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Diseases and Conditions

“A New Era of Precision Medicine: Infant with Rare Disease Receives Groundbreaking Personalized Gene Therapy Treatment”

A research team has developed and safely delivered a personalized gene editing therapy to treat an infant with a life-threatening, incurable genetic disease. The infant, who was diagnosed with the rare condition carbamoyl phosphate synthetase 1 (CPS1) deficiency shortly after birth, has responded positively to the treatment. The process, from diagnosis to treatment, took only six months and marks the first time the technology has been successfully deployed to treat a human patient. The technology used in this study was developed using a platform that could be tweaked to treat a wide range of genetic disorders and opens the possibility of creating personalized treatments in other parts of the body.

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A groundbreaking achievement in the field of medicine has been made possible by a research team supported by the National Institutes of Health (NIH). For the first time, a personalized gene editing therapy has been safely delivered to an infant with a life-threatening, incurable genetic disease. The technology used in this study was developed using a platform that could be tweaked to treat a wide range of genetic disorders.

The infant, who was diagnosed with carbamoyl phosphate synthetase 1 (CPS1) deficiency shortly after birth, has responded positively to the treatment. This condition is characterized by an inability to fully break down byproducts from protein metabolism in the liver, causing ammonia to build up to toxic levels in the body. It can cause severe damage to the brain and liver.

The process, from diagnosis to treatment, took only six months. The technology used was developed using a gene-editing platform called CRISPR. Researchers at the Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn) corrected a specific gene mutation in the baby’s liver cells that led to the disorder.

This is the first known case of a personalized CRISPR-based medicine administered to a single patient and was carefully designed to target non-reproductive cells so changes would only affect the patient. The research team saw signs that the therapy was effective almost from the start, with the infant beginning to take in more protein in their diet, and the care team could reduce the medicine needed to keep ammonia levels low in the body.

The scientists announced their work at the American Society of Gene & Cell Therapy Meeting on May 15th and described the study in The New England Journal of Medicine. Funding for this project was provided by the NIH Common Fund Somatic Cell Genome Editing program grants, U01TR005355, U19NS132301, U19NS132303, DP2CA281401, and National Heart, Lung, and Blood Institute grants R35HL145203 and P01HL142494.

In-kind contributions for the study were made by Acuitas Therapeutics, Integrated DNA Technologies, Aldevron, and Danaher Corporation. Additional funding was provided by the CHOP Research Institute’s Gene Therapy for Inherited Metabolic Disorders Frontier Program. The researchers are cautiously optimistic about the baby’s progress, but much work remains to be done.

As Dr. Joni L. Rutter, director of NIH’s National Center for Advancing Translational Sciences (NCATS), noted, “This platform promises a new era of precision medicine for hundreds of rare diseases, bringing life-changing therapies to patients when timing matters most: Early, fast, and tailored to the individual.”

Animals

Florida Cat’s Latest Catch: New Virus Discovered in Shrew

A cat named Pepper has once again helped scientists discover a new virus—this time a mysterious orthoreovirus found in a shrew. Researchers from the University of Florida, including virologist John Lednicky, identified this strain during unrelated testing and published its genome. Although once thought to be harmless, these viruses are increasingly linked to serious diseases in humans and animals. With previous discoveries also pointing to a pattern of viral emergence in wildlife, scientists stress the need for more surveillance—and Pepper remains an unlikely but reliable viral scout.

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The University of Florida’s Pepper, the pet cat who made headlines last year for discovering the first jeilongvirus found in the U.S., has done it again. This time, his keen senses have led researchers to a new strain of orthoreovirus, which is known to infect humans, white-tailed deer, bats, and other mammals.

John Lednicky, Ph.D., Pepper’s owner and a University of Florida College of Public Health and Health Professions virologist, was testing a specimen from an Everglades short-tailed shrew when he stumbled upon the new virus. The discovery came as part of his ongoing work to understand transmission of the mule deerpox virus.

Lednicky’s team published the complete genomic coding sequences for the virus they named “Gainesville shrew mammalian orthoreovirus type 3 strain UF-1” in the journal Microbiology Resource Announcements. The researchers note that while there have been rare reports of orthoreoviruses being associated with cases of encephalitis, meningitis, and gastroenteritis in children, more research is needed to understand their effects on humans.

“We need to pay attention to orthoreoviruses and know how to rapidly detect them,” Lednicky said. “There are many different mammalian orthoreoviruses, and not enough is known about this recently identified virus to be concerned.”

Pepper’s contributions to scientific discovery continue unabated. His specimen collection has led researchers to the identification of two other novel viruses found in farmed white-tailed deer, highlighting the importance of continued research into the ever-evolving world of viruses.

The discovery of new viruses is not surprising, given their propensity to constantly evolve and the sophisticated lab techniques used by researchers like Lednicky. “If you look, you’ll find,” he said. “And that’s why we keep finding all these new viruses.”

Lednicky and his team plan to conduct further research into the new virus, including serology and immunology studies to understand its potential threat to humans, wildlife, and pets.

Meanwhile, Pepper remains healthy and continues to contribute to scientific discovery through his outdoor adventures. As Lednicky said, “If you come across a dead animal, why not test it instead of just burying it? There is a lot of information that can be gained.”

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Animals

The Lemur Secret to Aging without Inflammation: A Breakthrough for Human Health?

What if humans didn’t have to suffer the slow-burning fire of chronic inflammation as we age? A surprising study on two types of lemurs found no evidence of “inflammaging,” a phenomenon long assumed to be universal among primates. These findings suggest that age-related inflammation isn’t inevitable and that environmental factors could play a far bigger role than we thought. By peering into the biology of our primate cousins, researchers are opening up new possibilities for preventing aging-related diseases in humans.

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The study of lemurs has long fascinated scientists, and a recent research breakthrough by biological anthropologist Elaine Guevara is shedding new light on the primate’s remarkable ability to age without inflammation. This phenomenon, known as “inflammaging,” is a widespread issue in humans, leading to health problems such as heart disease, strokes, diabetes, cancer, and osteoarthritis.

Guevara’s research focused on ring-tailed and sifaka lemurs, two species that differ in their life pacing and lifespan. By studying these primates, Guevara aimed to understand why they avoid the inevitability of inflammaging observed in humans. Her findings were surprising: neither species showed age-related changes in markers of oxidative stress or inflammation. In fact, ring-tailed lemurs even exhibited marginal declines in inflammation with age.

This discovery, consistent with recent studies on other non-human primates, suggests that inflamaging is not a universal feature of primates, and perhaps not even a universal feature of humans. Christine Drea, a professor of evolutionary anthropology who worked alongside Guevara, notes that this study points to differences in aging between humans and lemurs.

As we grow older, low-grade chronic inflammation sets in, causing a range of health problems. Understanding why inflamaging increases with age in humans, what causes it, and how it can be prevented is critical information for unlocking ways to help humans live longer and healthier lives. Guevara’s study serves as the first step in unraveling these questions.

The next step for Guevara and her team is to conduct similar research on lemurs in their natural habitat. This will provide valuable insights into how aging can differ between captivity and the wild, and whether inflamaging is intrinsic or environmental.

With a rapidly aging global population, these findings are essential for mitigating disability and improving quality of life in later years. Guevara’s breakthrough study offers new hope that we may be able to learn from lemurs’ remarkable ability to age without inflammation, leading to better health outcomes for humans worldwide.

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Diet and Weight Loss

Rewiring the Brain: Scientists Develop Technique to Deliver Creatine Directly to the Brain

Creatine isn’t just for gym buffs; Virginia Tech scientists are using focused ultrasound to sneak this vital energy molecule past the blood-brain barrier, hoping to reverse devastating creatine transporter deficiencies. By momentarily opening microscopic gateways, they aim to revive brain growth and function without damaging healthy tissue—an approach that could fast-track from lab benches to lifesaving treatments.

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Creatine is well-known for its role in building muscle mass, but it also plays a crucial part in energy production in cells throughout the body – including those in the brain. A research team at Virginia Tech’s Fralin Biomedical Research Institute is working on a groundbreaking technique to deliver creatine directly to the brain using focused ultrasound. This innovative approach has the potential to revolutionize the treatment of creatine deficiency disorders.

Creatine is essential for energy production in cells, and it also influences neurotransmitter systems in the brain. It interacts with phosphoric acid to create adenosine triphosphate, a molecule vital for energy production in living cells. However, a growing body of research suggests that creatine may itself function as a neurotransmitter, delivering signals between neurons.

The brain’s protective blood-brain barrier can prevent beneficial compounds like creatine from reaching the brain when levels are low. This selective shield blocks harmful substances like toxins and pathogens, but it also hinders the delivery of essential nutrients to brain tissue. The research team is using focused ultrasound to temporarily open access to the brain, allowing drugs to reach diseased tissue without harming surrounding healthy cells.

The Focused Ultrasound Foundation has recognized Virginia Tech and Children’s National Hospital as Centers of Excellence, bringing together clinical specialists, trial experts, and research scientists who can design experiments that inform future clinical trials. The early stages of the project will focus on using focused ultrasound to deliver creatine across the blood-brain barrier and restore normal brain mass in models of creatine deficiency.

This pioneering work has the potential to improve brain development, learning, memory, and seizure control in individuals with creatine deficiency disorders. With further research and development, this technique could become a game-changer for patients struggling with neurodevelopmental challenges.

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