated using advanced technology that minimizes fragmentation. This development has prompted extensive research into the benefits of utilizing new genomes in the study of complex genetic diseases, including cancer.
Researchers based in Canada and the United States proposed that employing the complete human genome could enhance the detection of structural variants, allowing for more accurate cancer diagnosis compared to traditional reference genomes. This analogy likens genomic mutations to missing or altered paragraphs in a textbook; structural mutations can lead to cancer by duplicating oncogenes, causing abnormal gene fusions, and inactivating tumor-suppressor genes.
To validate their hypothesis, researchers utilized established cancer cell models, specifically cancer cell lines alongside the cancer-free control known as COLO829. This particular cell line serves as a benchmark for evaluating new mutation detection methods. They analyzed multiple samples of the COLO829 cell line sequenced by different laboratories, as well as tumor samples from patients diagnosed with blood cancer, brain cancer, and ovarian cancer, thereby ensuring a real-world context for their findings.
The complete human reference genome incorporates approximately 200 million additional base pairs, effectively filling in gaps and rectifying missing regions from the previous standard. When the COLO829 sample was examined, the number of structural variants incorrectly identified using the outdated reference genome significantly decreased, from 225 to just 83 with the new genome. This advancement greatly enhances our capability to detect structural variations.
The research team noted that while the new human reference genome improves the precision of DNA change identification, it contains less labeled medical information compared to the older genome. To address this, they employed a tool called Levio SAM2 to align results from new and previous genomes, thereby combining the enhanced accuracy of new genomes with the extensive medical knowledge of older references, yielding optimal results.
The team applied this integrated approach to three patient samples and discovered that the number of cancer-specific mutation candidates needing manual clinical review was significantly reduced compared to using traditional reference genomes. This reduction streamlines the labor-intensive process of identifying true cancer-causing mutations, with one large variant, 609,000 base pairs in length, identified in a patient’s sample. This variant exhibited minimal signals in the old reference genome but displayed clear evidence in the new genome.
In conclusion, the researchers’ approach enhances structural mutation detection in cancer by minimizing false positives, allowing physicians to prioritize clinically significant mutations. They emphasized that lowering false positives is crucial in analyzing patient samples, and filtering out spurious mutations to isolate genuine cancer drivers requires considerable time and expertise. Although their liftover strategy increased analysis time by approximately 50% compared to solely using the old reference genome, researchers deemed this trade-off acceptable due to the considerable improvements in accuracy.
Samples retrieved from the C-type asteroid (162173) Ryugu by JAXA’s Hayabusa 2 mission reveal the presence of all five essential nucleobases: purines (adenine and guanine) and pyrimidines (cytosine, thymine, and uracil). This finding suggests that fundamental aspects of life’s chemistry might have a cosmic origin.
Hayabusa2’s image of asteroid Ryugu taken from a distance of 6.9 miles, featuring a large crater at its center. Image credit: JAXA / University of Tokyo and partners.
Nucleobases are critical components of DNA and RNA, the molecules essential for life on Earth.
The detection of these compounds in pristine extraterrestrial materials enables scientists to explore how they form in non-biological contexts and how they traverse the solar system.
Prior analyses of Ryugu samples identified the nucleobase uracil. In comparison, investigations of materials from meteorites and the near-Earth asteroid Bennu have uncovered a broader spectrum of nucleobases.
“To properly evaluate the nucleobases within extraterrestrial materials, it’s crucial to examine samples minimally impacted by terrestrial factors,” explained Dr. Toshiki Koga from the Japan Agency for Marine-Earth Science and Technology and his team.
“In this scenario, raw asteroid samples that haven’t come into contact with Earth’s atmosphere hold significant scientific importance.”
Carbonate-rich particles found in the material samples from the near-Earth asteroid Ryugu. Image credit: Pilorget and colleagues, doi: 10.1038/s41550-021-01549-z.
The recent study involved analyzing two samples from Ryugu, collected by the Hayabusa 2 mission.
Both samples showed the presence of all five standard nucleobases: adenine, guanine, cytosine, thymine, and uracil.
The team compared their results with findings from the Murchison and Orgueil meteorites, as well as samples from the asteroid Bennu.
Significant differences in the relative quantities of nucleobases were observed.
Specifically, Ryugu exhibited roughly equal amounts of purine and pyrimidine nucleobases, whereas the Murchison meteorite showed a predominance of purines, while Bennu and Orgueil samples were richer in pyrimidines.
These variations reflect the distinct chemical, environmental, and evolutionary pathways of each parent body.
The identification of these nucleobases in asteroid and meteorite samples indicates their widespread presence across the solar system, despite chemical variations.
This discovery implies that carbonaceous asteroids may have played a role in shaping Earth’s early chemical landscape.
“Studying the original distribution and isotopic composition of nucleobases in other carbonaceous meteorites will yield key insights into the origins of these compounds and the astrochemical processes involving nitrogen-based molecules,” the researchers noted.
“The universal detection of all five standard nucleobases in Ryugu and Bennu samples underscores the potential for these extraterrestrial molecules to have contributed to the organic material that facilitated prebiotic molecular evolution, ultimately leading to the emergence of RNA and DNA on early Earth.”
Read the full study featured in this week’s issue of Nature Astronomy.
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Tetsuya Koga et al. A comprehensive set of standard nucleobases from the carbonaceous asteroid (162173) Ryugu. Nat Astron, published online March 16, 2026. doi: 10.1038/s41550-026-02791-z
Ancient DNA extracted from vibrant feathers found in Peru has been linked to at least four distinct species of Amazonian parrots: the scarlet macaw (Ara macao), blue and yellow macaw (Ara ararauna), red and green macaw (Ara chloropterus), and mealy amazon (Amazona farinosa). These birds were reportedly transported alive across the Andes centuries before the rise of the Inca Empire, showcasing a complex network of long-distance trade that connected Amazonian communities, high-altitude routes, and the Pacific Ocean.
A pair of scarlet macaws (Ara macao) in Costa Rica. Image credit: Julio-César Chávez / CC BY 4.0.
Discovered in Pachacamac, Peru, an ancient parrot feather lies far beyond the natural habitat of these birds, which are native to the rainforest.
“Through the integration of ancient DNA sequencing, isotope chemistry, and computational landscape modeling, we tracked the movement of these birds across diverse terrains,” explained Dr. George Oler, a researcher affiliated with the Australian National University and King’s College London.
“Our models of ancient habitats confirm that the western Andes were equally inhospitable for these species a millennium ago. These parrots thrive solely in rainforest environments, typically spanning a natural home range of about 150 kilometers.”
“The evidence that they were found on the opposite side of South America’s tallest mountain range—over 500 kilometers away—indicates human involvement, as these birds do not fly over the Andes under normal conditions.”
“Our research illustrates that multiple species of Amazonian parrots were captured in their natural habitat, transported over mountainous pathways, and survived long enough to regrow feathers along the coast.” – Dr. Oler.
Through genome analysis, researchers identified the four Amazonian parrot species from feather assemblages: scarlet macaw, blue and yellow macaw, red and green macaw, and mealy amazon, all of which traditionally inhabit tropical rainforests hundreds of kilometers from the Pacific coastline.
The journey for these birds likely took weeks or even months as traders navigated rugged mountain terrain and steep plateaus.
“Our findings provide genetic and isotopic evidence showing that these parrots were not merely traded for their feathers but were actually transported alive across challenging landscapes to significant coastal ceremonial sites,” Dr. Oler asserted.
By investigating chemical signatures within the feathers, the team discovered that the birds’ diet had shifted to include C4 plants like corn and marine proteins, implying that they continued to live post-transport over the Andes.
“Our analysis indicates that the parrots were fed a nitrogen-rich diet similar to that of their captors, clearly illustrating long-term care after their removal from the rainforest,” Dr. Oler noted.
Landscape modeling tools further unveiled trans-Andean corridors and river routes that may have facilitated avian transport, revealing a sophisticated network of overland and river exchanges.
This bird species, valued for its striking plumage, held immense cultural significance in pre-Hispanic societies and was frequently featured in rituals and elite burial practices.
“This discovery challenges previous beliefs that pre-Inca societies were isolated or fragmented,” Dr. Oler remarked. “Instead, we uncover evidence of organizational networks, ecological understanding, and logistical strategies that connected vastly differing ecosystems long before formal imperial roads established these routes.”
For further details, refer to the original publication in the journal Nature Communications.
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G. Ola et al. 2026. Ancient DNA and spatial modeling reveal pre-Inca trans-Andean parrot trade. Nat Commun 17: 2117. doi: 10.1038/s41467-026-69167-9
Two ancient wolf cubs, discovered buried in the Siberian permafrost over a decade ago, are now shedding new light on their past through rich DNA evidence hidden in their remains.
For the first time, researchers have uncovered a piece of woolly rhino meat—an animal comparable in size to modern white rhinos but with a thick furry coat—preserved in the stomach of one of the wolf puppies. The DNA from this meat and fur has remarkably survived for over 14,000 years under the ice, enabling scientists to sequence the entire genome. They published their findings in the Wednesday Journal “Genome Biology and Evolution”.
“This is the first instance where an entire genome has been reconstructed from an Ice Age animal found within another Ice Age animal,” stated study author Camilo Chacón-Duque, an evolutionary biologist from Uppsala University in Sweden. “The genome quality is exceptional and of high resolution.”
A piece of woolly rhinoceros tissue found in the stomach of a preserved wolf pup in Stockholm in 2020.love darren
The woolly rhinoceros in question went extinct approximately 14,400 years ago, just a few hundred years prior to its disappearance from the fossil record. This gives researchers a unique glimpse into the genome of a species on the brink of extinction.
“This sample represents the youngest woolly rhinoceros ever sequenced, marking the closest proximity of the species to extinction,” Chacon-Duque noted.
Evolutionary biologists have long debated whether it was human hunters or climate change that ultimately led to the woolly rhinoceros’s extinction. New genomic data indicates that the population may have been robust until its sudden decline.
Tumat-1 wolf pup in Vienna in 2018.Miech Germonpre
The first of the two small puppies was discovered by ivory hunters searching for mammoth tusks in Siberia nearly 15 years ago, with the other being found four years later.
These mummified animals, known as the “Tumat pups,” have unexpectedly aided scientists in exploring the fate of another species.
According to the research, both puppies were female and likely littermates, found just six feet apart and sharing several DNA traits, as noted in a study published in Quaternary Research magazine last year.
A section of permafrost where a Tumat wolf pup was discovered near the Russian village of Tumato in 2011. Co-author Sergei Fedorov and his colleagues are in the foreground.Sergey Fedorov
“They died at a young age, around nine weeks,” explained Anne-Catherine Wyborg Runge, co-author of the Quaternary research paper. “At that age, they still had their baby teeth.”
Initial studies suggested that thawing permafrost may have triggered landslides, entombing the wolves in ice and snow, although it’s also possible that the puppies perished due to a collapsing burrow.
“They would have been buried instantly and then frozen for 14,000 years,” noted Runge’s co-author Nathan Wales, a senior archaeology lecturer at the University of York, UK.
Interestingly, the puppies were discovered near where ancient humans hunted woolly mammoths, suggesting they might have been domesticated dogs rather than wild wolves. However, no mammoth DNA was found in the pup’s stomach. Researchers believe one pup’s last meal was woolly rhinoceros meat, while the other had recently eaten a bird, leaving behind rhino meat and some feathers in the permafrost.
Study co-authors Sergei Fedorov and Mikkel Sinding conducted an autopsy in Vienna in 2018 on a Tumat wolf pup whose stomach contained woolly rhinoceros tissue fragments.Miech Germonpre
In a recent study published Wednesday, Chacón-Duque sequenced resilient chunks of meat from the animal’s last meal.
“This piece had remained in the pup’s stomach for years. It’s truly remarkable,” Runge remarked.
Although complete woolly rhinoceros genomes are rare, researchers compared their findings with two other high-quality genomes from rhinos that went extinct approximately 18,000 and 49,000 years ago.
Rab Dalen, co-author of the new study, poses with a woolly rhinoceros horn.Irina Kirilova
Chacón-Duque and team detected no signs of inbreeding or harmful mutations within the population, indicating it was robust.
“They haven’t identified any indicators suggesting population collapse, which is peculiar considering the species went extinct,” noted Wales, an ancient DNA expert not involved in the study.
Several centuries after the woolly rhinoceros roamed these areas, a significant warming phase commenced in the Northern Hemisphere, marking the end of the Ice Age. Study authors believe this newly sequenced DNA supports the hypothesis that climate change contributed to the woolly rhino’s extinction.
J Camilo Chacón Duque, co-author of the groundbreaking study.Natalia Romagosa
Chacón-Duque posits that the rising temperatures likely exert stress on cold-adapted populations, and human expansion could have facilitated the spread of diseases affecting the woolly rhino.
“All these factors likely interacted synergistically, contributing to the species’ ultimate demise,” Chacón-Duque concluded. “Without a doubt, climate change played a significant role.”
Mick Westbury, an associate professor and expert on ancient rhinos from the Technical University of Denmark, agrees with the theory’s plausibility.
However, Westbury points out that rare ancient DNA can pose interpretation challenges and that generational changes can heavily impact a species’ genetics. The woolly rhinoceros may have been at risk even if genetic analyses did not immediately indicate it.
“Sometimes, genomics alone doesn’t provide the complete picture,” Westbury remarked.
Nonetheless, Westbury suggests that these findings could offer vital insights for conservation efforts as human-induced climate change becomes an increasing threat to existing species.
“Our results indicate that the woolly rhino does not appear to be on the brink of extinction,” Westbury noted. “A species may seem genetically viable on the surface but still face vulnerabilities.”
Rare Y Chromosome Discovery in Bloodstains at Crime Scene
Shutterstock/PeopleImages
Forensic investigations into the murder victim have revealed a fascinating case of Chimerism. This means her body harbored genetically distinct cells, resembling those from two different individuals.
The unidentified woman’s cellular composition displayed varying male and female cell ratios across tissues. The most plausible explanation is that she developed from one egg fertilized by two sperm—one carrying an X chromosome and the other a Y chromosome, according to biologists from New Scientist.
“This is an intriguing case, but not entirely unprecedented,” noted David Haig from Harvard University.
Visible signs of chimerism can be rare, though singer Taylor Mule has raised awareness about the condition. Often, genetic testing is the only way to identify it.
This was also true for the murder victim shot and killed in China, where blood analysis at the scene revealed the presence of a Y chromosome, prompting further investigation.
Subsequent tests showed the female (XX) to male (XY) cell ratios varied throughout her body. In one hair sample, the majority were XY cells, while the kidney revealed a balanced mix. The other tissues examined predominantly contained XX cells, albeit in varying amounts.
Typically, XX/XY chimerism is linked to ambiguous sexual characteristics. However, in this instance, the woman’s anatomy offered no indication of her condition, and she had a son—hinting that she may have been unaware of her chimerism.
One known mechanism for XX/XY chimerism formation is through the fusion of non-identical twins. Here, two separately fertilized eggs combine to form a single embryo.
Nevertheless, the X chromosome in the victim’s XY cells matched one of the X chromosomes found in the XX cells, indicating both could have originated from the same egg—thus excluding the fusion theory.
Initially, it was believed that one egg split into two eggs, each of which was fertilized to create two separate embryos that later fused. This theory has been challenged by Chinese forensic experts.
Michael Gabbett at Queensland University of Technology in Brisbane argues that this possibility is negated.
“When this type of chimera was first documented in humans, this was the prevailing theory. However, no one has been able to provide substantial evidence for it occurring in humans or other mammals,” Gabbett stated.
Instead, he proposes that one egg was fertilized by two sperm, leading to a triploid fertilized egg that ultimately divided into three. Two cells retained one set from the egg and one from sperm while the third likely contained two sperm sets, leading to its eventual demise.
This rare occurrence, termed “trigametic chimerism,” involves an egg and two sperm, a theory supported by Haig.
This phenomenon is exceedingly rare, and on occasion, the embryo can split, resulting in semi-identical twins and even chimerism. There are only two recorded cases of semi-identical twins, one of which Gabbett was involved in identifying.
For the murder victim, the chimeric cells were present throughout her body, and the Chinese research team asserts this is the first extensive examination of various organs in such cases of triplet chimerism.
Another form, microchimerism, is more prevalent than trigametic chimerism. It occurs when maternal cells invade the fetus or vice versa during pregnancy and can also happen when siblings exchange cells.
DNA Tapes: Revolutionizing Information Storage Beyond Standard Cassettes
Jiankai Li et al. 2025
In an innovative revival of 1960s technology, researchers have created a cassette tape that utilizes DNA for encoding information, substituting traditional iron oxide with synthetic DNA molecules printed onto plastic tape.
This groundbreaking technology boasts an astounding capacity for storing information. While conventional cassette tapes typically hold about 12 songs per side, DNA tapes can encapsulate every song ever recorded.
With a capacity of 10 megabytes per song, 100 meters of DNA cassette tape can accommodate over 3 billion songs. In total, the storage potential is a staggering 36 petabytes, equal to 36,000 terabytes of hard drive space.
Led by Jiang Xinyu and his team at Southern University of Science and Technology in Guangdong, China, these cassettes are engineered to represent digital data through the sequencing of DNA bases (A, T, C, G) much like binary code in computers. This enables the storage of various digital files, including text, images, audio, and video.
The researchers were thrilled by the public’s reaction following the announcement of the DNA cassette. New Scientist reported Jiang stating, “The diverse feedback we’ve received from scientists, artists, engineers, and educators has been rewarding, inspiring many to rethink the intersection of data, biology, and technology.”
The project team’s next objective is to create a specialized reading/writing mechanism for DNA cassettes that emulates the function of traditional magnetic tape drives. “Our new ‘head’ design will precisely align the DNA tape in a reaction chamber for chemical processes like reading and rewriting,” Jiang explains.
They anticipate that DNA cassette tapes could be available commercially within five years. “Our exploration of DNA cassette tape technology transcends mere storage capability; it encompasses a reimagining of how information exists in both physical and biological forms,” Jiang concludes.
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Groundbreaking Discovery: Plant and Human DNA Interaction
Image Credit: S Saraus/Shutterstock
How crucial is our genome? While some researchers argue that most of our DNA is active and thus essential, others suggest that even random DNA could show high activity levels. Current studies focus on human cells that incorporate substantial segments of plant DNA, shedding light on this topic. According to New Scientist, the largely random plant DNA exhibits nearly equal activity to human DNA.
This research indicates that much genomic activity may lack purpose, further supporting the theory that a significant portion of the human genome is ‘junk DNA.’
“Most activity can be attributed to background noise,” says Brett Aidy, a researcher at the University of Auckland, New Zealand. “This aligns with the concept of junk DNA.”
The primary role of DNA is to encode instructions for protein synthesis, which are essential molecular machines responsible for cellular functions. This genetic blueprint is transcribed into messenger RNA, which transports the instructions to ribosomes, the cellular machinery for protein production.
Previously, it was assumed that nearly all DNA was involved in coding proteins, but now we understand that just 1.2% of the human genome directly encodes proteins. What, then, is the destiny of the remaining DNA?
Since the 1960s, biologists have claimed that much of it is unproductive. While it’s true that some non-coding DNA plays vital roles, ongoing discoveries of functional elements won’t redefine the overarching notion that non-coding DNA is largely inert.
In contrast, other scientists explore whether human DNA has functional roles, even if converted RNA lacks known applications. The ENCODE project’s 2012 findings suggest that over 80% of the human genome is active in some form. This raised questions about its classification as junk DNA. Some researchers have coined the term “dark DNA” for non-coding regions whose purpose remains unclear.
In reaction to ENCODE’s claims, in 2013, Sean Eddy from Harvard University proposed a controversial random genome project, hypothesizing that injecting synthetic random DNA into human cells would yield similar activity as noted in ENCODE’s findings.
“If this holds true, the results will call into question the interpretation of activity as indicative of functionality,” he posits. Austin Ganley, also from Auckland University, echoes this sentiment, emphasizing the need for baseline comparisons in the research of functional versus non-functional DNA.
However, synthesizing DNA is resource-intensive. So far, only limited attempts at random genome projects have focused on small DNA segments.
Yet, when Adey and Ganley discovered that Japanese researchers had successfully created human-plant hybrid cells with DNA segments from Thale cress (Arabidopsis), they recognized it as potentially the most extensive random genome experiment to date.
Eddy, though not directly involved, acknowledges the significance. Plants and animals diverged from a common ancestor over 1.6 billion years ago, allowing time for random mutations to accumulate within non-coding DNA segments of Arabidopsis.
Following initial validations that plant DNA behaves as random DNA in human cells, Adey and Ganley assessed DNA-to-RNA conversion rates per 1000 base pairs of non-coding DNA. If DNA to RNA conversion implies functionality, plant DNA should minimal undergo this transformation. Surprisingly, they observed slightly less activity—about 80% of the starting sites per kilobase when compared to human non-coding DNA from Arabidopsis.
This strongly indicates that the genomic activity detected by ENCODE is merely background noise.
“This illustrates the inherent noise in biological systems,” comments Chris Ponting from the University of Edinburgh, UK. “This sequence’s biochemical activity holds no function within human cells.”
“Sophisticated investigations like this were essential,” asserts Dan Graul from the University of Houston, Texas. “This adds experimental evidence confirming the long-held belief that a majority of the human genome is unnecessary. The term ‘dark DNA’ is simply a fantasy created by those envious of physics.”
Although imperfect biological systems produce noise, this noise can lead to beneficial variations that natural selection may target, notes Ganley.
The research team remains puzzled about a 25% increase in human DNA activity. “We still need to investigate the cause behind this finding,” Ganley states.
While some additional RNA generated might serve functional purposes, this does not diminish the overall perspective of junk DNA. Ongoing research is employing machine learning techniques to identify potentially meaningful activities amidst the noise.
The research team intends to publish their outcomes, though they have yet to complete their findings.
The skeletal remains of the individual known as ‘Beachy Head Woman’ were rediscovered in 2012 within the collection of Eastbourne Town Hall. Since then, her story has garnered significant public interest. Radiocarbon dating reveals that she lived between 129 and 311 AD during the Roman occupation of Britain. Over the last decade, researchers have sought to uncover her geographic origins and ancestry. Initially believed to originate from sub-Saharan Africa or the Mediterranean, groundbreaking DNA research now indicates she shares strong genetic connections with the local population of Roman-occupied Britain and modern-day Britons.
A depiction of Beachy Head Woman’s face. Image credit: Face Lab, Liverpool John Moores University.
The journey of Beachy Head Woman began with her rediscovery in 2012, although uncertainty still surrounds her life. Radiocarbon dating placed her death between 129 and 311 AD, during the Roman occupation of Britain.
Analysis of her remains suggests she was aged between 18 and 25 at the time of death and stood just over 1.5 meters tall. A healed leg wound implies she endured a serious but non-fatal injury during her life.
Dietary analysis of her bones indicates a high seafood diet, revealing insights into her lifestyle.
“Using advanced DNA technology, we have made significant strides in uncovering the origins of this individual,” stated researcher Dr. William Marsh from the Natural History Museum in London.
“Our findings show that her genetic ancestry is most closely aligned with other individuals from the local population of Roman Britain,” he added.
The Beachy Head Woman’s remains were unearthed from a collection at Eastbourne Town Hall. Initial findings indicated that her skeleton was discovered at Beachy Head, a nearby geographic landmark, during the 1950s, though details of the excavation remain elusive.
Interest in Beachy Head Woman intensified when initial morphometric analyses suggested potential sub-Saharan African origins. This captivating narrative was exhibited at Eastbourne Museum, capturing widespread media attention.
In 2017, unpublished DNA findings implied a Mediterranean origin, possibly from Cyprus, rather than Africa. However, these conclusions are drawn from limited data, leaving many questions about Beachy Head Woman’s life unanswered.
“As our scientific knowledge continues to expand, it is our mission as researchers to seek further answers,” commented Dr. Selina Brace, also from the Natural History Museum in London.
“Thanks to technological advancements over the past decade since Beachy Head Woman’s reemergence, we are thrilled to share new comprehensive data and insights into her life,” she concluded.
For more details, you can refer to the team’s paper published this month in the Archaeology Journal.
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Andy Walton et al. Beachy Head Woman: Uncovering her origins using multi-proxy anthropological and biomolecular approaches. Archaeology Journal, published online on December 17, 2025. doi: 10.1016/j.jas.2025.106445
According to a researcher, thousands of synthetic chemicals could be disrupting the genetic makeup of birds before they hatch, as highlighted in recent research on ducklings.
Scientists from the Norwegian University of Science and Technology (NTNU) injected small doses of per- and polyfluoroalkyl substances (PFAS) into mallard duck eggs to investigate their effects.
The findings revealed that these chemicals could alter the ducklings’ DNA, switching genes on and off in various organs, ultimately reducing their chances of survival.
PFAS, often referred to as “forever chemicals,” are a category of synthetic substances that are notably resistant to environmental degradation.
In this experiment, researchers injected three different persistent chemicals into the duck eggs to evaluate their impacts. The eggs were then sealed in wax and incubated until they hatched.
Although the study was conducted in a controlled lab setting, the aim was to replicate the type of exposure these eggs might naturally receive from their mothers.
Immediately after hatching, scientists collected samples from the ducklings’ livers, hearts, and a unique organ known as the bursa of Fabricius, which plays a crucial role in the immune system.
Mother ducks exposed to PFAS in their environment can transfer the contamination to their offspring through their eggs – Credit: Getty Images
Results indicated that in the liver, two of the three persistent chemicals triggered genetic modifications in the ducklings, affecting genes related to fat metabolism.
The study’s lead author, En Fleur Brand, emphasized, “Mallards need to regulate fat storage and consumption precisely during both breeding and migration seasons.”
“Alterations in fat metabolism may hinder survival or reproductive success.”
Meanwhile, scientists were surprised to find no significant changes in the hearts of the ducklings, although bursa of Fabricius showed effects in all PFAS-exposed individuals.
Brand remarked, “We observed increased activity in genes typically involved in viral infection detection. However, the implications for the birds remain unclear.”
The researchers concluded that PFAS could be detrimental to young wildlife, such as ducklings, and advocated for stricter regulations on these chemicals.
While some PFAS have been permanently banned, thousands remain in use, and their impacts on animals, humans, and the environment are still not completely understood.
In their study, scientists assessed one widely regulated or banned permanent chemical, applicable in the European Union, the United Kingdom, and the United States, along with two others still in circulation.
Brand stated, “These substances are prevalent in a multitude of products, ranging from frying pans and waterproof clothing to fire extinguishers, food packaging, and antifouling coatings.”
Adolf Hitler’s genome sequenced for TV documentary
Roger Violet (via Getty Images)
Some argue that discussing Adolf Hitler can lead to losing an argument. Resorting to having his DNA sequenced to attract media attention indicates a clear defeat in the debate.
Yet, Channel 4 in the UK is doing just that with Hitler’s DNA: The Dictator’s Blueprint, airing this Saturday. I plan to watch it, so feel free to skip it.
DNA is a piece of cloth soaked in blood. It’s a remnant from the sofa where Hitler took his life in 1945, now displayed in a US museum. Despite some gaps due to age, the Y chromosome reportedly aligns with a male relative of Hitler, suggesting authenticity.
Had this been an academic pursuit aiming for knowledge, such as investigating rumors of a Jewish grandfather (which DNA disproves), it might have been acceptable. However, the documentary sensationalizes the findings, claiming this DNA will “change how we perceive Hitler.”
This implication leans towards genetic determinism, suggesting Hitler was fated to commit atrocities due to his genetics. While the documentary stops short of making this assertion, the term “dictator’s blueprint” carries that connotation.
This logic suggests that cloning Hitler would likely yield more tyrants. While impractical, identical twins—sharing the same DNA—exist as natural experiments. Twin studies estimate how much traits and conditions stem from genes rather than environment.
However, twin research has its issues. It’s challenging to disentangle genetic and environmental factors, especially as twins share upbringing. Nevertheless, estimates suggest less than 50% heritability for criminal behavior, aligning with genocidal dictators. Thus, we shouldn’t assume that a majority of hypothetical Hitler clones would become tyrants.
Moreover, our grasp of the human genome is still developing. We can’t accurately predict simple things like eye color, let alone the complex traits influenced by the brain and the environment.
Current methods can identify genetic variants linked to higher disease risks, like autism. Individuals are assigned a “polygenic score,” but these scores don’t definitively predict conditions. Various factors matter, potential associations might be coincidental, and important variants may be unidentified.
“It’s essential to stress that autism polygenic scores lack clinical utility due to inconsistent correlations and limited applicability,” stated a meta-analysis this year.
The documentary claims that Hitler’s genome shows a high propensity for autism and mental health issues like schizophrenia and bipolar disorder. While historical accounts suggest Hitler displayed troubling behaviors, genetic data cannot confirm psychological diagnoses.
Hitler’s DNA was obtained from a blood-stained piece of cloth on the couch on which Hitler committed suicide, collected by U.S. Army Colonel Roswell P. Rosengren, and is now on display at the Gettysburg Historical Museum in Pennsylvania.
Gettysburg Historical Museum
But more crucially, what if he exhibited these traits? Are there underlying explanations for these classifications? As Simon Baron-Cohen from Cambridge University states in the documentary, the adverse effects of Hitler’s abusive father play a significant role in explaining his hatred and aggression.
He learned that characteristics tied to schizophrenia may correlate with creativity and unconventional thinking, possibly elucidating Hitler’s political and military achievements. Really? This is mere conjecture.
This is the core issue with analyzing Hitler’s genome. While we draw plausible connections with his actions, these links could easily be erroneous. Moreover, such narratives further stigmatize conditions like autism and schizophrenia.
The documentary contradicts its claims, mainly reiterating existing knowledge about Hitler. The only assertion of novelty is that Hitler may have suffered from Kallmann syndrome, impacting sexual maturation. Yet, evidence already exists that Hitler faced anatomical issues as noted in past research—history often provides more clarity than genetics.
Additionally, the documentary tackles a broader question: Was Hitler singularly wicked and solely responsible for World War II and the Holocaust? There’s no shortage of genocidal dictators, many of whom rely on a supportive network.
Millions elected Hitler, and various officials upheld the legal measures enabling his rise, with numerous individuals enforcing the discriminatory laws resulting in the Holocaust. We don’t need genetic narratives to explain the emergence of dictators; the more pressing inquiry is why we permit them to rise to power.
Francis Crick (right) and James Watson modeling DNA in 1953
A. Barrington Brown, Gonville, Caius College/Scientific Photography Library
Click: The Moving Mind – From DNA to the Brain Matthew Cobb profile book, England. Basic Books
Francis Crick missed a crucial seminar in 1951, likely because he was occupied with his partner. James Watson attended but failed to take proper notes, leading to inaccuracies in their initial DNA model.
This anecdote is just one of many compelling elements in Click: The Moving Mind – From DNA to the Brain, a biography by zoologist and author Matthew Cobb. If you’re curious about the discovery of DNA’s structure and subsequent developments, this is the must-read book.
Crick, raised as a shopkeeper’s son, struggled academically at first and didn’t gain admission to Oxbridge. He eventually earned a second-class degree and a rather dull PhD on the viscosity of water. After serving in WWII, he entered civil service, but his marriage faltered and his son lived with relatives. However, his readings nurtured a passion for the molecular foundations of life and consciousness. He re-entered research, working in an independent lab in Cambridge.
In 1949, he began exploring biomolecule structures through X-ray diffraction. His notes detail various mishaps: spills, misplaced films, and sample errors. Crick once flooded his boss’s hallway twice and incessantly conversed with Watson, irritating their co-workers. The two were ultimately separated to different rooms.
By 1952, Crick had a new family but faced bankruptcy and potential job loss under his boss, Lawrence Bragg. Competing biochemist Linus Pauling falsely claimed to have deduced DNA’s structure—this drove Bragg to allow Crick and Watson to pursue the DNA research unhindered. By March 1953, they had successfully unraveled it.
“
Part of Crick’s success lay in his willingness to fail, proposing multiple ideas that eventually proved incorrect. “
While chemist Rosalind Franklin’s data was indeed significant, Cobb asserts that Crick and Watson did not misappropriate it. He also highlights that Franklin, Watson, and Wilkins collaborated more than previously recognized.
It’s often overlooked that Crick and Watson acknowledged Franklin and Wilkins in their renowned publication, Nature. A paper by Franklin and Wilkins coincided with their work, and she developed a friendship with Crick and his second wife, Odile, often staying with them during her recovery from cancer surgery, which ultimately claimed her life. This untimely death is why she wasn’t a recipient of the 1962 Nobel Prize.
Crick later played an instrumental role in decoding how DNA encodes proteins, contributing many vital insights to the process. While the biography remains engaging at this point, it loses some momentum as it shifts focus to Crick’s life, rather than Cobb’s narrative. Following the genetic code’s unveiling in the 1960s, Crick published several poorly received papers and likely faced depression in 1971.
In 1977, he relocated to California and shifted his focus to consciousness research. Cobb posits that his contributions in this field were as groundbreaking as his molecular biology achievements, including efforts to define the brain’s connectome.
This biography paints Crick as a multifaceted individual. He was anti-religious and anti-monarchy, celebrated his remarriage openly, championed cannabis legalization, experimented with acid, and occasionally hosted wild gatherings where adult films were shown. There are also allegations of unwanted advances towards several women.
Moreover, Crick corresponded with individuals expressing racist views regarding IQ and genetics but ultimately recognized that the matters were more nuanced than he once believed. Since the 1970s, he notably refrained from discussing this topic, especially in stark contrast to Watson, who passed away last week at 97.
It’s evident that Crick’s triumph stemmed not only from his brilliance but also from his readiness to fail and his willingness to propose and publish many ideas that did not pan out. For instance, one Saturday, after reviewing a paper outlining X-ray results for proteins, he, with a colleague’s assistance, was able to determine its structure by noon.
As I read, I reflected that perhaps Crick’s qualifications might not align with the current scientific standards. Today’s researchers might be astonished to learn that he had no formal education and only submitted one grant proposal. The legacy of geniuses like Crick may be struggling to thrive in a system that hasn’t nurtured their kind.
Research led by scientist Hannah Long at the University of Edinburgh has found that specific regions of Neanderthal DNA are more effective at activating genes responsible for jaw development than those in humans, potentially explaining why Neanderthals had larger lower jaws.
Neanderthal. Image credit: Natural History Museum Trustees.
“With the Neanderthal genome being 99.7% identical to that of modern humans, the variations between species are likely to account for differences in appearance,” Dr. Hanna stated.
“Both human and Neanderthal genomes consist of roughly 3 billion characters that code for proteins and regulate gene expression in cells. Identifying the regions that influence appearance is akin to searching for a needle in a haystack.”
Dr. Long and her team had a targeted approach, focusing on a genomic area linked to the Pierre Robin sequence, a condition marked by an unusually small mandible.
“Individuals with the Pierre Robin sequence often have significant deletions or rearrangements in this portion of the genome that affect facial development and restrict jaw formation,” Dr. Hanna explained.
“We hypothesized that minor differences in DNA could produce more nuanced effects on facial structure.”
Upon comparing human and Neanderthal genomes, researchers discovered that in this segment, approximately 3,000 letters long, there are only three one-letter variations between the species.
This DNA region doesn’t code for genes but regulates when and how certain genes, particularly SOX9, which plays a crucial role in facial development, are activated.
To confirm that these Neanderthal-specific differences were significant for facial development, scientists needed to demonstrate that the Neanderthal version could activate genes in the appropriate cells at the right developmental stage.
They introduced both Neanderthal and human versions of this region into zebrafish DNA and programmed the cells to emit different colors of fluorescent protein based on the activation of either region.
By monitoring zebrafish embryo development, researchers observed that cells responsible for forming the lower jaw were active in both human and Neanderthal regions, with the Neanderthal regions showing greater activity.
“It was thrilling when we first noticed the activity of specific cell populations in the developing zebrafish face, particularly near the forming jaw, and even more exhilarating to see how Neanderthal-specific variations could influence activity during development,” said Dr. Long.
“This led us to contemplate the implications of these differences and explore them through experimental means.”
Recognizing that Neanderthal sequences were more effective at activating genes, the authors questioned whether this would lead to enhanced target activity affecting the shape and function of the adult jaw, mediated by SOX9.
To validate this idea, they augmented zebrafish embryos with additional samples of SOX9 and discovered that cells involved in jaw formation occupied a larger area.
“Our lab aims to further investigate the effects of genetic differences using methods that simulate various aspects of facial development,” Dr. Long remarked.
“We aspire to deepen our understanding of genetic variations in individuals with facial disorders and improve diagnostic processes.”
“This study demonstrates how examining extinct species can enhance our knowledge of how our own DNA contributes to facial diversity, development, and evolution.”
The findings are published in the journal Development.
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Kirsty Utley et al. 2025: Neanderthal-derived variants enhance SOX9 enhancer activity in craniofacial progenitor cells, influencing jaw development. Development 152 (21): dev204779; doi: 10.1242/dev.204779
Scientist Hannah Long and her team at the University of Edinburgh have discovered that specific regions of Neanderthal DNA are more effective at activating genes related to jaw formation compared to human DNA, which might explain why Neanderthals had larger lower jaws.
Neanderthal. Image credit: Natural History Museum Trustees.
“The Neanderthal genome shows a 99.7% similarity to the human genome, suggesting that the differences between the species contribute to variations in appearance,” explained Dr. Hanna.
“Both the human and Neanderthal genomes comprise around 3 billion characters that code for proteins and regulate gene usage in cells. Therefore, pinpointing regions that affect appearance is akin to finding a needle in a haystack.”
Dr. Long and her collaborators had a targeted hypothesis regarding where to initiate their search. They focused on a genomic area linked to the Pierre Robin sequence, a condition characterized by a notably small jaw.
“Some individuals with Pierre Robin sequence exhibit significant deletions or rearrangements in this genomic region that disrupt facial development and impede jaw formation,” stated Dr. Hanna.
“We speculated that minor variations in DNA could subtly influence facial shape.”
Through the comparison of human and Neanderthal genomes, researchers identified that in a segment approximately 3,000 letters long, there are just three one-letter differences between the two species.
This DNA segment lacks any specific genes but regulates the timing and manner in which genes, particularly SOX9, a crucial factor in facial development processes, are activated.
To demonstrate the significance of these Neanderthal-specific differences for facial development, researchers needed to confirm that the Neanderthal region could activate genes in the correct cells at the appropriate developmental stage.
They introduced both Neanderthal and human variants of this region into zebrafish DNA concurrently and programmed the cells to emit different colors of fluorescent protein based on whether the human or Neanderthal region was active.
By monitoring zebrafish embryo development, researchers observed that the cells crucial for lower jaw formation were active in both regions, with the Neanderthal regions showing greater activity than those of humans.
“We were thrilled when we first detected the activity in a specific group of cells within the developing zebrafish face, near the jaw, and even more so when we realized that Neanderthal-specific differences could modify this activity during development,” Dr. Long noted.
“This led us to ponder the potential implications of these differences and how we may explore them experimentally.”
Recognizing that Neanderthal sequences were more adept at activating genes, the authors inquired whether this would correlate with heightened activity in target cells, influencing the shape and function of the adult jaw as governed by SOX9.
To test this hypothesis, they administered additional samples to zebrafish embryos. They found that the cells involved in jaw formation occupied a larger area.
“In our lab, we aim to investigate the effects of additional DNA sequence differences using methods that replicate aspects of facial development,” Dr. Long said.
“We aspire to enhance our understanding of sequence alterations in individuals with facial disorders and assist with diagnostic efforts.”
“This research illustrates that by examining extinct species, we can gain insights into how our own DNA contributes to facial variation, development, and evolution.”
Findings are detailed in the journal Developmenthere.
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Kirsty Utley et al. 2025: Variants derived from Neanderthals enhance SOX9 enhancer activity in craniofacial progenitor cells that shape jaw development. Development 152 (21): dev204779; doi: 10.1242/dev.204779
While historical accounts claim that Ingólfr Arnarson was the first Norse settler to reach Iceland in the 870s, this assertion might not hold true.
Public domain
Norsemen may have arrived in Iceland as much as 70 years earlier than previously believed, and their arrival might not have been the environmental catastrophe often depicted.
Traditionally, it’s stated that Iceland saw its first settlement in the 870s. This early migration is frequently viewed as an ecological calamity brought on by Viking raiders and Norse settlers who cleared the forests for fuel, construction materials, and arable land. Today, less than 2 percent of the country is still forested.
Finding concrete evidence regarding the arrival of these early settlers has been challenging. Archaeologists have discovered an ancient wooden longhouse, estimated to be from around 874 AD, located near Stódvarfjordur in eastern Iceland. This old longhouse is thought to have been a summer dwelling established in the 800s, though this finding has yet to be documented in scientific journals.
Currently, Eske Willerslev, a professor at the University of Copenhagen, and his team examined environmental DNA (eDNA) gathered from sediment cores drilled in Lake Tjörnin, an area in central Reykjavík, one of Iceland’s earliest and continuously inhabited locations, to identify which species existed and their timestamps. They analyzed volcanic ash layers, alongside radiocarbon dating and plutonium isotope assessments, to develop a timeline from about 200 AD up to contemporary times, integrating known historical events.
A significant marker in their research is the Randonham tephra layer, formed from volcanic ash deposited during eruptions around 877 AD. The bulk of evidence indicating human habitation in Iceland is found above this layer, indicating subsequent settlement.
“The signs beneath the tephra provide compelling evidence for earlier human activity,” Comments Chris Callow from the University of Birmingham, UK, who did not participate in the research.
Willerslev and his colleagues postulate that humans may have arrived as early as 810 AD. This inference is based on an observed rise in levoglucosan, a compound linked to biomass burning, and a subsequent increase in sewage-related viruses.
“If it were 850, I wouldn’t have been so surprised, but 810 represents rapid Viking expansion in the North Atlantic,” Callow remarks. “Overall, this aligns with our suspicions, but a date as early as 810 remains contentious.”
While piecing together a thorough environmental history of the region is noteworthy, the evidence supporting such an early arrival remains questionable. Kathryn Catlin from Jacksonville State University in Alabama stated, “The sewage biomarkers only show a slight increase around 800, nothing until 1900. Where are the indicators of sewage and human activity in between?” She also pointed out that while biomass burning could imply human presence, natural occurrences like lightning could also ignite fires.
Willerslev and his colleagues opted not to conduct interviews. New Scientist also noted that the settlers’ arrival corresponded with an uptick in local biodiversity. Genetic data imply they brought grazing animals, cultivated hay, and grew barley on a small scale for brewing purposes.
In contrast to the widespread narrative of swift deforestation, eDNA from pollen samples revealed that birch and willow trees expanded during the settlement era. Notably, birch pollen grains rose fivefold between 900 and 1200 AD, a shift researchers believe may have been influenced by settlers managing the area to protect timber and fuel sources.
“This significantly contradicts earlier claims that Vikings arrived in Iceland and immediately caused environmental destruction,” Katrin stated.
Although sheep, cattle, pigs, and horses do not appear in considerable numbers until decades after the initial settlement, Willerslev and his colleagues propose this lag may stem from the 20-year period required to build up detectable herds in eDNA records.
Callow posits another explanation: the first inhabitants may have only visited during the summer months for walrus ivory, possibly arriving without many animals. “They could have intended to hunt a few walruses and return home,” he suggested.
eDNA indicators imply the significant loss of biodiversity, including birch and willow trees, didn’t transpire until after 1200. Willerslev and his team associate this decline with the cooler climate associated with the Little Ice Age, rather than direct effects from settlers. This marked a period of colder temperatures from approximately 1250 to around 1860, compounded by volcanic eruptions and storm surges.
As Napoleon advanced into Russia in 1812, he commanded the largest army ever assembled in Europe. However, his return was marked not by gunfire, but by the chilling impact of microscopic foes.
Scientists examining DNA from the teeth of soldiers who perished during the retreat from Moscow have uncovered two diseases that devastated the Tsar’s grand army.
Historically, “typhus has been regarded as the most widespread illness in the military,” stated Nicolas Raskovan, director of the microbial paleogenomics department at the Pasteur Institute and lead author of the research. The findings were published in “Current Biology”.
Employing a method known as shotgun sequencing, Raskovan and his team investigated ancient DNA from the dental remains of 13 soldiers discovered near Vilnius, Lithuania, and identified two “previously undocumented pathogens.”
“We have confirmed the presence of Salmonella enterica, which is part of the Paratyphoid C strain,” he explained to NBC News, noting this bacteria is responsible for paratyphoid fever, along with Borrelia ricerentis, the agent of relapsing fever.
These diseases would likely have thrived in environments where “sanitation and hygiene were severely lacking,” he added.
The results align with historical accounts detailing symptoms like fever and diarrhea that plagued Napoleon’s troops, according to the study.
A “reasonable scenario” for the fatalities might include “extreme fatigue, cold weather, and multiple illnesses, such as paratyphoid fever or louse-borne relapsing fever,” the researchers noted.
“Although not necessarily deadly, louse-borne relapsing fever can be profoundly debilitating for someone already worn down,” they added.
In contrast to a 2006 study that discovered traces of bacteria causing typhus and trench fever in four out of 35 individuals, this research found no evidence of those illnesses.
However, Raskovan noted that while early research was constrained by the technology at the time, both old and new findings paint a clearer picture of the factors that led to the downfall of Napoleon’s forces.
“The discovery of four different pathogens in such a significant number of individuals strongly indicates that a variety of infections were widespread,” he remarked.
Approximately 300,000 lives were lost before Napoleon’s army retreated. It appears even an emperor cannot conquer the realm of microorganisms.
Researchers have uncovered new DNA evidence that challenges established theories regarding Napoleon’s ill-fated 1812 invasion of Russia. As his Grand Army, comprising around 500,000 soldiers, advanced toward Moscow, it encountered severe resistance, dwindling resources, and the harshness of winter.
As the troops began their retreat, starvation and disease were rampant. Analyzing the remains of soldiers now indicates that multiple infectious diseases may have caused the significant loss of life in the French emperor’s army, rather than typhus being the singular primary cause of devastation.
A recent study led by Dr. Nicholas Raskovan at the Pasteur Institute in Paris involved extracting genetic material from the teeth of 13 soldiers interred in a mass grave in Vilnius, Lithuania.
Through ancient DNA sequencing, no evidence of typhus was identified. Instead of the long-suspected bacteria rickettsia, the team pinpointed two distinct pathogens: salmonella enterica, which causes enteric fever (like typhoid), and Borrelia recurrentis, linked to recurring fever.
Raskovan mentioned, “Our research alters the understanding of pathogens previously unrecognized,” as reported in BBC Science Focus.
Previous research employed PCR tests, akin to those used in contemporary COVID-19 testing, to search solely for specific microorganisms. Currently available technology enables scientists to “cast a wider net,” allowing them to detect DNA fragments from all microorganisms present, Raskovan explained.
“Thanks to advancements in technology, we now have insights that were unimaginable a decade ago,” Raskovan noted.
“When we integrate our prior and current research, we discover that four different diseases affected just a small group of individuals. This implies that a single pathogen didn’t account for all the 3,000 deaths, but rather, these individuals were infected with various pathogens.”
In essence, the situation for Napoleon’s army during their retreat from Russia was dire, facilitating the spread of various diseases. It was almost inevitable that if one illness was avoided, another would take hold.
The research also highlighted the strain Borrelia recurrentis found at the site, which is genetically identical to those from Iron Age Britain, approximately 2,000 years ago, a lineage that has since vanished.
Raskovan stated, “This strain derives from an ancestor that either no longer exists or is currently unknown. This emphasizes the significant changes in sanitation over the past two centuries, particularly with the advent of antibiotics that have virtually eradicated this once prevalent disease.”
For Raskovan, these ancient microorganisms are more than peculiar findings; they are historical witnesses. “For those infected, it’s not surprising,” he remarked. “For me, it’s fulfilling to reconstruct history.”
“These pathogens provide us with a means to learn about past populations and their dynamics.”
Laboratories enable modification of human egg cell genetic identity
Science Photo Library / Aramie
Human embryos arise from eggs that utilize the DNA from adult skin cells. This was accomplished with mice. This advancement may offer a pathway for same-sex couples or women facing fertility challenges to have biologically related children.
Researchers have successfully replicated animals through cloning techniques. This involves substituting the nucleus of an egg cell with the nuclei from somatic cells such as skin cells. However, in addition to the legal hurdles surrounding human cloning, many couples desire children that carry genes from both partners, necessitating both sperm and eggs. Shoukhrat Mitalipov of Oregon Health and Science University.
This scenario is complicated by the nature of eggs and sperm being haploid, meaning they contain only one set of chromosomes. The challenge lies in halving the complete set of chromosomes found within cells such as skin cells after selecting an optimal combination of the original genes.
Females develop all of their eggs while still in the womb, where the progenitor cells initially containing 46 chromosomes undergo a complicated process of replication, mixing, and division to reduce to 23 chromosomes.
Mitalipov was intrigued by the possibility of employing natural chemical processes that facilitate chromosomal division in mature human eggs both before and after fertilization to replicate this process in his laboratory.
Having achieved this with mice, Mitalipov and his team are now trialing the method with human subjects. They started by extracting the nuclei from hundreds of eggs donated by healthy women, which were left at a specific development stage linked to chromosomal division. Next, the nuclei of skin cells, known as fibroblasts, from healthy female volunteers were inserted into these eggs. Microscopic images displayed the chromosomes aligned on the spindle and the internal structures necessary for chromosomal separation.
The team then injected sperm from a healthy donor to fertilize some of the eggs, utilizing a method akin to that employed in creating babies using third-party mitochondrial DNA, which can also minimize the risk of specific genetic disorders.
This injection typically causes the eggs to undergo chromosome selection and eliminate duplicate DNA, preparing them for additional reception from the sperm. Nonetheless, in the case of the skin-derived eggs, this process was interrupted, with chromosomes aligning but not separating. Consequently, the researchers attempted again with a new batch of fertilized eggs, applying an electrical pulse that allowed calcium to surge into the egg, emulating natural signals triggered when sperm contact the egg’s outer layer, alongside an incubation period with a drug to activate them from their dormant state pre-fertilization.
Through a series of trials, the researchers successfully halved the chromosome counts in the eggs, discarding any excess. By the conclusion of the experiment, 9% of the fertilized eggs had developed into blastocysts — a dense cluster of cells at about 5-6 days post-fertilization, typically moving into the uterus during IVF treatments. However, the team did not pursue the transfer or sustain the blastocyst beyond six days.
Despite the progress made, the mixtures of genes forming the remaining chromosomes appeared particularly susceptible to defects. “I believe this method is still in its early stages and is not presently suitable for clinical applications,” stated MITINORI SAITOU from Kyoto University in Japan.
Lin from Osaka University noted that while the techniques are “very sophisticated and organized,” they remain “inefficient and potentially hazardous for immediate clinical use.” Nevertheless, Hayashi remarked that the team has achieved a “substantial breakthrough in reducing the human genome.” “This advancement will herald new technologies,” he stated.
Mitalipov acknowledged the validity of the criticisms, emphasizing that his team is actively working to address the existing flaws. “At the end of the day, we’re making progress, but we aren’t there yet,” he remarked.
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One factor in our aging process is the buildup of mutations in our cellular DNA.
Mohammed Elamine Aliwi / Alamy
Clusters of proteins seem to significantly influence the rate of DNA repair within our bodies, which in turn determines how quickly mutations accrue in cells throughout one’s life. This dynamic can significantly influence both aging and lifespan.
“It is a very reliable indicator of lifespan across humans and other animals,” states Trey Ideker from the University of California, San Diego. His research team aims to discover treatments that might enhance lifespan by increasing DNA repair mechanisms.
Some researchers assert that the evidence linking this specific protein complex—a collection of two or more proteins that collaborate for a biological function—to mutation rates is compelling. However, more investigation is necessary to concretely establish the relationship between aging and longevity.
Regarding why we age, one proposed theory is that it results from the gradual accumulation of mutations in cellular DNA. As these mutations pile up, the functionality of cellular machinery declines, leading to a cascade of issues.
Cells act like repair teams that address broken DNA, yet their efforts aren’t always adequate. In fact, the efficacy of DNA repair varies, likely influenced by genetic factors.
Ideker’s team has currently compiled evidence indicating that a protein complex known as Dream acts as a master regulator of DNA repair. This complex operates like a supervisor for the repair team. Each complex, potentially existing in numerous identical copies in every cell, is formed by various proteins, and the acronym DREAM reflects the names of its components.
Initially, DREAM was thought to control cell division, but it is now known to repress hundreds of genes tasked with DNA repair, including BRCA2, a gene that heightens breast cancer risk when mutated.
The research group created a metric for DREAM activity by scrutinizing the over 300 genes they initially manage. “This study aims to demonstrate unmistakably that high DREAM activity correlates with increased aging and reduced longevity, while low DREAM activity is favorable for longevity,” he explains.
Using data from studies involving over 100,000 mouse cells across various tissues, the researchers established that cells exhibiting greater DREAM activity harbor more mutations. Subsequently, they examined data from 92 mammalian species and confirmed a strong correlation between reduced DREAM activity and extended maximum lifespans.
In another facet of their experiment, they scrutinized data from a study involving 90 cells, including 80 individuals with Alzheimer’s disease, discovering a connection between DREAM activity and increased risk.
The team also engineered mice to lack the DREAM complex; this was a challenging task since each constituent protein has a unique role, and the entire complex is crucial for cell division early in development. Mice without it would not survive.
To navigate this challenge, they employed a drug-induced genetic strategy to deactivate the DREAM genes when the mice reached 8 weeks of age. The knockout mice exhibited 20% fewer deletion and insertion mutations in brain cells compared to their normal counterparts as they aged, though Ideker notes that the disruption to their lifespan didn’t reflect a significant extension. “The experimental design may not have been suited to uncover that,” he admits. “We now aim to conduct a more conclusive experiment linking it to extended lifespan.”
Despite this, Ideker believes the amassed evidence paints a clear picture. “Our findings indicate that DREAM plays a crucial role in aging and is indeed a significant factor in the accumulation of lifelong mutations,” he asserts.
“These are groundbreaking and significant findings,” remarks JoeãO Pedro de Magalhães from the University of Birmingham, UK. “The data from their mouse studies indicate a causal connection between DREAM and mutation levels,” he notes; however, the researchers haven’t yet established a direct causal link with aging. “To prove this, we must demonstrate that mice exhibiting low mutation rates also enjoy increased lifespans.”
This illustrates why the theory that mutation accumulation is a key factor in aging remains unproven. Advocates like Ideker reference conditions such as Progeria, wherein individuals age prematurely due to compromised DNA repair mechanisms. Others, including de Magalhães, cite a lack of evidence that simply accumulating mutations is a driver of typical aging, although it does correlate with heightened cancer risk.
Even should DREAM complexes prove instrumental in aging, their multifaceted functions complicate the development of treatments. “Achieving a total loss of DREAM functionality, as we have done, may be too drastic,” advises team member ZANE KOCH from UCSD. “Mildly suppressing DREAM could be the optimal approach for extending lifespans.”
In March 2021, a 25-year-old American citizen arrived at Chicago’s Midway Airport and was detained by US Border Patrol agents. According to a recent report, the individual underwent a cheek swab for DNA collection. This person was later identified by state authorities, and their DNA was entered into the FBI’s genetic database, all without any criminal charges being filed.
This 25-year-old is among roughly 2,000 US citizens whose DNA was gathered and forwarded to the FBI by the Department of Homeland Security between 2020 and 2024, as reported by Georgetown’s Privacy and Technology Center. The report highlights that even some 14-year-old US citizens had their DNA collected by Customs and Border Protection (CBP) officials.
“We have witnessed a significant breach of privacy,” stated Stevie Gloverson, director of research and advocacy at Georgetown’s Privacy Center. “We contend that the absence of oversight on DHS’s collection powers renders this program unconstitutional and a violation of the Fourth Amendment.”
When immigration officials collect DNA to share it with the FBI, it is stored in the Combined DNA Index System (Codis), which is utilized nationwide by various law enforcement agencies to identify crime suspects. A 2024 report also revealed that CBP collects DNA data from the Privacy and Technology Center in Georgetown. Additionally, the data indicates that DNA was collected and shared from immigrant children, with initial estimates suggesting that approximately 133,000 teens and children have had their sensitive genetic information uploaded to this federal criminal database for permanent retention.
The recent CBP document specifically outlines the number of US citizens from whom genetic samples were collected at various entry points, including significant airports. The agency gathered data on the ages of individuals whose DNA was obtained by border agents as well as any charges associated with them. Like the 25-year-old, around 40 US citizens had their DNA collected and forwarded to the FBI, including six minors.
Under current regulations, CBP is authorized to gather DNA from all individuals, regardless of citizenship status or criminal background.
However, the law does not permit Border Patrol agents to collect DNA samples from US citizens merely for being detained. Yet, recent disclosures indicate that CBP lacks a system to verify whether there is a legal basis for collecting personal DNA.
In some atypical instances, US citizens had DNA collected for minor infractions like “failure to declare” items. In at least two documented cases, citizens were subjected to DNA swabbing, with CBP agents merely noting the accusation as “immigration officer testing.”
“This is data from CBP’s own management,” Gloverson pointed out. “What the documentation reveals is alarming. Afterward, CBP agents are isolating US citizens and swabbing their mouths without justification.”
No formal federal charges have been filed in approximately 865 of the roughly 2,000 cases of US citizens whose DNA was collected by CBP, indicating, according to Gloverson, that no legal cases have been presented before an independent authority, such as a judge.
“Many of these individuals do not go before a judge to assess the legality of their detention and arrest,” she remarked.
DNA records can disclose highly sensitive information, such as genetic relationships and lineage, regardless of an individual’s citizenship status. Information found in the criminal database, utilized for criminal investigations, could subject individuals to scrutiny that may not otherwise occur, Gloverson warned.
“If you believe your citizenship guards you against authoritarian measures, this situation is clear evidence that it does not,” she concluded.
Research utilizing ancient DNA has shed light on the complex evolutionary ties and ecological responses of elephants and their relatives. In a recent study, scientists sequenced the mitochondrial genomes of various mastodons, including five specimens from Nova Scotia and the East Coast—one dating back approximately 500,000 years—as well as a unique specimen of Pacific Mastodon from Chulatin, Oregon, and a partial mitochondrial genome from North Ontario. Their findings indicate that Pacific mastodons belong to distinct and deep mitochondrial lineages, indicating this species’ range extended into western Canada and potentially even Mexico. Additionally, the authors discovered evidence of at least three separate expansions into the northeastern coastal region and identified two new groups of mastodons with clear, geographically coinciding specimens.
Adult Mastodon (Mammuthus sp.) consumes spruce branches, set against a backdrop that suggests periodic continental migrations related to climate change. During the Middle and Late Pleistocene, at least two types of mastodons roamed North America: the American mastodon, spanning from the East Coast to central regions, and the Pacific mastodon, found from central Alberta to central California. Image credit: Kathryn Kilukki.
Recent classifications have been updated to potentially recognize at least two distinct species: American mastodon and Pacific mastodon (Mammut pacificus), with ongoing debates regarding their division.
Genetic analyses confirmed that Pacific mastodons are ancient and belong to separate genetic lineages that extend further than previously thought.
Notably, Alberta emerged as a “hotspot” where Pacific and American mastodons may have gathered, expanding northward and hybridizing.
Samples collected from the East Coast and northern Ontario revealed two genetically distinct groups, referred to as mastodon clades, cohabiting the same geographic area.
Surprisingly, the eastern species exhibit significant diversity, reflecting at least three distinct waves of migration. This pattern is driven by repeated climatic warming events that opened new areas for glacial retreat and northward movement.
As temperatures decreased and glaciers expanded, mastodons were either forced southward or faced local extinction.
“The data reframes our understanding of the modern regions known as Alberta and the North, highlighting their role as migratory corridors for surrounding fauna,” the researchers noted.
Moreover, a unique and genetically distinct lineage of Mexican mastodon was identified, possibly representing a deeper evolutionary branch of the Pacific mastodon or even a brand-new third species.
During the Ice Age, the mastodon was among the largest terrestrial animals on the planet, traversing a range from Beringia (now Alaska and Yukon) through Nova Scotia and south to Central Mexico.
These creatures primarily foraged in wetlands, consuming shrubs and branches, and inhabited environments quite different from those of their well-known distant relatives, the woolly mammoths.
“This study marks significant milestones, including advancements in our understanding of the Pacific Mastodon,” stated Emil Kalpinski, a researcher at Harvard Medical School.
“It also raises numerous intriguing questions: How did these distant mastodon species interact within Alberta?”
“Did they compete for resources or, as our lab’s earlier research indicated for mammoths, engage in breeding?”
“These revelations, in conjunction with findings from our 2020 study, enrich our understanding of how mastodons migrated and diversified across North America, aiding contemporary conservation efforts in preparing for ongoing climate change and migratory species in the North,” the researchers concluded.
Their paper was published on September 12, 2025, in the journal Advances in Science.
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Emil Kalpinski et al. 2025. Repeated climate-driven dispersion and speciation in peripheral populations of Pleistocene mastodon. Advances in Science 11 (37); doi:10.1126/sciadv.adw2240
The latter part of the first millennium in Central and Eastern Europe witnessed profound cultural and political changes. This transformative era is typically linked to the emergence of the Slavs, supported by textual documentation and corresponding archaeological findings. However, there remains no agreement on whether this archaeological horizon spread through transition, a process termed “slabization,” or a mix of both. Notably, the prevalent cremation practices observed during the initial phases of slab settlements lack sufficient genetic data. In a recent investigation, scientists sequenced the genomes of 555 ancient individuals, including 359 samples from the Slavic context dating back to the 7th century AD. The new findings reveal significant population movements in Eastern Europe between the 6th and 8th centuries, which replaced over 80% of the local gene pools in areas such as East Germany, Poland, and Croatia.
The seal of Yaroslav, the grand prince of Kiev from 1019 to 1054, and the father of Anna Yaroslav, the Queen of France. Image credit: Sheremetievs Museum.
The term “Slavs” first emerged to describe a nation in Constantinople during the 6th century and later gained recognition in the West.
Written records initially appeared north of the Lowward Now River and subsequently shifted to regions north of the Carpathian Basin, the Balkans, and the Eastern Alps.
Many areas were under the influence of the Avar Khaganate along the central Danube from around 567 AD to 800 AD.
Evidence indicates the presence of slab cultures in several regions of Eastern and Southeastern Europe during the 7th century.
Slavic settlements, previously inhabited by Roman, Germanic, and other pre-Slavic communities, transitioned to a simpler lifestyle, often represented archaeologically by small pithouse settlements, cremation burials, handmade and unembellished pottery, and a modest low-metal material culture associated with the Pragukorchak group.
Later, more sophisticated social structures and control emerged within the contact zone of the Byzantine-Christian West.
The Transformation of Europe by the Slavs
The first comprehensive ancient DNA analysis of medieval Slavic groups reveals that the rise of the Slavs was fundamentally a narrative of migration.
Their genetic signature points to origins in an area spanning southern Belarus to central Ukraine, aligning with longstanding linguistic and archaeological theories.
“Although direct evidence from the early Slavic core regions is still limited, our genetic findings provide initial substantial insights into the formation of Slavic ancestors, suggesting origins that may lie between the Donets and Don rivers.”
In this study, Dr. Gretzinger and colleagues gathered genome-wide data from 555 distinct ancient individuals from 26 sites throughout Central and Eastern Europe. They combined this with previously published data, creating comprehensive sampling networks for three regions.
New findings indicate that starting in the 6th century AD, large-scale migrations spread Eastern European ancestry throughout a vast area of central and eastern Europe, thus altering the genetic make-up of regions such as East Germany and Poland.
However, this expansion did not conform to a model of conquest or empire. Rather than obliterating existing military and structural hierarchies, newcomers founded new communities centered around extended families and patriarchal kinships.
This pattern was not uniform across all areas.
In eastern Germany, the changes were significant. Large, multi-generational lineages formed the backbone of society, and kinship networks became more broadly structured compared to the smaller nuclear families observed in earlier migration phases.
In contrast, areas such as Croatia experienced much less disruption in existing social patterns with the arrival of Eastern European groups.
Here, social structures often retained characteristics from previous periods, resulting in communities where new traditions harmonized with existing ones.
The regional diversity in social frameworks highlights that the spread of the Slavic group was not a one-size-fits-all process, but rather a dynamic adaptation to local contexts and histories.
“The expansion of the Slavs does not occur as a single event; it demonstrates that it is not a monolithic phenomenon, but each instance blends adaptation and integration according to its circumstances.”
Historical Overview of European Slabs: The timeline lists major historical events related to Central European Slabs. This map illustrates historical proof of the appearance of the slab (Sklavenoi – Slavvi – Winedi). The italic count indicates the date of the proven event, with each report date being in the bracket. Image credit: Gretzinger et al., doi: 10.1038/s41586-025-09437-6.
East Germany
The genetic data reveals a particularly significant narrative in East Germany.
Following the decline of the Kingdom of Thuringia, more than 85% of the region’s ancestry can be traced back to new arrivals from the east.
This reflects a shift from an earlier period of diverse populations, as epitomized by the Brucken site.
With the rise of the Slavs, this diversity gave way to a population composition resembling that of modern Slavic-speaking groups in Eastern Europe.
These new communities were structured around large extended families and patriarchal lineages, with women of marriageable age often moving to form new households elsewhere, leaving their native villages.
Notably, the genetic heritage of these initial Eastern European settlers is still present among the Sorbs, the Slavic-speaking minority in East Germany.
Amidst centuries of cultural and linguistic changes, Sorbs maintain genetic profiles closely related to early medieval Slavic populations that settled in the region over a millennium ago.
Poland
In Poland, research notably challenges previous assumptions regarding long-standing population continuity.
Genetic findings indicate that early inhabitants of the region, beginning in the 6th and 7th centuries AD—especially descendants of a population closely tied to Northern Europe and Scandinavia—were nearly completely replaced by newcomers from the East, closely related to modern Poles, Ukrainians, and Belarusians.
While overwhelming population shifts occurred, genetic evidence also reveals small traces of intermingling with local populations.
These insights underscore both the magnitude of population change and the intricate dynamics shaping the ancestry of present-day Central and Eastern European languages.
Croatia
In Northern Balkans, the patterns observed differ markedly from those in northern immigrant regions, narrating a tale of both transformation and continuity.
Ancient DNA analyses from Croatia and surrounding areas illustrate a significant influx of ancestors from Eastern Europe, yet without total genetic replacement.
Instead, Eastern European immigrants integrated with diverse local populations to form hybrid communities.
Genetic studies show that in modern Balkan populations, the proportion of Eastern European ancestry varies significantly, often reaching around half or less of the current genetic mix.
In this context, Slavic migration wasn’t characterized by conquest but was a gradual process of intermarriage and adaptation, leading to the rich cultural, linguistic, and genetic diversity that defines the Balkans today.
A New Chapter in European History
In most instances, when early Slavic groups are referenced in archaeological and historical contexts, their genetic markers are consistent, indicating a shared ancestral origin, though regional variations reflect the extent of blending with local populations.
In the north, early Germanic communities mostly left, providing space for Slavic integration.
In the south, Eastern European migrants merged with established societies.
This patchwork integration elucidates the remarkable diversity present in the cultures, languages, and genetics of contemporary Central and Eastern European societies.
“The spread of the Slavs was likely the last significant demographic event to irreversibly reshape both the genetic and linguistic landscapes of Europe,” remarked Dr. Johannes Kraus, director of the Max Planck Institute for Evolutionary Anthropology.
The findings were published in the journal on September 3rd Nature.
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J. Gretzinger et al. Ancient DNA connects large-scale migration with the spread of the Slavs. Nature, published online on September 3, 2025. doi:10.1038/s41586-025-09437-6
This article is adapted from the original release by the Max Planck Institute for Evolutionary Anthropology.
With a modern twist, the nostalgic cassette tape may be resurging in the form of DNA. Previously used solely as a medium for information storage, researchers have now fused the concept with the style of 1980s cassette tapes, leading to the innovation termed DNA cassettes.
Xingyu Jiang and his colleagues at the Southern University of Science and Technology in Guangdong, China, crafted these cassettes by printing synthetic DNA molecules onto plastic tapes. “The sequences can be designed in such a manner that the order of DNA bases (A, T, C, G) conveys digital information just like binary code (0 or 1) in a computer,” he remarks. This allows for the storage of all forms of digital files, from text and images to audio and video.
A significant challenge of earlier DNA storage methods was accessing the data. To remedy this, the team implemented a series of barcodes on the tape to simplify searching. “It’s akin to locating a book in a library,” explains Jiang. “You first identify the shelf corresponding to the book and then locate the specific book on that shelf.”
The tape is also treated with a protective coating dubbed “crystal armor,” made from zeolite imidazolate, which ensures the integrity of the DNA. This allows the cassettes to retain data for centuries without degradation.
While classic cassette tapes can hold around 12 songs per side, the new 100-meter DNA cassette can house over 3 billion pieces of music comprising 10 megabytes of songs. This results in an astounding total data storage capacity of 36 petabytes, comparable to a 36,000 terabyte hard drive.
However, Jiankai Li warns that if one were to place the new tape into an old-school Walkman, it wouldn’t produce sound. “Our tapes contain DNA molecules,” he notes. “It’s similar to trying to play a photograph on a record player—the formats simply don’t align.”
In a recent study, researchers examined the ancient microbial DNA of 483 mammoths, preserved for over a million years. This included 440 newly analyzed unpublished samples from Steppe Mammoths dating back 1.1 million years. Through metagenome screening, contaminant filtering, damage pattern analysis, and phylogenetic inference, they identified 310 microorganisms linked to various mammoth tissues.
Ginet et al. Partial genome reconstruction of erysipelothrix, representing the oldest confirmed host-related microbial DNA from the oldest mammoth samples. Image credit: Ginet et al., doi: 10.1016/j.cell.2025.08.003.
“Envision a mammoth tooth from a million years ago,” stated Dr. Benjamin Ginette, a postdoctoral researcher at Stockholm’s Paleogenetic Centre and the Swedish Museum of Natural History.
“Imagine if it still harbors traces of ancient microorganisms that existed alongside this mammoth?”
“Our findings push the boundaries of microbial DNA research beyond a million years, unlocking new avenues for understanding how host-associated microorganisms evolved in tandem with their hosts.”
The team discovered six microbial groups consistently linked to mammoth hosts, including relatives of Actinobacillus, Pasturella, Streptococcus, and erysipelothrix. Some of these microbes may have been pathogenic.
For instance, one Pasturella bacteria identified in this study is closely related to the pathogens responsible for a fatal outbreak among African elephants.
Given that African and Asian elephants are the closest living relatives of mammoths, these results raise concerns about whether mammoths could also be susceptible to similar infectious diseases.
Remarkably, scientists have reconstructed a partial genome of erysipelothrix from a Steppe Mammoth that lived 1.1 million years ago, marking the oldest known host-related microbial DNA ever recovered.
This advances our understanding of the interactions between ancient hosts and their microbiota.
“As microorganisms evolved rapidly, acquiring reliable DNA data spanning over a million years has felt like tracing a path that continually rewrites itself,” noted Dr. Tom van der Bark of the Paleobiological Centre and the Museum of Natural History in Sweden.
“Our discoveries illustrate that ancient artifacts can retain biological insights far beyond the host genome, offering a perspective on how microorganisms influenced Pleistocene ecosystem adaptation, disease, and extinction.”
Determining the exact impact of the identified microorganisms on mammoth health is challenging due to DNA degradation and limited comparative data, but this study provides an unparalleled view into the microbiota of extinct megafaunas.
The findings suggest that multiple microbial lines coexisted with mammoths for hundreds of thousands of years, spanning vast geographical areas and evolutionary timescales, from the extinction of woolly mammoths on Lengel Island over a million years ago to their decline around 4,000 years ago.
“This research opens a new chapter in understanding the biology of extinct species,” says Professor Love Darren, a researcher at the Swedish Museum of Natural History and the Paleogenetic Centre at Stockholm University.
“Not only can researchers study the mammoth genome itself, but they can also begin to explore the microbial communities that cohabited with it.”
This study was published this week in the journal Cell.
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Benjamin Ginet et al. Ancient host-related microorganisms recovered from mammoths. Cell published online on September 2, 2025. doi: 10.1016/j.cell.2025.08.003
Illustration of rapamycin (red), a drug that inhibits proteins known as MTOR (blue)
Science Photo Library/Alamy
The anti-aging benefits of rapamycin may be related, at least in part, to its ability to prevent DNA damage in immune cells.
Initially created as an immunosuppressant for organ transplant patients, rapamycin blocks the function of the MTOR protein, which is crucial for cell growth and division. Studies suggest that low doses can extend the lifespan of various organisms, including the mouse, potentially by disrupting processes associated with aging, such as inflammation, intracellular breakdown, and decline in mitochondrial function.
Recent research by Lynn Cox and colleagues at Oxford University has demonstrated that rapamycin also appears to prevent DNA damage in certain types of immune cells. DNA damage is one of the key factors contributing to aging in our immune system, accelerating the aging process throughout the body.
The researchers conducted experiments with human T cells, a type of white blood cell responsible for fighting infections. When T cells were exposed to an antibiotic named zeocin alongside rapamycin, significant DNA damage occurred.
Results showed that rapamycin lowered DNA damage and tripled cell survival rates compared to T cells exposed to zeocin alone.
The researchers found no indication that the observed effects were due to other actions of rapamycin, such as preventing cell failure. “We consistently observe this effect regardless of whether rapamycin is administered prior to, during, or post-injury,” noted team member Ghada Arsare at Oxford University.
The rapid response suggests a direct impact. “The effect is very swift, indicating it influences the DNA damage response and accumulation. The lesions observed last about four hours, so it’s unlikely that there are downstream effects impacting other processes,” explained Cox.
According to Matt Kaeberlein from Washington University in Seattle, the findings support the notion that rapamycin can directly protect DNA, but “this is not the critical mechanism.” Researchers aim to explore rapamycin-induced alterations in RNA and proteins produced in immune cells.
In a separate part of the study, nine men aged 50 to 80 were assigned to receive either 1 milligram of rapamycin or a placebo daily. Blood tests conducted eight weeks later revealed that T cells from men taking rapamycin exhibited less DNA damage. Furthermore, neither group experienced a decrease in overall white blood cell counts, indicating that rapamycin does not negatively impact immune functionality. “Our findings confirm that low doses are safe, which is crucial,” stated Cox.
Mitigating DNA damage in the immune system may provide a pathway for reducing overall aging, according to Cox. Arsare highlighted the potential for rapamycin to be used preventively, such as for astronauts exposed to cosmic radiation.
“Rapamycin is particularly promising in addressing aging-related issues where DNA damage is a significant factor, such as skin aging,” noted Kaeberlein. Referring to a study, he added that local use of rapamycin reduces aging markers in human skin. However, he cautioned against generalizing results to other types of damage, such as radiation, given that Cox’s team used antibiotics to create DNA damage.
Zahida Sultanova from the University of East Anglia emphasized the necessity for trials involving women and individuals across various age groups, as the placebo-controlled experiments were limited to older men. Evidence from non-human animal studies indicates that rapamycin may have sex-specific and age-specific effects.
Thousands of years ago, ancient Homo sapiens embarked on a perilous journey, traversing the icy expanses of the Bering Straits into the uncharted territories of the Americas. Recent research indicates that these migrants may have brought with them an extraordinary gift – MUC19 genes inherited from Denisovans, which could have played a pivotal role in helping humans adapt to the challenges of their new environments.
The concept of artist Peng Denisovan walking under the bright sun during the Pleistocene of Taiwan. Image credit: Cheng-Han Sun.
The modern human genome harbors a few archaic variants that are the remnants of past interbreeding events with Neanderthals and Denisovans.
While many of these variants are neutral, certain archaic mutations found in modern humans are believed to be targets of positive natural selection, possibly essential for human adaptation as they expanded into new lands.
The populations in the Americas encountered diverse environments, creating numerous opportunities for natural selection to favor archaic variations in these new settings.
This new research, spearheaded by a team from the University of Colorado, Boulder, and Brown University, focused on a gene known as MUC19, which aids in the production of proteins that form saliva and mucosal barriers in the respiratory and gastrointestinal tracts.
The researchers found that a Denisovan variant of MUC19 exists in the DNA of modern Latin Americans with Indigenous American ancestry, as well as in individuals excavated from archaeological sites across North and South America.
The prevalence of this gene in modern human populations suggests it was under significant natural selection, indicating that it conferred survival or reproductive advantages to those who carried it.
Although the specific benefits remain unclear, given the gene’s involvement in immune processes, it may have provided an enhanced defense against pathogens encountered by early settlers in the Americas.
“From an evolutionary perspective, this discovery illustrates how ancient interbreeding can produce effects that persist today,” stated Professor Emilia Fuerta Sanchez of Brown University.
“Biologically, it identifies genes that seem to be adaptable, though their precise functions are yet to be elucidated.”
“We hope this will spur further research into the actual roles of this gene.”
Limited information exists about Denisovans, who inhabited Asia between 300,000 and 30,000 years ago, with our knowledge primarily derived from small fossils found in Denisova Cave, two jawbones discovered in Tibet and Taiwan, and an almost complete skull unearthed in China this year.
Fossils from Siberian fingers contained ancient DNA, facilitating the search for genetic similarities between Denisovans and modern humans.
Previous studies have indicated that the Denisovan-derived gene EPAS1 may have contributed to the remarkable adaptations of Sherpas and other Tibetans.
In the current study, researchers compared Denisovan DNA with the most recent genomes obtained from the 1,000 Genomes Project, a global study on genetic variations.
They found that Denisovan-derived MUC19 variants are prevalent among Latino populations with Indigenous American ancestry.
The researchers also investigated DNA from 23 individuals excavated from archaeological sites in Alaska, California, Mexico, and other parts of the Americas, finding that Denisovan-derived variants were also common in these ancient peoples.
The authors conducted several independent statistical tests demonstrating that Denisovan MUC19 genetic mutations have reached unusually high frequencies in both ancient indigenous populations and present-day indigenous peoples, indicating genes that are situated on long stretches of archaic DNA.
They also revealed that the gene likely crossed over from Denisovans to another archaic population.
“These findings reveal that past interbreeding has introduced new and potentially advantageous genetic variations into human lineages,” Professor Fuerta Sanchez remarked.
“New genetic variations typically arise through slow evolutionary processes.”
“However, these interbreeding events were a sudden means of introducing a plethora of new variations.”
“In this instance, the novel genetic reservoir seems to have aided modern humans migrating to the Americas and may have bolstered their immune systems.”
“Clearly, this gene was advantageous for these populations.”
“We hope that recognizing the significance of these genes will inspire new investigations into their functions to uncover fresh biological mechanisms, particularly relating to coding genetic variants that modify protein sequences.”
Fernando A. Villania et al. 2025 MUC19 Genes: The evolutionary history of recurrent variants and natural selection. Science 389 (6762); doi:10.1126/science.adl0882
Updown Cemetery Girl’s Skeletons Reveal West African Ancestry
M George et al.
The discovery of two unrelated young men buried in British cemeteries during the early Middle Ages suggests they may have had grandparents from West Africa. The exact means by which their ancestors arrived in the UK remains unknown, but this insight implies that Anglo-Saxon immigration was far more complex than previously assumed.
Following the Romans’ withdrawal from England in 410 AD, the British Isles were invaded and settled by Germanic tribes including the Angles, Saxons, and Jutes. To explore the possibility of migration from other regions, Duncan Sayer and his colleagues from The University of Central Lancashire conducted an analysis of ancient DNA obtained from skeletons in two 7th-century cemeteries located on the southern coast of England.
One of these cemeteries is found in Kent, where a wealth of traded artifacts from various regions were unearthed, including Frankish pottery, buckles, and brooches. Burial customs at this site indicate that items such as cookware, cutlery, and combs were included with the dead.
The other site is the Matravars cemetery in western Dorset, which had fewer individuals interred with Romano-British practices.
While the majority of individuals buried here had ancestry from Northern Europeans or Western British and Irish, both the Updown girl and the young man from Worth Matravers exhibited genetic ties to West Africa, likely from grandparents.
In both cases, mitochondrial DNA, inherited maternally, traced back to Northern Europe; however, the autosomal DNA, inherited from both parents, revealed 20-40% ancestry from West African groups such as Esan, Yoruba, Mende, and Mandinka.
This indicates that the West African DNA likely traces back to their grandparents, marking the first known genetic link between Britain and Africa during the early Middle Ages.
Both individuals were interred as typical members of their community. DNA analysis revealed that the Updown girl had relatives—a grandmother and an aunt—buried in the same cemetery, who were approximately 11-13 years old when she died.
Examination of the carbon-nitrogen isotope ratios in the bone samples of the young man from Worth Matravers, who lived between the ages of 17 and 25, suggested insights into his diet during his growth period.
“His dietary habits suggest he was born and raised in the UK,” notes team member Ceiridwen Edwards from Huddersfield University.
Edwards indicates that evidence of West African DNA in York existed during the Roman period; however, Sayer contends that the proportion of West African DNA in these individuals is significantly lower than that of descendants from the Roman era. “This finding pertains to grandparents, rather than survivors of the Roman legions or administrators stationed for centuries,” he asserts.
Moreover, there is no evidence to support the notion that these individuals were enslaved, according to Sayer:
Instead, it suggests a context of transactions and mobility of people and goods. At some point, West Africans may have arrived in England aboard trade ships and settled here.
Sayer speculates that their arrival could have been tied to North Africa’s connection with the Byzantine Empire in the 6th century, driven by military interests in accessing gold from sub-Saharan Africa. “The revitalization of this trade route coincides with a time when we can identify these grandparents,” he remarks.
“This research underscores the dynamic state of what we refer to as post-[Western] Rome and the early medieval period in England,” comments Marina Soares da Silva at the Francis Crick Institute in London. “The authors propose a trade route supported by Byzantine governance in North Africa, which I consider a plausible scenario.”
According to Sayer, 7th-century England was not merely a collection of isolated communities in a ‘dark age,’ but rather dynamic societies engaging in trade and genetic exchanges with West Africa and beyond.
Historic Herculaneum – Discover Vesuvius, Pompeii, Ancient Naples
The exploration of history and archaeology takes you on an intriguing journey where the past comes alive through Mount Vesuvius and the ruins of Pompeii and Herculaneum.
Recent research conducted by scientists at the University of Utah sheds light on unlocking hibernation abilities, potentially paving the way for treatments that could reverse neurodegeneration and diabetes.
Investigating the evolution of hibernation in certain species like helinates, bats, ground squirrels, and lemurs can unveil the mysteries of their extraordinary resilience. Image credit: Chrissy Richards.
Gene clusters known as fat mass and obesity (FTO) loci are crucial to understanding hibernation capabilities. Interestingly, these genes are also present in humans.
“What stands out in this region is that it represents the most significant genetic risk factor for obesity in humans,” states Professor Chris Greg, the lead author of both studies from the University of Utah.
“Hibernators seem to leverage genes in the FTO locus uniquely.”
Professor Greg and his team discovered DNA regions specific to hibernation factors near the FTO locus that regulate the expression of nearby genes, modulating their activity.
They hypothesize that hibernators can accumulate weight prior to entering winter by adjusting the expression of adjacent genes, particularly those at or near the FTO locus, utilizing fat reserves gradually for winter energy needs.
Moreover, regulatory regions linked to hibernation outside the FTO locus appear to play a significant role in fine-tuning metabolism.
When the research team mutated these hibernation factor-specific regions in mice, they observed variations in body weight and metabolism.
Some mutations accelerated or inhibited weight gain under specific dietary conditions, while others affected the mice’s ability to restore body temperature post-hibernation or regulate their overall metabolic rate.
Interestingly, the hibernator-specific DNA regions identified by researchers are not genes themselves.
Instead, this region comprises a DNA sequence that interacts with nearby genes, modulating their expression like conductors guiding an orchestra to adjust volume levels.
“This indicates that mutating a single hibernator-specific region can influence a broad array of effects well beyond the FTO locus,” notes Dr. Susan Steinwand from the University of Utah. First study.
“Targeting a small, inconspicuous DNA region can alter the activity of hundreds of genes, which is quite unexpected.”
Gaining insight into the metabolic flexibility of hibernators may enhance the treatment of human metabolic disorders like type 2 diabetes.
“If we can manipulate more genes related to hibernation, we may find a way to overcome type 2 diabetes similar to how hibernators transition back to normal metabolic states,” says Dr. Elliot Ferris, Ph.D., of the University of Utah. Second survey.
Locating genetic regions associated with hibernation poses a challenge akin to extracting needles from a vast haystack of DNA.
To pinpoint relevant areas, scientists employed various whole-genome technologies to investigate which regions correlate with hibernation.
They then sought overlaps among the outcomes of each method.
Firstly, they searched for DNA sequences common to most mammals that have recently evolved in hibernators.
“This region has remained relatively unchanged among species for over 100 million years; however, if significant alterations occur in two hibernating mammals, it signals critical features for hibernation,” remarked Dr. Ferris.
To comprehend the biological mechanisms of hibernation, researchers tested and identified genes that exhibited fluctuations during fasting in mice, producing metabolic alterations similar to those seen in hibernation.
Subsequently, they identified genes that serve as central regulators or hubs for these fasting-induced gene expressions.
Numerous recently altered DNA regions in hibernators appear to interact with these central hub genes.
Consequently, the researchers predict that the evolution of hibernation necessitates specific modulations in hub gene regulation.
These regulatory mechanisms constitute a potential candidate list of DNA elements for future investigation.
Most alterations related to hibernation factors in the genome seem to disrupt the function of specific DNA rather than impart new capabilities.
This implies that hibernation may have shed constraints, allowing for great flexibility in metabolic control.
In essence, the human metabolic regulator is constrained to a narrow energy expenditure range, whereas, for hibernators, this restriction may not exist.
Hibernation not only reverses neurodegeneration but also prevents muscle atrophy, maintains health amidst significant weight fluctuations, and suggests enhanced aging and longevity.
Researchers surmise that their findings imply if humans can bypass certain metabolic switches, they may already possess a genetic blueprint akin to a hibernation factor superpower.
“Many individuals may already have the genetic structure in place,” stated Dr. Steinwand.
“We must identify the control switches for these hibernation traits.”
“Mastering this process could enable researchers to bestow similar resilience upon humans.”
“Understanding these hibernation-associated genomic mechanisms provides an opportunity to potentially intervene and devise strategies for tackling age-related diseases,” remarks Professor Greg.
“If such mechanisms are embedded within our existing genome, we could learn from hibernation to enhance our health.”
The findings are published in two papers in the journal Science.
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Susan Steinwand et al. 2025. Conserved non-coding CIS elements associated with hibernation regulate metabolism and behavioral adaptation in mice. Science 389 (6759): 501-507; doi: 10.1126/science.adp4701
Elliot Ferris et al. 2025. Genome convergence in hibernating mammals reveals the genetics of metabolic regulation of the hypothalamus. Science 389 (6759): 494-500; doi: 10.1126/science.adp4025
Napoleon’s retreat from Russia in 1812 Ary Scheffer
Iandagnall Computing / Alamy Stock Photo
During the retreat of Napoleon’s formidable 500,000-strong army from Russia in 1812, nearly half of the troops fell victim to disease, starvation, and freezing temperatures. Recent advanced DNA analysis is shedding light on the pathogens involved in this tragic demise.
In the summer of 1812, Napoleon amassed an army of 600,000 to invade Russia but was compelled to withdraw from Moscow, depleting the city of resources, and retreat toward the Polish border for the winter. From October to December 1812, around 300,000 French soldiers perished from famine, exposure, and illness.
Survivor accounts from that era indicate that typhoid fever and trench fever were leading causes of mortality and suffering among the troops, a premise that was further validated by genetic testing conducted nearly two decades ago.
Recently, Nicholas Rascovan and his team at the Pasteur Institute in Paris analyzed DNA extracted from the teeth of 13 soldiers interred in Vilnius, Lithuania.
The research team identified the presence of Salmonella enterica, which triggers peritoneal fever, and Borrelia recurrentis, a louse-borne pathogen that leads to recurrent fever.
Unlike earlier studies that relied on methods to amplify specific DNA sequences, Rascovan and his colleagues utilized advanced metagenomic techniques to detect genetic material from pathogens in the samples, allowing for a more extensive analysis.
“Considering our findings, it is plausible that the deaths of these soldiers were due to a combination of various illnesses, including fatigue, colds, lactophoreal fever, and louse-borne recurrent fever,” Rascovan and his team noted in an unpublished report. The team opted not to comment further on the story.
While not always lethal, louse-borne recurrent fever can considerably debilitate individuals who are already in a weakened state, according to the researchers.
Sally Wasef from the Queensland Institute of Technology in Australia opines that historical accounts of symptoms may correspond to multiple infectious diseases beyond those identified in the recent study.
Traces of microbial DNA were isolated from ancient remains, according to Wasef. “In my opinion, this implies that the conclusions drawn are more suggestive than definitive.”
Rascovan and his colleagues also acknowledge the necessity of examining a greater number of soldiers who perished during 1812.
The research underscores the potential of novel methodologies to identify possible infectious agents in historical populations, Wasef explains. She advocates for applying these techniques to study diseases in populations post-contact in regions like the US or Australia.
“Such research holds great promise for uncovering the impact of disease on historical population declines, particularly when written records are sparse or biased,” states Wasef.
E. coli can lead to serious illnesses, yet is frequently utilized in pharmaceutical development.
Victor Habbick Visions/Science Photo Library
Unlike the natural evolution of life forms, our ability to create life has reached new heights. The genome of an E. coli bacterium has been meticulously redesigned via computer simulations, utilizing just 57 out of the 64 genetic codons. This synthetic genome was built from the ground up and introduced into living bacterial cells.
“This was a massive undertaking,” states Wesley Robertson from the Institute of Medical Research in Molecular Biology, Cambridge, UK.
The objective was to demonstrate the feasibility of this approach, with the 57 codons, termed Syn57, offering commercial applications. Future modifications could enable Syn57 to develop complete resistance to viral infections, a significant benefit for the industrial production of proteins used in pharmaceuticals, food, or cosmetics. Since viral proteins depend on their hosts to produce, altering the genetic code can lead to erroneous viral proteins.
Moreover, additional modifications permit Syn57 to synthesize proteins containing up to 27 amino acids, whereas natural proteins are limited to 20. These synthetic proteins hold potential for functions unattainable with conventional proteins.
A protein is essentially a sequence of amino acids arranged in a specified order determined by a gene. Each triplet of DNA bases, known as a codon, instructs the synthesis machinery on when to add the next amino acid or when to cease the protein assembly.
There are four DNA bases that combine to produce 64 distinct codons. However, organisms on Earth typically utilize only 20 amino acids, leading to considerable redundancy, with multiple codons corresponding to each amino acid.
If all instances of a specific codon for an amino acid were substituted with another codon for the same amino acid, that original codon could then be repurposed. For instance, it could code for non-natural amino acids or alternative chemicals, facilitating the creation of novel protein types.
Theoretically, only 21 unique codons are required, allowing for a biological organism to free up to 43 codons—one for each natural amino acid and one stop codon. However, this is not yet feasible, as increasing genetic alterations raises the likelihood of harmful unintended consequences.
Instead, biologists are taking a more measured approach. In 2011, an edit of 314 genes in E. coli aimed to free one codon.
Because executing thousands of genetic edits is so labor-intensive, Robertson and his team opted to synthesize the DNA from scratch. In 2019, they introduced Syn61, incorporating 18,000 changes across 4 million DNA bases, achieving the release of three codons in the E. coli genome. A derivative company named Constructive.Bio is working on commercial applications.
Currently, researchers are implementing 101,000 modifications to release seven codons within Syn57. This process necessitated testing small sections of the reconstructed genome on live bacterial cultures to identify and rectify harmful changes. This complex procedure was repeated with progressively larger genome fragments until the entire structure was reassembled.
“This marks a significant achievement, resulting from years of effort,” mentions Akos Nyerges at Harvard Medical School. Nyerges’ team is also working to release seven codons in E. coli via different codon reproductions. “Our journey with the 57 codons in E. coli is ongoing,” he adds.
While Syn57 is already fully established, its growth rate is significantly slower than that of typical strains. Enhancements in this aspect are essential for commercial viability. “We anticipate being able to improve the growth rates, making it more beneficial,” remarks Robertson.
For the time being, his focus will be on investigating the potential applications of Syn57 rather than attempting further codon releases. “There’s still a great deal to accomplish before contemplating even more compressed genetic codes,” he concludes.
The first synthetic genome bacteria were created in 2010, but their design aimed more at simplifying organisms than at codon recovery.
The intersection of anatomically modern Homo sapiens and Neanderthals thousands of years ago might contribute to Chiari malformation type 1, a serious neurological condition that affects an estimated 1% of today’s population.
Homo sapiens: Homo erectus, Homo heidelbergensis, and Homo neanderthalensis. Plomp et al. utilized 3D data and geometric morphometry to investigate this hypothesis. Image credit: Neanderthal Museum.” width=”580″ height=”618″ srcset=”https://cdn.sci.news/images/2014/04/image_1837-Neanderthal.jpg 580w, https://cdn.sci.news/images/2014/04/image_1837-Neanderthal-281×300.jpg 281w” sizes=”(max-width: 580px) 100vw, 580px”/>
In 2013, scientists surmised that Chiari malformation type 1 might arise from cranial development genes tracing back to three smaller extinct Homo species: Homo erectus, Homo heidelbergensis, and Homo neanderthalensis. Plomp et al. employed 3D data and geometric morphometry to evaluate this hypothesis. Image credit: Neanderthal Museum.
Chiari malformation type 1 occurs when the rear of the skull is insufficiently sized to accommodate the brain, causing a portion of the brain to protrude from the skull into the spinal canal.
This condition can compress the herniated brain tissue, resulting in symptoms such as headaches, neck pain, and dizziness. In severe instances, this can lead to life-threatening complications.
“In medicine, as in all sciences, clarifying the causal chain is vital.”
“The clearer the causal relationships, the greater the chances that the condition can be effectively managed or even resolved.”
“Further testing of the hypothesis is needed, but our study may bring us a step closer to understanding the causal chain that leads to Chiari malformation type 1.”
In 2010, genetic evidence emerged indicating that modern humans interbred with Neanderthals tens of thousands of years ago.
Individuals of non-African descent carry approximately 2-5% Neanderthal DNA, tracing back to these ancestral mating interactions.
The hypothesis suggesting that Chiari malformation type 1 may stem from ancient Homo genes entering the human gene pool through mating was first proposed by researcher Evens Barbosa Fernandez from the University of Campinas.
Dr. Fernandez hypothesized that the differences in skull structure between modern humans and other Homo species play a significant role in causing malformations.
In this study, Professor Mark Collado, PhD, Kimberly Promp at the University of the Philippines Diliman, and colleagues employed modern imaging techniques and advanced statistical shape analysis to compare 3D models of living humans with those of Homo sapiens, Neanderthals, Homo heidelbergensis, and Homo erectus.
The findings revealed that individuals with Chiari malformations exhibit more similar skull shapes to Neanderthals than those without such malformations.
Notably, all other fossil skulls align more closely with modern humans lacking Chiari malformation type 1, supporting the hypothesis that certain individuals today carry Neanderthal genes that influence skull shape, potentially leading to a mismatch between skull dimensions and the shape of the modern human brain.
This discrepancy could result in insufficient space within the skull, causing the brain to extend into the spinal cord, which is the only available outlet.
Given that various global populations possess different levels of Neanderthal DNA, this study suggests that certain European and Asian populations may be more susceptible to Chiari malformation type 1, although additional research is needed to validate this.
“The study of archaeology and human evolution is not merely fascinating,” Professor Collado remarked.
“It could offer insights into current health challenges.”
“In this instance, fossils have provided clarity about the condition, but numerous modern issues also help illuminate archaeological and paleontological findings.”
Study published in the journal Evolution, Medicine, Public Health.
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Kimberly Promp et al. 2025. An ancient hypothesis regarding Homo introduction and Chiari malformation type I Evolution, Medicine, Public Health 13(1):154-166; doi:10.1093/end/eoaf009
Eight young children seem to be shielded from severe genetic disorders following their birth through a three-parent DNA technique. This method involved replacing defective maternal mitochondria with those from a female donor.
Approximately 1 in 5,000 individuals carry mitochondrial defects that provide energy to cells and are inherited solely from the mother. Such defects may result from genetic mutations leading to issues like blindness, seizures, and, in extreme cases, death. “Families find it incredibly challenging to cope with these diseases. They are heart-wrenching,” states Bobby McFarland from Newcastle University, UK.
In 2015, the UK first sanctioned a procedure called pronuclear transfer for women at high risk of passing on mitochondrial conditions, particularly those who cannot benefit from pre-implantation genetic testing.
This nuclear transfer technique utilizes eggs from both mothers and donors, which are fertilized with paternal sperm via IVF. After roughly 10 hours, the nuclei from both eggs are extracted, leaving behind the crucial genetic material that is separate from mitochondrial DNA.
The nucleus from the mother is subsequently inserted into the donor’s egg, yielding an embryo that primarily inherits DNA from its biological parent while acquiring mitochondria from the donor. Some mitochondrial DNA from the mother may still be unintentionally transmitted, according to Burt Smeet from Maastricht University in the Netherlands.
McFarland, who pioneered this method with her team, has applied the technique to 19 women harboring harmful mutations in over 80% of their mitochondria, typically the level that causes issues.
Seven of the women achieved pregnancy after the final embryo transfer, resulting in eight healthy births, including one pair of twins.
The researchers evaluated blood samples from the newborns, finding no harmful mitochondrial DNA mutations in five, and only trace levels in the remaining three. “The results have exceeded expectations,” says Mike Murphy from Cambridge University.
In the months or years following these nuclear transfers, all children have shown progress with developmental milestones. However, some may encounter complications that may or may not be linked to the procedure. For instance, one child developed high blood fat levels and an abnormal heartbeat, both of which were successfully addressed, while another experienced epilepsy at 7 months old, which resolved on its own.
The research team plans to monitor these children to assess the long-term consequences of the procedure.
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