Latest news with #RebeccaAhrensNicklas
New York Times
28-05-2025
- Health
- New York Times
Gene Editing: The Lessons of a Medical Breakthrough
To the Editor: Re 'Custom Gene-Editing Treatment Helps Baby in World's First Case' (front page, May 16): Your article highlighting the remarkable work of Dr. Rebecca Ahrens-Nicklas in developing a bespoke gene-editing therapy for KJ, a child with a rare disorder, is a powerful testament to translational research that bridges the clinic and the lab. It is no coincidence that Dr. Ahrens-Nicklas is a physician-scientist trained in both medicine and research through a program funded by the National Institutes of Health. Dr. Ahrens-Nicklas and I were classmates in the Tri-Institutional M.D.-Ph.D. Program, run jointly by Weill Cornell Medicine, Rockefeller University and Memorial Sloan Kettering Cancer Center. Our peers from this program are advancing our understanding of cancer, H.I.V.-AIDS and other illnesses, each drawing on the unique ability to connect patient care with scientific discovery. These dual-degree programs exist to train precisely the kind of visionary thinkers who can identify unmet clinical needs and then return to the lab to devise novel solutions. This is possible only when scientists understand disease at both the molecular and human level. Recent and proposed cuts to the National Institutes of Health threaten the pipeline that makes such breakthroughs possible. Without strong federal support, we risk losing a generation of physician-scientists — and with them, the kinds of lifesaving advances described in this incredible story.
Yahoo
17-05-2025
- Health
- Yahoo
Doctors Achieve Medical Breakthrough Using Gene-Editing Therapy to Heal Baby with Rare Disorder
KJ Muldoon was diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency after his birth in August 2024 Doctors were able to create a custom therapy to treat the rare condition within just six months as a result of research they began a year prior, according to a Children's Hospital of Philadelphia news release "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 Dr. Rebecca Ahrens-NicklasDoctors have successfully used gene-editing therapy to treat an infant born with a rare genetic disorder in what experts are calling a historic medical breakthrough. Following his birth in August 2024, KJ Muldoon was diagnosed with a rare metabolic disease known as severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, according to a Children's Hospital of Philadelphia news release. He had to spend the first several months of his life sick in the hospital. The condition affects one in 1.3 million babies and half of all babies diagnosed die within their first week of life. Those who survive have severe mental and developmental delays and typically require a liver transplant, per Science Direct. Luckily, KJ's parents, Nicole and Kyle Muldoon, connected with Dr. Rebecca Ahrens-Nicklas, director of the Gene Therapy for Inherited Metabolic Disorders Frontier Program (GTIMD) at Children's Hospital of Philadelphia, and Dr. Kiran Musunuru, the Barry J. Gertz Professor for Translational Research in Penn's Perelman School of Medicine. The doctors had started collaborating in 2023, working on ways to correct genetic mutations in young children with ultra-rare diseases. With their research, they were able to create a custom therapy for KJ in six months. '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,' said mom Nicole, per the news release. She added, '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.' Her son's case is detailed in a new study, published on May 15 by The New England Journal of Medicine. In February, KJ received his first dose of the experimental therapy — an infusion containing billions of microscopic gene-editors that homed in on a mutation in his liver to correct his defect. '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 Ahrens-Nicklas in the release. is now available in the Apple App Store! Download it now for the most binge-worthy celeb content, exclusive video clips, astrology updates and more! As of April 2025, KJ has received three doses with no serious side effects. Doctors said they will need to monitor him carefully for the rest of his life to see if he's cured, but his condition has improved and he's developing well. They noted that their results so far are 'quite promising.' '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,' said Musunuru, per the news release. '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.' Never miss a story — sign up for to stay up-to-date on the best of what PEOPLE has to offer, from celebrity news to compelling human interest stories. With their success, KJ's parents are now thrilled to have their son home from the hospital with his three siblings. '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,' said Kyle, per the news release. '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.' Read the original article on People
Yahoo
17-05-2025
- Health
- Yahoo
Breakthrough gene-editing treatment saves baby
When you buy through links on our articles, Future and its syndication partners may earn a commission. A team of doctors and scientists has used a tailor-made gene-editing therapy to treat an infant with a rare genetic condition, a medical first that opens the door to a new era of individualized medicine, especially for people with uncommon diseases, the researchers reported Thursday in The New England Journal of Medicine. "This is the future of medicine," said study coauthor Dr. Kiran Musunuru, a gene-editing expert at the University of Pennsylvania. KJ Muldoon was diagnosed with CPS1 deficiency, which causes toxic levels of ammonia in the blood, soon after his premature birth in Philadelphia last August. He had "perhaps as few as six months before a mounting risk of severe brain damage or death," The New York Times said. Instead, he "made medical history." KJ's diagnosis launched an "all-out six-month sprint" by a network of researchers and companies to develop a therapy, "vet its safety and use it to fix an errant gene" in his liver, The Washington Post said. They used the gene-editing tool CRISPR to create an enzyme that "flips the mutated DNA 'letter'" to the "correct type" to process ammonia, The Associated Press said. KJ got his first injection in February, then lower doses in March and April. "We're still very much in the early stages of understanding what this medication may have done for KJ," said Dr. Rebecca Ahrens-Nicklas, his doctor at Children's Hospital of Philadelphia and a study coauthor. "But every day, he's showing us signs that he's growing and thriving." He is expected to go home in a few weeks.
Gizmodo
16-05-2025
- Health
- Gizmodo
First-Ever Custom CRISPR Therapy Saves Infant With Deadly Genetic Disorder
A pivotal medical milestone has been reached. For the first time ever, researchers have used a personalized CRISPR-based gene therapy to treat an infant's rare and life-threatening illness. Doctors at the Children's Hospital of Philadelphia (CHOP) and Penn Medicine detailed their achievement in a study published Thursday in the New England Journal of Medicine. The treated child, named KJ, was born with a metabolic disorder known to kill up to 50% of children in their infancy. Now, three months after his first dose, KJ appears to have responded well to the treatment and is doing better than ever. '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, director of the Gene Therapy for Inherited Metabolic Disorders Frontier Program at CHOP, in a statement from the hospital. Soon after his birth last summer, KJ was diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency. The disorder prevents his liver from producing a key enzyme that breaks down ammonia, a common waste product, into urea (which is then flushed out in urine). Because of this, ammonia levels continue to build up, eventually causing organ damage. While rare, CPS1 can be caused by a variety of different mutations, meaning that cases often don't share the same genetic cause. Certain treatments, including a strict low-protein diet, can help keep ammonia levels down in people with CPS1, but around half of those who develop it as infants die within the first week (cases that emerge later in life have a much higher survival rate). Until now, the only curative treatment available for CPS1 was a liver transplant. But babies like KJ typically have to wait until they're old enough to survive the intensive procedure, during which time they're vulnerable to the severe complications of CPS1, including permanent brain damage. As luck would have it, though, researchers at CHOP and Penn Medicine had been trying to rapidly develop customized gene therapies for people with rare genetic diseases. And KJ seemed like the perfect test case for their emerging approach. With permission from his parents and eventually the Food and Drug Administration, the team set to work. Over the course of just six months, the researchers crafted, tested, and treated KJ with his own personalized gene-editing drug. The therapy uses a form of CRISPR—delivered to his liver cells using lipid nanoparticles—to edit a specific base (bases being the building blocks, or letters, of DNA) in the defective gene responsible for KJ's condition. The goal is to repair the defect and allow his liver to break down ammonia as usual. The therapy was first tested in mice and then monkeys. KJ was initially given a low dose of the gene therapy, codenamed k-abe, in February 2025. After he appeared to tolerate it well, he received two higher doses in March and April with no apparent serious side effects. In the months since, he's been able to ingest increasing amounts of protein and he's required lower doses of another treatment used to manage the condition. He did experience several common childhood infections during this time period, which can be life-threatening in people with CPS1, but he recovered with no major issues—another promising sign. It will take time to know whether the therapy is safe over the long term, however, or if KJ might require additional treatments. But for now, everything seems to be working just as hoped. And KJ's story is ideally only the start. The researchers believe their approach can be tweaked to treat a wide array of ultra-rare genetic diseases. If so, KJ's success might herald a new era of personalized medicine. '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,' said Kiran Musunuru, a geneticist at Penn Medicine and lead author of the NEJM paper, in a 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.'
