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Can Gene Editing Cure Prion Diseases? | Insights from Cyworthy

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DNA molecules are essential carriers of genetic information, including partner molecules. RNA encodes the building blocks of life, specifically amino acids. Together, DNA, RNA, and amino acids form larger structures known as genes, which make up the genetic code for proteins that perform vital functions or contribute to other significant biomolecules.

Occasionally, the RNA within a gene may contain defects that can severely impact protein functionality. Such misfolded proteins, which can lead to fatal diseases, are known as prions. Researchers are optimistic that advancements in RNA editing technology, such as CRISPR, could provide treatment for prion diseases.

The possibility of this treatment has been known since scientists first identified bacteria using natural gene editing methods to combat viruses. Recently, medical researchers from institutions such as Harvard University, the Massachusetts Institute of Technology, and Case Western University conducted a pilot study to explore CRISPR’s effectiveness against prion diseases. The research team aimed to identify defective RNA regions within the genome and modify the corresponding genes. This process involved pinpointing the start and stop codons crucial for gene expression.

In laboratory experiments, scientists collected RNA from mice infected with human prion diseases. Utilizing CRISPR technology, they modified the defective RNA at the molecular level by inserting new start and stop codons to prevent replication. They employed sgRNA designed to produce non-functional proteins. Three versions of the sgRNA were tested: sgRNA, F-sgRNA, and F+E-sgRNA.

The researchers administered a medically approved vector, specifically an adeno-associated virus loaded with modified sgRNA, into mice infected with prion disease. They hypothesized that successful intervention would halt prion replication and prevent related disorders.

To evaluate this, scientists used two groups of mice, one experimental group receiving the modified sgRNAs and a control group receiving none. At ages 6 to 9 weeks, both groups were injected with various strains of human prion disease. Subsequently, only the experimental group was treated with sgRNA between 7 to 10 weeks old.

The mice were monitored for 92 to 95 weeks, recording behavioral changes, weight fluctuation, and lifespan. Post-experiment, researchers compared the health outcomes of both groups to determine the efficacy of the treatment. The findings were promising: treated mice exhibited nearly a 60% increase in lifespan compared to their control counterparts.

To assess the experiment’s success, researchers euthanized the mice post-study and analyzed their brains. They were particularly concerned with ensuring that the edited RNA targeted the proper genes, avoiding off-target editing that could lead to unpredictable outcomes. A thorough examination for possible side effects and abnormalities not linked to prion activity was conducted.

Additionally, they assessed the prion activity to confirm the impact of CRISPR on the targeted RNA strand, focusing on prion protein levels in mice. They observed that treated mice had prion protein levels 4% to 40% lower than those in the control group, with the F+E-sgRNA treatment yielding a 43% reduction in prion levels.

The research team concluded that CRISPR gene editing holds potential for combating prion diseases in mice. However, the significant off-target editing observed could present risks in human applications due to possible adverse effects. The researchers recommend future investigations continue using rodent models until more precise editing techniques are developed. Nevertheless, these results symbolize a meaningful advance toward potential treatments for prion ailments in humans.

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Source: sciworthy.com

Gene Removal Reverses Alzheimer’s Disease in Mice: Breakthrough Findings from Sciworthy

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Alzheimer’s disease presents significant challenges, transforming a cherished family member into someone who often fails to recognize their true self. Many individuals ponder the reasons behind the erosion of memories and personalities. Researchers have identified the primary driver of Alzheimer’s as the accumulation of a brain protein known as Tau.

Under normal circumstances, tau protein plays a crucial role in preserving the health of nerve cells by stabilizing the microtubules, which function as pathways for nutrient transport. However, in Alzheimer’s patients, tau protein becomes twisted and tangled, obstructing communication between cells. These tau tangles are now recognized by medical professionals as a defining characteristic of Alzheimer’s disease, serving as indicators of cognitive decline.

Recent studies have shown that tau tangles correlate with diminished brain function in individuals affected by Alzheimer’s disease. Additionally, the apolipoprotein E4 (APOE4) gene is closely linked to late-onset Alzheimer’s and may exacerbate tau tangling. This gene encodes a protein involved in transporting fats and cholesterol to nerve cells throughout the brain.

A team from the University of California, San Francisco, and the Gladstone Institute has discovered that eliminating APOE4 from nerve cells can mitigate cognitive issues associated with Alzheimer’s. Their research involved specially bred mice exhibiting tau tangles and various forms of the human APOE gene, specifically APOE4 and APOE3. The aim was to determine if APOE4 directly contributes to Alzheimer’s-related brain damage and if its removal could halt cognitive decline.

To investigate the impact of the APOE4 gene, the researchers introduced a virus containing abnormal tau protein into one side of each mouse’s hippocampus. When the mice reached 10 months of age, the team conducted various tests—including MRI scans, staining of brain regions, microscopy, brain activity assessments, and RNA sequencing—to analyze the accumulation of tau protein in the brains of those with and without the APOE4 gene.

The findings revealed significant discrepancies between the two groups. Mice with the APOE4 gene displayed a higher prevalence of tau tangles, a marked decline in brain function, and increased neuronal death, while those with the APOE3 gene exhibited minimal tau deposits and no cognitive decline.

Next, the researchers employed a protein linked to an enzyme called CRE to excise the APOE4 gene from mouse nerve cells, subsequently measuring tau levels with a specialized dye. The results indicated a significant reduction in tau tangles, dropping from nearly 50% to around 10%. In contrast, mice carrying the APOE3 gene saw an even smaller reduction from just under 10% to approximately 3%.

Additionally, a different dye was utilized to quantify amyloid plaques—another protein cluster frequently found in Alzheimer’s cases. The outcomes showed that, following removal of the APOE4 gene, amyloid plaque levels decreased from roughly 20% to less than 10%. Mice with the APOE3 gene, however, displayed no notable change, consistently maintaining around 10% amyloid plaques.

The researchers further analyzed the RNA of the mice to understand how APOE4 affects neurons and other brain cells. Their observations confirmed that the presence of APOE4 correlated with an uptick in Alzheimer’s-related brain cells. This finding helped illustrate that eliminating APOE4 from nerve cells resulted in diminished responses associated with Alzheimer’s disease.

In conclusion, the researchers determined that APOE4 is detrimental and may actively induce Alzheimer’s-like damage in the brains of mice. While further validation in human subjects is needed, the implications of this gene may pave the way for developing targeted therapies for Alzheimer’s disease.

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Source: sciworthy.com

Breakthrough Gene Therapy for Huntington’s Disease Demonstrates Promising Results in 2025

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Huntington’s Disease: A Gradual Destruction of Brain Cells.

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This year marks a watershed moment in addressing Huntington’s disease, a rare yet impactful form of dementia. Researchers have achieved a groundbreaking milestone with an experimental gene therapy that effectively slows the advancement of this debilitating condition for the first time ever. This represents a significant breakthrough in the search for viable treatments.

According to Sarah Tabrizi from University College London, “This is a monumental step forward,” referencing the successes observed in late-stage trials earlier this year. “We now understand that Huntington’s disease is potentially treatable, presenting us with a tremendous opportunity.”

Huntington’s disease stems from a genetic mutation that causes the normally benign huntingtin protein to cluster into harmful aggregates within the brain. This accumulation leads to gradual deterioration of brain cells, hindering movement, cognitive function, and emotional well-being. Currently, no approved treatments halt the progression of symptoms, and care primarily focuses on supporting affected individuals.

The novel treatment, dubbed AMT-130, directly targets these abnormal proteins by delivering genetic instructions to brain cells, instructing them to produce molecules that inhibit protein formation.

In a recent investigation, Tabrizi and her team administered high doses of AMT-130 to 17 patients with Huntington’s disease. They evaluated changes in cognitive, motor, and daily functioning over a three-year period compared to a control group. Preliminary results released by the drug’s manufacturer, biotechnology firm uniQure, indicate a remarkable 75% average slowdown in symptom progression.

“Huntington’s disease treatment has faced numerous challenges in recent years,” stated Sarah O’Shea at Mount Sinai in New York, who was not involved in the study. “This accomplishment is significant, not just in delaying the disease’s progression but also because it arrives at a crucial time when hope is desperately needed.”

Nevertheless, this innovative treatment does come with its own set of challenges. Tabrizi explained that the 12- to 18-hour surgical procedure required to deliver the treatment deep within the brain is only accessible in a limited number of facilities in select countries, including the U.S. and U.K. Additionally, if approved, the treatment is likely to be prohibitively expensive. “Will it be accessible to all? Achieving that will be a challenge,” she remarked.

To navigate these hurdles, Tabrizi and her team are developing an alternative therapy that involves injecting the fluid around the spinal cord. “We’re currently conducting a Phase I study, and the first patient was treated in November 2024,” Tabrizi noted, with safety results expected by July 2026.

Meanwhile, uniQure’s executives revealed in September plans to submit AMT-130 for FDA approval in early 2026. However, the submission timeline is now uncertain, as the FDA has expressed concerns regarding the study plan and the control group, which consists of *non-treatment* patients drawn from a database.

The absence of a proper control group complicates the ability to discern the placebo effect on results. Still, given the surgical nature of the treatment, establishing such a group poses significant challenges.

“We firmly believe that AMT-130 holds substantial potential to benefit patients and are dedicated to collaborating with the FDA to expedite access to this treatment for families in need across the U.S.,” stated Matt Kapusta, CEO of uniQure.

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Source: www.newscientist.com

Many Individuals Carrying the High Cholesterol Gene Are Unaware, Study Reveals

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Experts caution that you might be unintentionally increasing your risk for a hereditary condition that leads to elevated cholesterol levels, according to new findings. Familial hypercholesterolemia can remain undetected for generations, thereby heightening the risk of heart attack and stroke for affected individuals, as reported.

This condition impacts approximately 1 in 200-250 individuals globally and leads to elevated levels of low-density lipoprotein (LDL) cholesterol from birth. LDL is often referred to as “bad” cholesterol because it contributes to arterial plaque buildup. However, researchers indicate it frequently goes unnoticed by standard testing methods.

To assess how many cases of familial hypercholesterolemia remain undiagnosed, Mayo Clinic researchers conducted an analysis involving 84,000 individuals. They specifically examined exome sequencing data, a genetic test that evaluates the segments of DNA that code for proteins.

Among these participants, 419 were identified as being at risk for familial hypercholesterolemia, with 90% unaware of their condition.

Adding to the concern, one in five of these individuals had already developed coronary artery disease.

The findings suggested that these patients would likely not be identified through standard genetic testing methods.

At present, genetic testing in the United States is only conducted on those exhibiting sufficiently high cholesterol levels or possessing a recorded family history of such levels—an issue identified by Mayo Clinic researchers as a “blind spot” in national guidelines. Seventy-five percent of those diagnosed in this study would not have qualified under these criteria.

The study emphasizes that regular screenings can reveal symptoms and potentially save lives, though other researchers highlight that this is not straightforward.

“The challenge is that screening everyone who would benefit from a genetic test can be prohibitively expensive, necessitating certain thresholds,” remarked cardiometabolic medicine researcher Professor Naveed Sattar in an interview with BBC Science Focus.

“Broadening screening efforts for familial hypercholesterolemia will only be feasible if testing costs decrease significantly. Nonetheless, we still need more individuals to undergo blood tests and seek genetic evaluations.”

Most individuals with familial hypercholesterolemia exhibit no symptoms. However, Sattar points out that yellowish deposits beneath the skin or, if under 45, a grayish-white ring around the eye’s cornea can indicate the condition.

“Yet, many people have no visible signs. If there is a strong family history of early heart attacks—especially if a first-degree relative experienced one before age 50—you should consider getting a lipid test earlier than the typical midlife screening.”

The findings were published in the journal Circulation: Genomic Medicine and Precision Medicine.

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Source: www.sciencefocus.com

Scientists Discover Gene Linked to Bud Size in Tea Plants

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Tea tree (Camellia sinensis) is among the most vital beverage crops globally. The size of tea buds not only impacts the yield and quality of fresh leaves but also influences the compatibility of various tea types. In a recent study, the Chinese Academy of Agricultural Sciences gathered images of apical buds at the one-bud, two-leaf stage from 280 representative tea lines. Their analysis of genetic diversity revealed that the length, width, circumference, and area of tea buds followed a normal distribution. A comparative transcriptome analysis of extreme bud sizes demonstrated a significant negative correlation between the expression levels of four substances. nox genes also showed a relationship with tea bud size, indicating that CsKNOX6 could be a key gene regulating tea bud size negatively.

Tea tree (Camellia sinensis). Image credit: Kim Young Han.

The tea plant stands out as one of the world’s leading beverage crops, cultivated in over 60 countries and consumed by more than 2 billion people globally.

In premium tea production, leaves are typically harvested based on criteria including one bud, one leaf per bud, and two leaves per bud.

Tea bud size not only significantly impacts the yield and quality of fresh leaves but is also closely linked to the processing potential of tea.

Various tea types have different shapes and specific requirements for bud and leaf size.

Research into the molecular mechanisms governing tea bud and leaf size has historically been sparse, hindering genetic improvement efforts.

Understanding the genetic regulatory frameworks of tea bud size is crucial for enhancing tea plant varieties and boosting yield.

In the study led by Dr. Jiedan Chen, the dimensions—length, width, circumference, and area—of buds were quantified across 280 diverse tea strains.

These traits exhibited continuous variation with high heritability, indicating robust genetic control.

Comparative transcriptome analysis of accessions with extreme bud sizes identified four candidate class I KNOX transcription factors that had significantly elevated expression in cultivars with smaller buds.

Among these, genome-wide association mapping is emphasizing CsKNOX6 as a likely pivotal regulatory gene.

CsKNOX6 is located on chromosome 10, with its sequence indicating nuclear localization, aligning with its role in transcription regulation.

To validate its functionality, researchers modelled CsKNOX6 in the plant Arabidopsis.

Transgenic plants exhibited abnormal shoot development, yielding significantly smaller leaves, with leaf area reduced to just 13% of wild-type levels.

This functional evidence substantiates the conclusion that CsKNOX6 serves as a negative regulator of bud and leaf size.

“Bud size is a critical attribute for both agricultural productivity and the quality of tea in the market,” scientists shared.

“Identifying CsKNOX6 creates direct genetic targets for selective breeding, including marker-driven improvements.”

“Although functional tests in Arabidopsis provide substantial support, future gene editing or transgenic validation in tea plants will be vital to confirm regulatory mechanisms in these perennial woody species.”

“This discovery paves the way for precision breeding strategies that enhance yield, consistency, and suitability of tea varieties.”

Identifying CsKNOX6 opens new possibilities for developing tea varieties with optimized bud sizes for various production goals, including premium hand-picked teas or high-yield mechanical harvesting.

This gene can be integrated into molecular breeding programs via SNP marker selection or gene editing approaches to fine-tune developmental growth.

A paper detailing this discovery was published in the journal horticultural research.

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Shuran Zhang et al. 2025. Integration of digital phenotyping, GWAS, and transcriptome analysis reveals key genes for tea plant bud size (Camellia sinensis). horticultural research 12(6):uhaf051; doi: 10.1093/hr/uhaf051

Source: www.sci.news

Grafting Technology Could Facilitate Gene Editing Across Diverse Plant Species

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Coffee trees can be propagated by grafting the shoots onto the rootstock of another plant

Sirichai Asawarapsakul/Getty Images

The time-honored method of grafting plants may hold contemporary relevance. This technique allows genetic modifications in species that are typically challenging or unfeasible to alter.

“Though it’s still in its formative stages, this technology shows immense promise,” says Hugo Logo from the University of Pisa, Italy.

Enhancing the yield and nutritional content of crops is vital to address the significant damages caused by farming practices and curbing skyrocketing food prices amid a rising global population and climate change’s impact on production. Utilizing CRISPR gene editing for precise enhancements is the most efficient approach.

However, plants present unique challenges due to their rigid cell walls, necessitating a cautious approach to gene editing. Traditional methods of plant genetic engineering involve techniques like biolistics, which shoot DNA-coated particles into plant cells, alongside employing naturally occurring genetically altered microorganisms like Agrobacterium.

These techniques typically require generating entire plants from modified cells, which is often impractical for various species, including trees such as cocoa, coffee, sunflower, cassava, avocado, etc.

Even if this method functions well, there lies another significant hurdle. When gene editing induces subtle mutations analogous to those that frequently occur in nature, regulatory bodies in certain regions may classify these plants as standard varieties, allowing them to proceed without the extensive and costly examinations required for conventional genetically modified crops. In contrast, biolistic and Agrobacterium-mediated methods often incorporate extra DNA into the plant’s genome, thus necessitating full regulatory scrutiny.

Researchers are exploring ways to refine plants without introducing superfluous DNA segments into the genome. One possibility involves utilizing viruses to deliver RNA carrying parts of the CRISPR toolkit to plant cells. However, a challenge arises since the Cas9 protein, widely used in gene editing, is substantial, making it difficult for most viruses to accommodate RNA that encodes it.

In 2023, Friedrich Kragler at the Max Planck Institute for Molecular Plant Physiology, Germany, unveiled an innovative approach. He discovered that plant roots generate a specific type of RNA capable of moving throughout the plant and infiltrating cells in the shoots and leaves.

His team modified plants to produce RNA encoding two essential components of CRISPR: a Cas protein for editing and a guide RNA that directs the editing process. They then grafted shoots from unaltered plants onto the roots of the engineered plants, demonstrating that some of the shoots and seeds underwent gene editing.

Rogo and his team regard this technique as so promising that they published a paper advocating for its further development. “Grafting enables us to harness the CRISPR system in species like trees and sunflowers,” Rogo states.

A notable advantage of grafting is its ability to unite relatively distantly related plants. For example, a tomato bud can be grafted onto a potato root. Therefore, while genetically engineering sunflower rootstocks for gene editing might not be feasible, it is plausible to engineer closely related plants to form compatible rootstocks.

Once you develop a rootstock that produces the required RNA, it can facilitate gene editing across various plants. “We can utilize the roots to supply Cas9 and editing guides to numerous elite varieties,” asserts Julian Hibbard at Cambridge University.

“Creating genetically modified rootstocks is not overly laborious since they only need to be developed once and can serve multiple species indefinitely,” he notes. Ralph Bock, also affiliated with the Max Planck Institute but not part of Kragler’s team, adds that this efficient method has wide applications.

For instance, only a limited number of grape varieties, such as Chardonnay, can be regenerated from an individual cell, making modification feasible. However, once a gene-edited rootstock is established that offers disease resistance, it will benefit all grape varieties and potentially more.

Rogo also foresees the possibility of integrating the transplant and viral techniques, where the rhizome can deliver the large mRNA of Cas9 while the virus provides the guide RNA. This way, he claims, the same rootstock could carry out various gene edits.

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Source: www.newscientist.com

Breakthroughs in Huntington’s Disease: Essential Insights on Gene Therapy

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The caudate nucleus is one of the brain regions that gene therapy targets

Kateryna Kon/Science Photo Library

Innovative gene therapy has emerged as the pioneering treatment that effectively slows the progression of Huntington’s disease. While the results are still in their early stages, this method holds significant promise and could even pave the way for new therapies for other neurodegenerative disorders, including Parkinson’s and Alzheimer’s diseases.

How does the treatment function?

The therapy known as AMT-130 specifically targets the abnormal brain proteins associated with Huntington’s disease progression. Those affected by the condition possess genetic mutations that result in the accumulation of huntingtin proteins, which form toxic aggregates in brain cells, leading to cell death. This eventually manifests as memory loss, mobility issues, speech impairment, and various other symptoms.

Therapies from the Dutch biopharmaceutical company Uniqure aim to halt the production of these mutant proteins. The process involves delivering genetic material to brain cells using a harmless virus. This genetic material instructs the cells to produce small RNA molecules called microRNAs that effectively block and eliminate the signals that lead to the generation of toxic proteins. It acts similarly to a molecular stop signal.

Procedures and Location of Treatment

This therapy initially focuses on two specific brain areas impacted by Huntington’s disease: the caudate nucleus and the putamen. These regions are located deep within the brain, requiring doctors to utilize real-time brain imaging to navigate thin catheters into place. The entire procedure duration ranges from 12 to 18 hours, and preliminary results suggest that a single injection may be adequate to permanently reduce levels of mutant huntingtin in the brain.

What is the efficacy of gene therapy?

Initial findings released by Uniqure indicate that gene therapy may slow the advancement of Huntington’s disease by approximately 75%.

The revelation stems from a clinical trial spearheaded by Sarah Tabrizi of University College London, where 17 Huntington patients received high-dose treatment. After three years, researchers noted the deterioration in cognitive function, motor skills, and daily activities compared to a similar group of untreated individuals. Tabrizi remarked that the decline typically observed over a year in untreated patients was instead noted within four years for those receiving treatment. BBC News. Additionally, those treated exhibited reduced levels of proteins associated with brain damage in their cerebrospinal fluid, highlighting the potential of gene therapy in slowing Huntington’s progression.

“These findings reaffirm our conviction that AMT-130 could revolutionize the treatment landscape for Huntington’s disease,” stated Walid Abi-Saad from Uniqure in a press release.

Are there any side effects?

While Uniqure has not provided comprehensive data on the side effects of the treatment, initial reports suggest that the drug appears to be safe and well-tolerated. The most frequently reported side effects included headaches and confusion, which generally resolved with steroid treatment to reduce inflammation.

When will the treatment be accessible?

In a recent press announcement, Uniqure indicated that it anticipates submitting an application to the U.S. Food and Drug Administration early next year, with the potential for product availability as soon as before 2027 with expedited approval.

“However, it is still in the preliminary phase, and further testing is necessary to assess the long-term effects of this new gene therapy and any potential side effects,” noted Zofia Miedzybrodzka from the University of Aberdeen, UK, in a statement.

Could this method assist in treating other brain disorders?

If successful, the gene therapy could facilitate the development of analogous treatments for various neurodegenerative diseases, including Parkinson’s and other forms of dementia, according to David Rubinsztein from Cambridge University. Researchers could manipulate genetic material to target the toxic proteins that cause these conditions. “This could represent a significant breakthrough,” he remarked.

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Source: www.newscientist.com

Gene Editing Could Soon Transform Our Meat: Here’s What It Means

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From hot dogs to crispy bacon, by 2026, many food staples in the US will utilize gene-edited meat. Indeed, the US Food and Drug Administration (FDA) has recently given the green light to the agricultural use of certain genetically enhanced pigs. Other global regulators may soon follow suit.

But should we be concerned? Is this modified pork safe? And what about the ethics of creating these pigs?

Firstly, it’s important to note that not all gene-edited animals are produced in a laboratory setting. Instead, these livestock come from animals whose DNA has been modified early in their development, often conferring advantageous traits starting from a single cell or fertilized egg.

This gene editing isn’t focused on enhancing pork flavor; it’s primarily aimed at safeguarding the pigs from diseases.

For instance, a UK company is currently developing genetic modifications in pigs that render them resistant to Porcine Reproductive and Respiratory Syndrome (PRRS), a virus that significantly weakens the immune system of pigs. PRRS poses a serious threat, leading to the deaths of piglets, miscarriages in pregnant sows, and increased vulnerability to other infections.

Pork is the third most consumed meat in the United States after chicken and beef.

These genetically enhanced pigs are significant particularly because there is currently no effective vaccine for PRRS.

The stakes are high, with efforts to manage PRRS costing the US pork industry about $1.2 billion (£878 million) each year.

When the virus does break through, the implications can be dire. In 2006, a pandemic in China infected over 2 million pigs, resulting in 400,000 deaths.

CRISPR Bacon

How much have these pigs really changed? That’s a valid concern. However, the actual modifications are surprisingly minor.

To combat the PRRS virus, scientists have edited out a portion of the CD163 protein in the pig’s DNA, which the virus uses to invade pig cells.

Pigs with this genetic modification show resistance to nearly all known strains of PRRS, but they are otherwise similar to conventional pigs. Despite initial fears that viruses could evolve to bypass edited proteins, this hasn’t occurred.

Dr. Christine Tait-Burkard, a researcher at the University of Edinburgh’s Roslin Institute, describes the original CD163 protein as “like nine beads on a string,” with only one bead—the fifth one—removed during editing.

This minor alteration is sufficient to block viral infection, she elucidates, while not significantly affecting other protein functions (such as those involved in clearing damaged red blood cells).

Interestingly, the gene rearrangement could also occur naturally in some pigs. “It’s possible there is a pig somewhere in the world resistant to this virus,” Tait-Burkard states. “However, we don’t have the luxury of time for natural breeding, so we must utilize biotechnology to introduce it into our breeding programs.”

The editing employs a toolkit known as CRISPR, a Nobel Prize-winning technology that has gained popularity in scientific research for its efficiency, precision, and affordability. The CRISPR tool uses a “guide” sequence to target DNA, employing protein “scissors”—naturally occurring proteins found in bacteria—to make necessary cuts. Minor adjustments, such as those seen in PRRS-resistant pigs, disable particular genes.

A New Norm?

Once they hit grocery store shelves, PRRS-resistant pigs are expected to become the first widely consumed gene-edited animals. However, they are not the first genetically modified products available to consumers.

Hypoallergenic “Gal Safe” Pork, designed for consumers with meat allergies, received approval in 2020. In 2022, the FDA also approved a type of cow known as Smooth cow—a breed enhanced with traits from naturally occurring genetic variants in tropical cows for shorter hair and better heat recovery. Additionally, genetically modified “Aquadvantage” Salmon is available in the US, albeit primarily sold in restaurants.

The situation is more complex across the Atlantic. As it stands, gene-edited foods cannot be marketed in the EU, and legislation for Genetic Technology (Precision Breeding) in the UK lays groundwork for breeding gene-edited crops, but it has not yet been extended to animals.

Even if regulations evolve globally, will consumers be eager to purchase gene-edited sausages and bacon?

The labeling for this new gene-edited pork remains undecided, but Dr. Katie Sanders, a communications specialist at North Carolina State University, suggests that there is greater potential for consumer acceptance compared to traditional genetically modified (GM) foods. This perception stems from the belief that gene-edited products appear more natural.

In the past, genetically modified (GM) crops stirred up fears and headlines focused on “frankenfood.” However, many of these crops were ultimately approved, with most scientists considering them safe for consumption. These GM crops often incorporate foreign genes—like “Bt” corn, which carries genes from the bacterium Bacillus thuringiensis to repel insect pests.

In contrast, the current wave of CRISPR-edited foods only features modifications that could naturally occur within the species. Scientists have not created an entirely new variety of pigs.

Sanders and her colleagues, along with associate professor Jean Parera at Texas A&M University, conducted a national survey of more than 2,000 Americans to gauge attitudes towards CRISPR-edited pork. While results await publication, Sanders notes that respondents generally indicated a likelihood to purchase CRISPR-edited pork.

This trend was especially noted in urban populations (compared to rural ones) and among those with lower educational attainment (as opposed to individuals with degrees).

In 2006, PRRS outbreaks in China affected over 2 million pigs, leading to 400,000 deaths.

When asked how producers can persuade more consumers to adopt gene-edited meat, Parrella emphasized the importance of “responsible use and ethical considerations surrounding CRISPR applications.”

Initial marketing of PRRS-resistant pigs highlights these ethical considerations, demonstrating they have been addressed. A division of the industry, known as The Pig Improvement Company—yes, that’s its actual name—underscores benefits like enhanced animal welfare, reduced antibiotic reliance, and positive environmental effects.

If their messaging resonates, could more gene-edited animals find their way to our dinner tables? Perhaps. Scientists at the Roslin Institute are currently researching edits to combat other livestock diseases, including the bovine diarrhea virus.

However, Tait-Burkard cautions that engineering resistance to specific viruses, like avian influenza, may pose more significant challenges or require edits harmful to animal cells. The proteins they edited for pig PRR resistance are “excellent targets,” but they are challenging to identify.

For traits linked to productivity, such as improved breeding and meat quality, the agricultural sector is already refining efficient breeding techniques to achieve these objectives. As such, it’s unlikely that costly gene editing will be utilized to create “super” meat anytime soon.

Nonetheless, if gene editing can enhance animal protection, minimize antibiotics, and alleviate environmental burdens, it could swiftly transition from novelty to normalcy—provided animal welfare remains uncompromised.

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Source: www.sciencefocus.com

Gene Editing Offers Hope for “Irreversible” Kidney Disease Damage Treatment

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Kidney disease can result in hypertension and infections

Mohammed Haneefa Nizamudeen/Getty Images

Recent animal research suggests that damage caused by the most prevalent hereditary kidney disease may not be as irreversible as previously thought. Researchers are using CRISPR gene editing to potentially reverse certain mutations responsible for the condition.

Polycystic kidney disease (PKD) gradually alters kidney function, leading to debilitating effects. “It was generally believed that correcting the mutations would not change the outcome,” says Michael Kaminski from Berlin University of Medicine.

PKD results in the formation of fluid-filled cysts in the kidneys and liver, leading to organ failure and necessitating dialysis or transplants. Besides organ failure, damage and swelling can lead to other severe issues, including high blood pressure and infections.

The disease typically affects adults, with approximately 12 million individuals globally estimated to be affected. Symptoms may not manifest until the cysts reach significant size in one’s 30s, by which point there may already be extensive damage to the kidneys and liver.

Kaminski’s team has utilized a CRISPR method known as base editing to correct mutations in the PKD1 gene in mice models.

This technique successfully corrected mutations primarily in the liver, resulting in a reduction in both the size and number of cysts post-treatment. Kaminski noted potential improvements in the kidneys as well.

Specifically, Xiaogang Li’s team at Mayo Clinic conducted a similar study using more precise methods targeting the kidneys, indicating a reduction in cyst size and quantity, according to Li.

Both teams employed viral vectors to deliver gene-editing tools, which poses challenges with repeated doses due to immune responses might hinder treatment. “This is a legitimate concern,” Li notes. “However, we’ve observed limited immune responses in our animal models so far.”

Utilizing lipid nanoparticles instead of viral vectors, as seen in mRNA vaccines, could mitigate immune-related issues, but Kaminski warns that these particles may struggle to penetrate deeply into the kidneys through the bloodstream. “I believe that the delivery method using [lipid nanoparticles] might become more feasible through urinary pathways,” he says.

Another limitation is that base editing primarily addresses single-character mutations, rendering it ineffective for individuals with longer mutation sequences. However, Li reports successful outcomes using a technique known as Prime editing.

These findings are poised to be published shortly in scientific journals, with plans for human trials to follow. “After our publication, I aim to organize a small clinical trial,” he states.

The broader implications of this research suggest that if PKD can indeed be reversed, it could ignite more research into this potential therapeutic avenue. Currently, the only approved treatment is tolvaptan, which only slightly slows disease progression and requires significant fluid intake.

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Source: www.newscientist.com

Pennsylvania Baby Becomes First to Receive Personalized Gene Therapy

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A baby born with rare and perilous genetic disorders has flourished thanks to an experimental gene editing treatment tailored specifically for him.

Researchers detailed the situation in a recent study, explaining that he initially received a personalized therapy aimed at rectifying a critical genetic flaw responsible for the death of half of affected infants. While wider availability of similar tailored treatments may take time, doctors remain optimistic. They believe that as genetic medicine advances, it can assist millions still facing rare conditions.

“This represents a pivotal advancement in gene editing therapy, addressing various uncommon genetic disorders that currently lack effective medical solutions,” stated Dr. Kiran Musnoor, a gene editing specialist from the University of Pennsylvania and co-author of the study recently published in the New England Journal of Medicine.

KJ Muldoon, from Clifton Heights, Pennsylvania, is among the 350 million people globally grappling with genetic issues. Shortly after birth, he was diagnosed with severe CPS1 deficiency, a condition estimated to affect about one in a million infants. These babies are unable to produce the enzymes required to eliminate ammonia from their systems, leading to toxic accumulation in the bloodstream. For some, liver transplants are a viable option.

Understanding KJ’s circumstances, his parents, Kyle and Nicole Muldoon, aged 34, were understandably anxious about the possibility of losing him.

“We evaluated all available options and posed numerous questions about potential liver transplants,”

“We prayed, consulted others, collected information, and ultimately decided this was the best path forward,” Kyle added.

In just six months, the team at Philadelphia Children’s Hospital and Penn Medicine, in collaboration with their partners, devised a treatment aimed at correcting KJ’s faulty genes. They utilized GIRSPR, a technique for which the inventor received the Nobel Prize in 2020. Rather than cutting DNA strands like earlier CRISPR methods, doctors implemented a technique that alters the “letter” (or base) of the mutated DNA, transforming it into the correct version. This approach, known as “base editing,” minimizes the chances of unintended genetic alterations.

St. Hill Boupalan, a gene therapy researcher at St. Jude Children’s Research Hospital in Memphis, who was not part of the study, remarked that it is “incredibly thrilling” how quickly the treatment was developed. “This genuinely establishes a new benchmark for this approach.”

In February, KJ received his first IV injection of the gene editing therapy, delivered through small fatty droplets called lipid nanoparticles, which are absorbed by liver cells.

The atmosphere was filled with excitement on that day, but “he slept through the entire procedure,” Dr. Rebecca Ahrens-Nicklas, a gene therapy expert at CHOP, recalled.

Following subsequent doses in March and April, KJ began eating normally and recovered well from minor illnesses, such as colds. He has been on economical medications for the past 9½ months.

Given his grim prognosis initially, “each small milestone he reaches feels monumental for us,” his mother expressed.

Nonetheless, researchers caution that only a few months have passed. They need years of observation.

“We’re still in the early stages of comprehending the effects this drug has had on KJ,” Ahrens-Nicklas stated. “However, he demonstrates signs of growth and well-being daily.”

Researchers are hopeful that KJ’s case could provide insights beneficial to patients with other rare diseases.

While developing gene therapies can be tremendously pricey, they often focus on more prevalent conditions for financial viability. A broader patient base can enhance sales, assisting in covering development costs and yielding more profit. For instance, the first CRISPR therapy approved by the US Food and Drug Administration addresses sickle cell disease, a painful blood disorder impacting millions worldwide.


KJ Muldoon with parents Kyle and Nicole Muldoon and siblings after a follow-up dose of experimental gene editing therapy in April 2025 at the hospital.
Chloe Dawson/Philadelphia Children’s Hospital via the Associated Press

Musnoor mentioned that his team’s efforts—partially funded by the National Institutes of Health—demonstrate that customizing treatments does not necessarily have to be prohibitively expensive. He indicated that costs are “not far off” from the $800,000 average for a liver transplant and associated care.

“As we continue to develop these treatments and shorten the timeframes, we anticipate economies of scale, which will drive costs down,” Musnoor noted.

Scientists also emphasized that it isn’t necessary to repeat all initial steps each time a customized therapy is created, as noted by Boupalan. This study “paves the way” for other rare condition treatments.

Carlos Mores, a neurology professor at the University of Miami who was not involved in the study, stated that such research paves the way for future advancements.

For other teams to apply insights and move forward, “breakthroughs like this can spur progress quickly,” he remarked. “Though there are challenges ahead, I predict we will overcome them in the next five to ten years, leading the entire field to advance collectively.”

Source: www.nbcnews.com

A Baby with a Rare Disease Receives the World’s First Personalized CRISPR Gene Therapy

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Baby KJ Rebecca Affles Nicklas and Kiran Musnul after gene editing injection with researchers

Philadelphia Children’s Hospital

A young boy afflicted with a serious genetic disorder is set to be the first recipient of personalized CRISPR gene editing treatments, offering a glimpse into the potential future of medicine.

This groundbreaking event marks the first instance of an individual receiving a gene editing therapy tailored to correct unique mutations contributing to their illness. Rebecca Ahrens-Nicklas explained during a press briefing held at Children’s Hospital in Philadelphia, Pennsylvania, “He is showing early signs of progress,” though she noted that it’s premature to determine the complete effectiveness of the treatment.

Researchers released information promptly, aiming to motivate others, as stated by team member Kiran Musnur at the University of Pennsylvania. “We sincerely hope that demonstrating the feasibility of personalized gene editing therapy for one patient within a few months will encourage additional efforts in this area,” he remarked.

“When I refer to this as the future of medicine, I believe I’m stating a fact,” he emphasized. “This is a crucial step towards employing gene editing therapies to address a range of rare genetic disorders that currently lack viable treatment options.”

KJ inherited mutations on both alleles of a liver enzyme gene known as CPS1. The absence of this enzyme leads to ammonia accumulating in the bloodstream, posing a risk of brain damage during the breakdown of dietary proteins. According to Ahrens-Nicklas, over half of children born with CPS1 deficiency do not survive.

She and Musnur are developing therapies targeting this condition by focusing on the liver, allowing them to rapidly formulate a basic editing therapy that modifies one of KJ’s two CPS1 gene copies.

The team engaged with US regulatory bodies early in the process. “They recognized the exceptional nature of this situation,” Musnur stated. “KJ was critically ill and time was of the essence. Following our official submission to the FDA [Food and Drug Administration] when KJ was six months old, we received approval within just a week.”

KJ underwent initial low-dose treatment at six months in February 2025, followed by higher doses in March and April. He is now able to consume more protein than before, albeit while still taking other medications for his condition.

Ideally, children should receive treatment earlier to mitigate long-term damages linked to conditions like CPS1 deficiency. As reported by New Scientist, Musnur has ambitions to enable gene editing in humans prior to birth one day.

In contrast, other gene editing therapies are designed for broader applications, aiming to work for many individuals irrespective of the specific mutations causing their condition. For instance, the first approved gene editing treatment for sickle cell disease functions by enhancing fetal hemoglobin production, rather than altering the mutations in adult hemoglobin responsible for the disorder. Despite being a “one-size-fits-all” solution, it comes at a price of £1,651,000 per treatment in the UK, as noted by Each treatment course costs £1,651,000.

KJ with his family after treatment

Philadelphia Children’s Hospital

Custom treatments can be significantly more costly. Musnur mentioned that he cannot provide exact figures for KJ’s treatment due to the extensive pro bono work by the involved companies. However, he is optimistic about a decline in costs. “As we enhance our methods, we can anticipate economies of scale, leading to a substantial reduction in prices,” he stated.

One barrier to the development of personalized gene editing therapies has been the regulatory perspective, which previously treated therapies targeting different mutations within the same gene as separate entities. This necessitated restarting the approval process for each mutation individually. However, there’s a growing movement towards a platform approach, allowing broader approvals for treatments targeting various mutations.

“Platform-based methods, like CRISPR gene editing, offer scalable solutions for even the rarest diseases, as exemplified by KJ’s case,” stated Nick Mead from Genetic Alliance UK, a charity that advocates for individuals with rare conditions. “This development finally renders treatment a plausible possibility for countless families.”

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Source: www.newscientist.com

Research Indicates Long-range Gene Regulation Evolved Over 650 Million Years Ago

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Distal regulation—the capacity to control genes across vast distances, spanning tens of thousands of DNA letters—emerged during the early stages of animal evolution, approximately 650-700 million years ago (the Kleigenian era).

Diagram of DNA molecules. Image credits: Christophe Bock, Max Planck Informatics Institute/CC BY-SA 3.0.

Distal adjustment relies on the physical folding of DNA and proteins, along with intricate loops.

This mechanism enables regions distant from a gene’s starting point to activate their functions.

This additional regulatory layer may have assisted the first multicellular organisms in developing specialized cell types and tissues without necessarily inventing new genes.

Key innovations likely originated from marine creatures or common ancestors shared by all existing animals.

Ancient organisms developed the ability to fold DNA in a controlled manner, forming 3D loops that facilitated direct contact between different segments of DNA.

“These organisms can utilize their genetic toolkit in various ways, akin to a Swiss Army knife, which allows them to fine-tune and explore innovative survival strategies,” explains Dr. Nacional Accidental Accidental Genmica, a postdoctoral researcher at the Center for Genome Regulation.

“I was surprised to find that this level of complexity dates back so far.”

Dr. Kim and his team discovered these insights by examining some of the oldest branches of the animal family tree, including species such as walnut-shaped comb jellies (Mnemiopsis leidyi), placozoans, cnidarians, and sponges.

They also investigated single-celled relatives that share a common ancestor with animals more recently.

“Studying unique sea creatures enables us to uncover much new biology,” states Professor Arnau Sebe-Pedrós, a researcher at the Center for Genome Regulation.

“Previously, we focused on comparing genomic sequences, but thanks to new techniques, we can now analyze the gene regulatory mechanisms that influence genomic function across species.”

A large individual of Mnemiopsis leidyi with two aboral ends and two apical organs. Image credit: Jokura et al., doi: 10.1016/j.cub.2024.07.084.

Researchers applied a method known as Micro-C to map the physical folding patterns in each of the 11 types of DNA analyzed. To provide context, each human cell nucleus contains approximately 2 meters of DNA.

Scientists sifted through 10 billion sequencing data points to create detailed various 3D genome maps.

Although no evidence of distal regulation was found in single-celled relatives of animals, early branches such as comb jellies, placozoans, and cnidarians exhibited numerous loops.

Over 4,000 loops were identified across the genome, particularly in the sea walnut.

This discovery is remarkable considering its genome consists of roughly 20 million DNA characters.

In contrast, the human genome contains 3.1 billion characters, with our cells housing tens of thousands of loops.

Previously, distal regulation was believed to have first emerged in the last bilateral ancestors, which appeared on Earth around 500 million years ago.

However, the comb jelly’s lineage branched off early from other animal lineages roughly 650-700 million years ago.

“The debate over whether the comb jelly predates the sponge in the tree of life has persisted in evolutionary biology, but this study suggests that distal regulation occurred at least 150 million years earlier than previously thought,” the authors concluded.

A paper detailing these findings was published today in the journal Nature.

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IV Kim et al. Chromatin loops are characteristic of the ancestors of animal regulatory genomes. Nature Published online on May 7, 2025. doi:10.1038/s41586-025-08960-W

Source: www.sci.news

A recently identified gene enhances photosynthesis and boosts plant growth

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Biologists have identified a new gene California poplar trees (Populus trichocarpa) — named booster —It can promote photosynthesis and increase the height of trees.

Transgenic hybrid poplar with increased expression levels BSTR Increased photosynthetic efficiency and biomass under greenhouse conditions. Image credit: Feissa others., doi: 10.1016/j.devcel.2024.11.002.

“Historically, much research has focused on steady-state photosynthesis, where all conditions remain constant,” the co-senior authors said. Dr. Stephen Burgessa researcher at the University of Illinois at Urbana-Champaign.

“However, this does not represent a field environment where the light is constantly changing.”

“In recent years, these dynamic processes have been thought to be more important, but they are not fully understood.”

In the new study, Dr. Burgess and his colleagues focused on poplar trees. Because poplar trees grow quickly and are great candidates for making biofuels and bioproducts.

They conducted a genome-wide association study (GWAS) by sampling approximately 1,000 trees in an outdoor research plot and analyzing their physical characteristics and genetic makeup.

The researchers used GWAS populations to search for candidate genes related to photosynthetic quenching. Photosynthetic quenching is the process that regulates how quickly plants adapt between sun and shade and dissipate excess energy from excessive sun to avoid damage.

One of the genes Booster (BSTR)was unusual because it is unique to poplar and contains sequences derived from chloroplasts, even though it is within the nuclear genome.

“We found that this gene can increase Rubisco content and subsequent photosynthetic activity, resulting in tall polar plants when grown in greenhouse conditions,” the authors said.

“In field conditions, we found that the genotypes were highly expressed. booster Up to 37% taller and more biomass per plant. ”

The researchers also booster at the model factory ArabidopsisAs a result, biomass and seed production increases.

This discovery is booster Can potentially cause yield increases in other plants.

“This is an exciting first step, but it is a small-scale experiment and there is much work to be done. If we can reproduce the results on a large scale, this gene has the potential to increase biomass production in crops.” said Dr. Burgess.

“Next steps in the research could include trials at other bioenergy and food plants, recording plant productivity under different growing conditions to analyze long-term success. .”

“We also plan to investigate other genes identified in the GWAS study that may contribute to crop improvement.”

of findings Featured in this week's diary developmental cells.

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Birk A. Feissa others. orphan gene booster Increases photosynthetic efficiency and plant productivity. developmental cellspublished online on December 3, 2024. doi: 10.1016/j.devcel.2024.11.002

Source: www.sci.news

CRISPR gene editing brings us sweeter tomatoes

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Gene editing can make larger tomato varieties sweeter

Paul Maguire/Shutterstock

If you like sweet tomatoes, smaller cherry tomato varieties are the way to go right now. But larger tomato varieties could soon be enhanced for sweetness with the help of CRISPR gene editing.

Jinzhe Zhang of the Chinese Academy of Agricultural Sciences in Beijing said the larger the tomato, the lower the sugar content usually is. Efforts to increase the sweetness of large varieties also had downsides, such as lower yields.

Zhang and colleagues compared different varieties to identify genetic variations that affect sweetness. They discovered two closely related genes called. SlCDPK27 and SlCDPK26 Larger varieties are more active. These genes code for proteins that reduce the levels of sugar-producing enzymes.

When the research team used CRISPR gene editing to disable these genes in a variety called Moneymaker, glucose and fructose levels in the fruit increased by up to 30% without any loss in yield. Taste tests also rated the fruit as sweeter. The only other effect is that the number of species that consumers are likely to prefer will be smaller and smaller.

“We are working with several companies to develop several commercial varieties by knocking out these genes,” Zhang says. “It's still in the early stages.”

In addition to increased sweetness, another potential benefit is that fewer tomatoes are needed to make tomato ketchup with the same sweetness level.

Gene-edited Money Maker tomatoes aren't as sweet as cherry varieties such as Sungold, but they could be made even sweeter, Zhang said. “Many important genes that control sugar are still waiting to be discovered.”

CRISPR-edited tomatoes, which contain high concentrations of a beneficial nutrient called GABA, are already on sale in Japan, the first CRISPR food to be sold, and are sometimes given as seedlings.

Tomatoes were also the first genetically modified food to be sold commercially. Called Flavr Savr, it was sold in paste form in the United States starting in 1994, but was later discontinued. Since last year, purple GM tomatoes rich in anthocyanins have become available in the United States in fruit and seedling form.

Several countries, including Japan and China, have regulations that make it easier to obtain approval for gene-edited crops compared to other forms of genetic modification, except for conventional breeding. approved by china Last year, the first gene-edited crop was created. Soybeans have high levels of oleic acid.

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Source: www.newscientist.com

Five children born deaf regain their hearing through gene therapy

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Gene therapy involves administering normal copies of the mutated gene that causes a particular disease.

nobeastsofierce/Shutterstock

Five Chinese children born deaf have received gene therapy that provides them with a healthy copy of a mutated gene, allowing them to hear in both ears. Although the children have varying degrees of hearing loss, all can now hear and localize sounds at conversational volume.

Six months after treatment, the five children’s hearing was about 50 to 60 percent of normal levels, team members say. Chen Yi Chen “They get confused when we whisper, but normal conversation is fine,” he said at the Massachusetts Eye and Ear Infirmary in Boston. “We’re very happy.”

In the first phase of the trial, which began in 2022, the team gave another group of six children in China the gene therapy in just one ear. Five of the six children had their hearing restored in the treated ear, with continued improvement, Chen said.

The team expects to see further progress in the second group of five children. “The progress we’re seeing now isn’t the peak,” Chen says. “We expect to see even more progress.”

The trial in China is the first of several ongoing trials around the world. She lives in the UK with her two children. There have also been reports in the United States of people regaining hearing in one ear after undergoing gene therapy.

“The tests are all pretty much the same.” Manohar Bans Doctors from Cambridge University treated two children in the UK.

All of the children in these trials were born with hearing loss because they carry a mutation in both copies of the gene for a protein called otoferin, which plays a key role in synapses, or connections, between the hair cells in the ear that detect sound and the nerves that transmit signals to the brain. The mutation affects the protein, blocking the transmission of signals.

Between 2 and 8 percent of children worldwide who are born with hearing loss are thought to have this condition, known as DFNB9.

Both parents of a child with DFNB9 have normal hearing if they each have just one mutant copy of otoferlin. These couples are often unaware that they have a one in four chance of having a child that is born deaf.

Gene therapy relies on the help of a virus called AAV to deliver a working version of the otoferlin gene to hair cells. Due to the gene’s large size, it needs to be split and put into two separate viruses.

The virus cocktail is injected into the inner ear, and the complete gene is reconstituted in cells that receive both halves. The DFNB9 trial marks the first time that so-called dual AAV gene therapy has been used to treat humans.

“This is a major technological advance,” Chen says, “and we hope that this technology will be widely used to treat other genetic diseases.”

The clinical trials will begin by treating one ear at a time because half the dose of AAV is needed, reducing the chance of adverse events, he says. No serious adverse events have been reported in any of the trials.

Chen’s team now plans to treat the other ears of the first group of children. This could be difficult because an immune response to the initial AAV injection could block gene delivery, but Chen believes it is possible.

Treating other inherited hearing loss is more difficult because some of the structures inside the ear degenerate. With DFNB9, all of the structures remain intact. “You only need to repair one element,” Chen says.

Some people believe that hearing loss is not a disease that needs treatment, Martin MacLean The position of the National Society for Deaf Children. Families should be free to make their own informed decisions.

“Parents and young people need to be aware of all the risks and, above all, understand that hearing loss in itself does not prevent people from living a happy and fulfilling life,” he says.

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Source: www.newscientist.com

The FDA Approves Pfizer’s First Gene Therapy for a Rare Inherited Bleeding Disorder

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The Food and Drug Administration approved Pfizer’s treatment of rare genetic diseases and bleeding disorders, making it the company’s first-ever gene therapy. The approval came on Friday. This groundbreaking gene therapy, named Bekvez, is for adults with moderate to severe hemophilia B, meeting specific requirements. Pfizer spokesperson mentioned that the medication will be available by prescription to eligible patients this quarter with a hefty price tag of $3.5 million, making it one of the most expensive drugs in the United States.

More than 7,000 people in the US live with hemophilia B, primarily affecting men as it causes a lack of Factor IX, a crucial protein for blood clotting. Bekvez is designed as a one-time treatment to enable patients to produce their own Factor IX to prevent and control bleeding effectively.

Pfizer’s approval for Bekvez is a major milestone in the company’s efforts to diversify its portfolio after facing challenges due to the decline in its COVID-19 business. The company has heavily invested in anti-cancer drugs and gene and cell therapies, aiming to revolutionize the treatment of chronic diseases. Pfizer also acquired the rights to manufacture and market Bekvez in collaboration with Spark Therapeutics.

In addition, Pfizer is seeking FDA approval for marstasimab, an experimental antibody to treat hemophilia A and B. The company is also developing a gene therapy for Duchenne muscular dystrophy. Bekvez will be competing with similar gene therapies like Hemogenix from CSL Behring, which also comes with a significant price tag of $3.5 million in the US, marking a new era in the treatment of hemophilia.

Despite the high costs and logistical challenges associated with gene therapies, medical experts are hopeful that these one-time treatments can replace traditional lifelong treatments for chronic diseases, offering long-term benefits to patients.

Source: www.nbcnews.com

Making plants blue through gene editing could simplify weed removal by robots

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Changing the color of crops may make it easier to distinguish between target plants and weeds

John Martin – Photography/Alamy

Common crops such as wheat and corn could be genetically modified to be brightly colored to make them easier for weeding robots to work with, researchers have suggested.

Weeding reduces the need for herbicides, but the artificial intelligence models that power weeding robots can have trouble distinguishing weeds from crops that are similar in shape and color.

To avoid this problem, Pedro Correia Researchers from the University of Copenhagen in Denmark and their colleagues have suggested that crop genomes could be adapted to express pigments such as anthocyanins, which make blueberries blue, and carotenoids, which make carrots orange.

It is also possible to grow crops with unusually shaped leaves or other traits that are invisible to the naked eye but can be detected by sensors such as those in the infrared spectrum.

Correia said AI's weeding struggles could get worse as wild species adapt to agriculture, taking advantage of their ability to cope with changing climate. This type of new domestication can produce crops that are more environmentally sustainable and higher yielding, but can also be difficult to distinguish from their unchanged ancestors.

“We're trying to change a very small number of genes to increase productivity,” Correia says. “It would be great if he could change one or two more genes to make them more recognizable and to be able to use robots to weed.”

charles fox The University of Lincoln in the UK says there is precedent for intentionally changing the color of crops. Orange carrots were not common until producers selectively bred stable varieties. But he thinks genetic modification is probably not the easiest way to improve the effectiveness of weed-killing robots.

“Other methods would probably be much easier and less controversial because people generally don't like genetic modification,” Fox says. “Sounds like a lot of effort.”

Correia says he's not suggesting creating something new or adding animal genes. The research involves modifying crop genomes to incorporate genes for pigments already produced in other plants. “We're just making some changes to the crop so they can eat it too,” he says. “We'll have to test everything and test for side effects and things like that, but I think it's quite possible.”

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Source: www.newscientist.com

Is gene therapy a viable treatment for hemophilia B?

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Hemophilia B is a blood disorder that affects about 30,000 people in the United States. Individuals with hemophilia B have a deficiency in factor IX, a protein essential for proper blood clotting. This condition is hereditary, leading to the inability to clot blood effectively.. Treatment for hemophilia B involves injecting factor IX into the veins, but this method is costly and time-consuming. Therefore, scientists are exploring alternative treatments for hemophilia B.

A team of British researchers conducted a gene therapy trial using adenovirus FLT180a to increase factor IX levels in the livers of hemophilia B patients. They administered this gene therapy to a total of 10 male patients with severe or moderate hemophilia B, aged between 25 to 67 years. The patients were given different doses of the adenovirus and monitored for 26 weeks.

The results of the trial showed that some patients reached normal factor IX levels, while others experienced dangerously high levels. Patients who received lower doses had factor IX levels ranging from 40% to 60% of normal, while those who received higher doses had levels up to 300% of normal. The researchers noted varying responses in different patients and observed side effects like unexpected bleeding.

Despite the variability in patient response, the researchers believe that gene therapy could be a potential treatment for increasing factor IX levels in hemophilia B patients and improving blood clotting. They caution about the need to monitor and manage side effects effectively and suggest that this therapy could provide benefits for up to a year before requiring further intervention.


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CRISPR gene therapy shows promise in treating severe inflammatory conditions

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New treatment cuts the gene for kallikrein, a protein involved in inflammation (illustrated)

BIOSYM TECHNOLOGIES, INC./Science Photo Library

Nine people with a rare genetic disease that causes a life-threatening inflammatory response appear to have been cured after taking part in the first trial of a new version of CRISPR-based gene therapy.

This condition, called hereditary angioedema, causes sudden swelling of tissue that affects parts of the body such as the face and throat, similar to aspects of an allergic reaction, but cannot be treated with anti-allergy drugs.

Ten people who received a one-time gene therapy administered directly into the body saw a 95 per cent reduction in the number of 'swelling attacks' in the first six months after the treatment took effect. . Since then, all but one have had no further seizures for at least a year, although one patient who received the lowest dose had one mild seizure. “This is potentially a cure,” he says Padmalal Gurugama At Cambridge University Hospital in the UK, we worked on a new approach.

Hereditary angioedema is usually caused by mutations in the gene that encodes a protein called C1 inhibitor, which is involved in suppressing inflammation, which is part of the immune response.

People with this condition may experience a sudden buildup of fluid under their skin several times a month, which is painful and can cause suffocation if it gets stuck in the throat. This attack can be caused by a virus, changes in hormone levels, or stress.

Existing drugs that can reverse attacks work by blocking another molecule involved in inflammation called kallikrein, which is made in the liver. Because people can be born without the ability to make kallikrein without adverse effects, the results suggest that it is safe to permanently block kallikrein through gene therapy, Gurgama said.

The new treatment, developed by a company called Intellia Therapeutics in Cambridge, Massachusetts, consists of genetic material designed to cut the kallikrein gene. It is encapsulated in lipid nanoparticles and taken up by liver cells. One person was treated in the UK and nine in New Zealand and the Netherlands.

An unusual feature of this therapy is that it is administered directly to humans, a method also referred to as “in vivo” delivery. “They get one infusion and that's it,” he says. julian gilmore from University College London was not involved in the study. “It's very appealing.”

So far, most other CRISPR-based gene therapies have been administered “outside the body.” This means a more complex and time-consuming procedure of taking some of a person's cells outside the body, changing the cells in a lab, and then reinjecting them.

CRISPR gene therapy is being developed for multiple genetic diseases, with the first treatments recently approved in the UK and US to help patients with two forms of genetic anemia: sickle cell disease and beta-thalassemia. Ta.

The success of the latest trial is “very exciting,” Gilmore said. Development of CRISPR-based treatments for people with various liver-related conditions, called transthyretin amyloidosis. “This technology could be applied to any disease caused by a mutant protein produced exclusively in the liver, where it is desirable to knock down that protein,” he says.

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Source: www.newscientist.com

Possible Origin of Multiple Sclerosis Gene: Protection Against Infection in Animals

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Multiple sclerosis is an autoimmune disease that occurs when the immune system starts attacking the nerves.

Katerina Conn/Science Photo Library

The largest genetic database of ancient humans to date is shedding new light on why people vary in modern conditions such as multiple sclerosis (MS) and other genetic traits such as height.

One of the findings is that the genes behind MS may have become more common because they helped people resist infections transmitted from animals.

Other findings include why Alzheimer’s disease is more common in some groups than others and why people in northern Europe tend to be taller than people in the southern part of the continent. Includes description.

“What happened thousands of years ago can have a very serious impact on the health and longevity of people living today,” he says. Evan Irving Pease at the University of Copenhagen, Denmark.

The genes of people of European and Western Asian ancestry have been shaped by three major waves of migration. Modern hunter-gatherer humans first arrived in these areas about 45,000 years ago. Then, about 11,000 years ago, a wave of farmers arrived from the Middle East, followed by a further influx of pastoralists, now called the Yamnaya, from the Eurasian steppe.

To understand how these popular movements shaped the modern medical landscape, Irving Pease's team collected bone and tooth samples from approximately 5,000 ancient sites found in museum collections across Europe and Western Asia. The oldest one is 34,000 years old.

The latest study reports on the first batch of samples analyzed based on approximately 1600 individuals. The researchers compared these people to the genetic data of 410,000 people in a huge medical dataset called the UK Biobank, and analyzed only white participants to select participants with European ancestry. did.

The research team started by focusing on MS, an autoimmune disease that occurs when the immune system begins to attack nerves, often leading to progressive disability.What previous research has found 233 genetic variants associated with increased risk of MS.

Among modern people in the UK, those at high genetic risk of multiple sclerosis are more likely to have Yamnaya ancestry, a study has shown. The research team also found that some of these MS-predisposing genetic mutations first arose in the Yamnaya tribe and became more frequent among their descendants as they spread westward through Europe.

Given that some of the 233 variants associated with MS also affect the immune system, and that the Yamnaya people have lived among animals, researchers believe that the genes behind MS are probably The researchers concluded that the species may help protect against bacteria and viruses that can be transmitted to humans. animal.The team has previously shown that Some MS risk variants are associated with partial resistance to tuberculosis.

In another paper, researchers have revealed how our ancestry influences our genetic risk for Alzheimer's disease. Modern humans are more likely to have a gene called . Apo E4If you have more ancestors from Europe's first hunter-gatherers, you have a higher risk of developing Alzheimer's disease.

Another variant of this gene is Apo E2The result is a lower risk of Alzheimer's disease, which likely occurred in the incoming Yamnaya people because it provided protection against malaria and unknown viral infections, the researchers wrote in their paper.

Variants that protect against Alzheimer's disease do not confer a reproductive advantage, so they may not have been selected by evolution to have an effect on dementia, given that dementia typically develops long after people have had children. Yes, researchers say. benjamin trumbull from Arizona State University and was not involved in any research.

“The great thing about this paper is that they go further back in time and say what was advantageous or disadvantageous at that time,” Trumbull said. “Too often we look at our modern environment and say: [a certain gene] Purely harmful. We have to consider what the selection pressures were at different points in time. ”

A further finding from the analysis is that among people living in Europe, those with more Yamnaya ancestry tend to be taller, which explains why Northern Europeans are, on average, taller than Southern Europeans. This may explain why it is so expensive.

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Source: www.newscientist.com