Latest news with #RebeccaAhrens-Nicklas
Yahoo
20-05-2025
- Health
- Yahoo
Scientists Edited Genes Inside a Living Person for the First Time—and Saved His Life
"Hearst Magazines and Yahoo may earn commission or revenue on some items through these links." Here's what you'll learn in this story. The world's first bespoke gene therapy saved the life of a newborn with a rare genetic disorder that cause the build-up of life-threatening ammonia in the body. In a race against time, scientists and doctors across the U.S. developed the first in vivo gene therapy, thanks to decades of medical research. After three doses, the newborn patient showed drastic improvement, and this new era of in vivo gene therapies could save the lives of millions more in the future. Life's ability to successfully copy three billion distinct letters in the human genome is an absolute biological wonder—but sometimes, mistakes are made. Whether inherited or formed in utero, genetic disorders and other birth defects are common, and occur in one in every 33 babies in the U.S., according to the Centers of Disease Control and Prevention (CDC). For all of human history, a person born with such a disorder likely had to live with the condition, and depending on the defect, those lives could be brutally short. But in 2025, human history changed forever. In a groundbreaking announcement, detailed in a study published in the New England Journal of Medicine, scientists, doctors, and specialists from institutions around the U.S.—including the Children's Hospital of Philadelphia, University of California-Berkeley, and Penn Medicine—successfully saved the life of a newborn patient named KJ, who had been born with a rare genetic disorder. To pull off this incredible medical feat, doctors employed the world's first custom in vivo (i.e. inside a living organism, rather than in a petri dish) CRISPR gene therapy. This technique, developed over decades thanks to U.S.-funded medical research, could help alleviate painful lives for millions of people born every year with now-fixable genetic disorders. 'Years and years of progress in gene editing and collaboration between researchers and clinicians made this moment possible, and while KJ is just one patient, we hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' Children's Hospital of Philadelphia's Rebecca Ahrens-Nicklas, a co-author of the study, said in a press statement. The details of this incredible medical intervention play out like a made-for-tv medical drama, but the stakes were incredibly real and deadly serious. A week after his birth, doctors noticed something wasn't quite right with KJ. After ruling out a few possibilities, they stumbled across the unfortunate answer—a rare genetic disorder called severe carbamoyl phosphate synthetase 1 (CPS1) deficiency that affects only one in every 1.3 million babies. This disorder inhibits the body's ability to get rid of ammonia, a product of protein metabolism. This can have deadly consequences, impact brain development, and wreak havoc on the liver. Usually, the treatment for a disorder like this is a liver transplant, but that was not an option for the infant boy, who was still too young to be considered for the surgery. So, once arriving at a diagnosis, Ahrens-Nicklas contacted a gene-editing specialist at the University of Pennsylvania named Kiran Musunuru and 'the clock start[ed]in my mind,' he later told The New York Times. Working with a team of specialists across the country for six months, Ahrens-Nicklas and Musunuru developed a targeted gene therapy to fix KJ's specific variant of CPS1. Meanwhile, KJ was kept under medical surveillance at the hospital and subsisted on a diet completely devoid of protein to avoid making his condition worse. By the time the CRISPR treatment was ready, KJ was in the 7th percentile for his weight. On February 25, the team began administering the treatment, with Ahrens-Nicklas and Musunuru describing the process as both exciting and terrifying. 'One of the most terrifying moments was when I walked into the room and said, 'I don't know if it will work but I promise I will do everything I can to make sure it is safe,'' Ahrens-Nicklas told The New York Times. The first infusion took two hours, and within two weeks, KJ began eating protein like a healthy baby. A second dose arrived 22 days later, and about two weeks ago, KJ received a third. Although it's unknown if he will eventually still need a liver transplant, doctors can now safely say that a human life has been saved thanks to the world's first bespoke in vivo gene therapy—a huge testament to decades of a research and experimentation. KJ is now at home with his family. 'We want each and every patient to have the potential to experience the same results we saw in this first patient, and we hope that other academic investigators will replicate this method for many rare diseases and give many patients a fair shot at living a healthy life,' Musunuru said in a press statement. 'The promise of gene therapy that we've heard about for decades is coming to fruition, and it's going to utterly transform the way we approach medicine.' You Might Also Like The Do's and Don'ts of Using Painter's Tape The Best Portable BBQ Grills for Cooking Anywhere Can a Smart Watch Prolong Your Life?
Euronews
16-05-2025
- Health
- Euronews
Baby with rare disorder treated with personalised gene-editing therapy
A baby in the US is among the first people with a rare genetic disorder to be treated with CRISPR, a customised gene-editing therapy that allows scientists to edit DNA. The baby, known as KJ, was diagnosed soon after his birth with a rare disorder called severe carbamoyl-phosphate synthetase 1 deficiency (CPS1), which is estimated to affect about one in a million babies. The condition causes ammonia levels in the blood to rise, which can lead to vomiting, hypothermia, lethargy, convulsions, brain swelling, and coma. It kills about half of babies with the condition. Treatment typically involves having a low-protein diet until the child is old enough for a liver transplant, but that approach also comes with health risks. KJ began receiving personalised CRISPR treatment when he was around six months old, enabling his doctors to reduce his dependence on medication to keep his ammonia levels low, according to the case study published Thursday in The New England Journal of Medicine. 'While KJ will need to be monitored carefully for the rest of his life, our initial findings are quite promising,' said Dr Rebecca Ahrens-Nicklas, who directs the gene therapy programme at Children's Hospital of Philadelphia in the US, where the operation took place. CRISPR works by targeting specific sequences in the genome, cutting the DNA precisely at those locations, and then leveraging the cell's natural repair mechanisms to disable the harmful gene or insert a corrected version. In this case, the therapy targeted a faulty gene in KJ's liver, cutting the DNA at the exact spot where the error occurred to correct the enzyme. The procedure's success means additional patients could eventually be treated with the cutting-edge technology, researchers said. 'While KJ is just one patient, we hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' Ahrens-Nicklas said in a statement. KJ's case is a promising proof of concept, but experts cautioned that efforts to develop CRISPR therapies present several challenges. Technically, delivering a gene-editing therapy to other organs rather than the liver is much more difficult. Developing such treatment is also expensive, with the total cost of the procedure being over €700,000, though that is close to the price of a standard liver transplant, the team told the Associated Press. Though the procedure helped improve KJ's quality of life, the research team couldn't fully assess the potential side effects of the intervention for safety reasons. Dr Alena Pance, a senior lecturer in genetics at the University of Hertfordshire in the UK who was not involved with the procedure, added that most diseases are the result of diverse mutations in the genes, rather than errors that could be addressed through the precise edits made in CRISPR treatments. 'The [CRISPR] approach is applicable to any disease caused by a single nucleotide change, however more often than not, diseases are caused by a variety of variants so perhaps more general strategies could be more effective than very precise ones,' Pance said in a statement.
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First Post
16-05-2025
- Health
- First Post
Code of life rewritten: In a first, doctors treat baby with gene-edited drug
The baby, KJ, was born with severe CPS1 deficiency, a rare genetic condition that affects only one in 1.3 million people. While doctors asserted that KJ is 'thriving', he would require careful monitoring throughout his life read more Doctors and scientists in the US have done the impossible by healing a baby using customised gene-editing therapy, which involves rewriting faulty DNA. In a medical feat that has been hailed internationally, doctors from the Children's Hospital of Philadelphia and researchers from the University of Pennsylvania have proved that rare genetic disorders can potentially be treated by editing the faulty genes. What was the baby's diagnosis? The baby, KJ, was born with severe CPS1 deficiency, a rare genetic condition that affects only one in 1.3 million people. A lack of Carbamoyl phosphate synthetase 1 (CPS1), a type of protein that produces enzymes, affects the liver due to ammonia buildup, which should ideally be excreted via urine after the enzyme converts it into urea. This can affect the liver and other organs, including the brain. Although some patients with CPS1 deficiency undergo liver transplants, infants with severe forms of the disease may already have sustained damage by the time they are old enough for surgery. STORY CONTINUES BELOW THIS AD 'Years and years of progress' The one-of-a-kind treatment did not come easily. Dr Rebecca Ahrens-Nicklas, a senior physician on the team, said the breakthrough in gene rewriting was preceded by 'years and years of progress' of the technique. In the New England Journal of Medicine, the doctors detailed the meticulous process of pinpointing the exact mutations causing KJ's disorder, developing a gene-editing therapy to fix them, and testing both the treatment and the fatty nanoparticles used to deliver it to the liver. The therapy employs a cutting-edge technique known as base editing, which allows scientists to alter the DNA code one letter at a time. How is the baby doing? While doctors asserted that KJ, who received the first dose of the treatment via an infusion in February and two more doses in March and April, is 'thriving', he would require careful monitoring throughout his life. KJ spent the early months of his life in the hospital on a strict diet, but following his treatment, doctors have been able to raise the protein content in his meals and reduce the use of medication needed to eliminate nitrogen from his body. However, the medical team has added that longer follow-ups are needed to gauge the total success of the therapy. Prof Kiran Musunuru at the University of Pennsylvania said, 'The promise of gene therapy that we've heard about for decades is coming to fruition, and it's going to utterly transform the way we approach medicine.' Why does it matter? Over 30 million people in the US live with rare genetic disorders caused by DNA errors, many of which lack treatments due to commercial unviability. This case demonstrates the potential of precision gene editing to bypass traditional drug development hurdles, especially for ultra-rare diseases.
Yahoo
15-05-2025
- Health
- Yahoo
World's First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children's Hospital of Philadelphia
Landmark Study from CHOP and Penn Medicine Showcases the Power of Customized Gene Editing Therapy to Treat Patient with Rare Metabolic Disease PHILADELPHIA and NEW ORLEANS, May 15, 2025 /PRNewswire/ -- In a historic medical breakthrough, a child diagnosed with a rare genetic disorder has been successfully treated with a customized CRISPR gene editing therapy by a team at Children's Hospital of Philadelphia (CHOP) and Penn Medicine. The infant, KJ, was born with a rare metabolic disease known as severe carbamoyl phosphate synthetase 1 (CPS1) deficiency. After spending the first several months of his life in the hospital, on a very restrictive diet, KJ received the first dose of his bespoke therapy in February 2025 between six and seven months of age. The treatment was administered safely, and he is now growing well and thriving. The case is detailed today in a study published by The New England Journal of Medicine and was presented at the American Society of Gene & Cell Therapy Annual Meeting in New Orleans. This landmark finding could provide a pathway for gene editing technology to be successfully adapted to treat individuals with rare diseases for whom no medical treatments are available. "Years and years of progress in gene editing and collaboration between researchers and clinicians made this moment possible, and while KJ is just one patient, we hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs," said Rebecca Ahrens-Nicklas, MD, PhD, director of the Gene Therapy for Inherited Metabolic Disorders Frontier Program (GTIMD) at Children's Hospital of Philadelphia and an assistant professor of Pediatrics in the Perelman School of Medicine at the University of Pennsylvania. CRISPR (clustered regularly interspaced short palindromic repeats)-based gene editing can precisely correct disease-causing variants in the human genome. Gene editing tools are incredibly complex and nuanced, and up to this point, researchers have built them to target more common diseases that affect tens or hundreds of thousands of patients, such as the two diseases for which there currently are U.S. Food and Drug Administration-approved therapies, sickle cell disease and beta thalassemia. However, relatively few diseases benefit from a "one-size-fits-all" gene editing approach since so many disease-causing variants exist. Even as the field advances, many patients with rare genetic diseases – collectively impacting millions of patients worldwide – have been left behind. A Collaborative Effort Ahrens-Nicklas and Kiran Musunuru, MD, PhD, the Barry J. Gertz Professor for Translational Research in Penn's Perelman School of Medicine, who are co-corresponding authors on the published report, began collaborating to study the feasibility of creating customized gene editing therapies for individual patients in 2023, building upon many years of research into rare metabolic disorders, as well as the feasibility of gene editing to treat patients. Both are members of the NIH funded Somatic Cell Genome Editing Consortium, which supports collaborative genome editing research. Ahrens-Nicklas and Musunuru decided to focus on urea cycle disorders. During the normal breakdown of proteins in the body, ammonia is naturally produced. Typically, our bodies know to convert the ammonia to urea and then excrete that urea through urination. However, a child with a urea cycle disorder lacks an enzyme in the liver needed to convert ammonia to urea. Ammonia then builds up to a toxic level, which can cause organ damage, particularly in the brain and the liver. After years of preclinical research with similar disease-causing variants, Ahrens-Nicklas and Musunuru targeted KJ's specific variant of CPS1, identified soon after his birth. Within six months, their team designed and manufactured a base editing therapy delivered via lipid nanoparticles to the liver in order to correct KJ's faulty enzyme. In late February 2025, KJ received his first infusion of this experimental therapy, and since then, he has received follow-up doses in March and April 2025. In the newly published New England Journal of Medicine paper, the researchers, along with their academic and industry collaborators, describe the customized CRISPR gene editing therapy that was rigorously yet speedily developed for administration to KJ. As of April 2025, KJ had received three doses of the therapy with no serious side effects. In the short time since treatment, he has tolerated increased dietary protein and needed less nitrogen scavenger medication. He also has been able to recover from certain typical childhood illnesses like rhinovirus without ammonia building up in his body. Longer follow-up is needed to fully evaluate the benefits of the therapy. "While KJ will need to be monitored carefully for the rest of his life, our initial findings are quite promising," Ahrens-Nicklas said. "We want each and every patient to have the potential to experience the same results we saw in this first patient, and we hope that other academic investigators will replicate this method for many rare diseases and give many patients a fair shot at living a healthy life," Musunuru said. "The promise of gene therapy that we've heard about for decades is coming to fruition, and it's going to utterly transform the way we approach medicine." A Future for KJ Typically, patients with CPS1 deficiency, like KJ, are treated with a liver transplant. However, for patients to receive a liver transplant, they need to be medically stable and old enough to handle such a major procedure. During that time, episodes of increased ammonia can put patients at risk for ongoing, lifelong neurologic damage or even prove fatal. Because of these threats to lifelong health, the researchers knew that finding new ways to treat patients who are too young and small to receive liver transplants would be lifechanging for families whose children faced this disorder. "We would do anything for our kids, so with KJ, we wanted to figure out how we were going to support him and how we were going to get him to the point where he can do all the things a normal kid should be able to do," his mother, Nicole Muldoon, said. "We thought it was our responsibility to help our child, so when the doctors came to us with their idea, we put our trust in them in the hopes that it could help not just KJ but other families in our position." "We've been in the thick of this since KJ was born, and our whole world's been revolving around this little guy and his stay in the hospital," his father, Kyle Muldoon, said. "We're so excited to be able to finally be together at home so that KJ can be with his siblings, and we can finally take a deep breath." This study was supported by grants from the National Institutes of Health Somatic Cell Genome Editing Program (U01TR005355, U19NS132301), as well as additional National Institutes of Health grants (R35HL145203, U19NS132303, DP2CA281401, P01HL142494). In-kind contributions 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. Musunuru et al, "Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease." N Engl J Med. Online May 15, 2025. DOI: 10.1056/NEJMoa2504747. About Children's Hospital of Philadelphia: A non-profit, charitable organization, Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, the hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. The institution has a well-established history of providing advanced pediatric care close to home through its CHOP Care Network, which includes more than 50 primary care practices, specialty care and surgical centers, urgent care centers, and community hospital alliances throughout Pennsylvania and New Jersey, as well as the Middleman Family Pavilion and its dedicated pediatric emergency department in King of Prussia. In addition, its unique family-centered care and public service programs have brought Children's Hospital of Philadelphia recognition as a leading advocate for children and adolescents. For more information, visit About Penn Medicine Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, excellence in patient care, and community service. The organization consists of the University of Pennsylvania Health System (UPHS) and Penn's Raymond and Ruth Perelman School of Medicine, founded in 1765 as the nation's first medical school. The Perelman School of Medicine is consistently among the nation's top recipients of funding from the National Institutes of Health, with $580 million awarded in the 2023 fiscal year. Home to a proud history of "firsts," Penn Medicine teams have pioneered discoveries that have shaped modern medicine, including CAR T cell therapy for cancer and the Nobel Prize-winning mRNA technology used in COVID-19 vaccines. The University of Pennsylvania Health System cares for patients in facilities and their homes stretching from the Susquehanna River in Pennsylvania to the New Jersey shore. UPHS facilities include the Hospital of the University of Pennsylvania, Penn Presbyterian Medical Center, Chester County Hospital, Doylestown Health, Lancaster General Health, Princeton Health, and Pennsylvania Hospital—the nation's first hospital, chartered in 1751. Additional facilities and enterprises include Penn Medicine at Home, GSPP Rehabilitation, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others. Penn Medicine is an $11.9 billion enterprise powered by nearly 49,000 talented faculty and staff. Contact: Ben LeachChildren's Hospital of Philadelphia(609) 634-7906Leachb@ Matt ToalPerelman School of MedicinePenn View original content to download multimedia: SOURCE Children's Hospital of Philadelphia Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
