Latest news with #KiranMusunuru
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.
1News
16-05-2025
- Health
- 1News
Gene editing helped an ill baby thrive — may someday treat millions
A baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him. Researchers described the case in a new study, saying he's among the first to be successfully treated with a custom therapy that seeks to fix a tiny but critical error in his genetic code that kills half of affected infants. Though it may be a while before similar personalised treatments are available for others, doctors hope the technology can someday help the millions left behind even as genetic medicine has advanced because their conditions are so rare. "This is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders for which there are currently no definitive medical treatments," said Dr Kiran Musunuru, a University of Pennsylvania gene editing expert who co-authored the study published Thursday (local time) in the New England Journal of Medicine. The baby, KJ Muldoon of Clifton Heights, Pennsylvania, is one of 350 million people worldwide with rare diseases, most of which are genetic. He was diagnosed shortly after birth with severe CPS1 deficiency, estimated by some experts to affect around one in a million babies. The infants lack an enzyme needed to help remove ammonia from the body, so it can build up in their blood and become toxic. A liver transplant is an option for some. Knowing KJ's odds, parents Kyle and Nicole Muldoon, both 34, worried they could lose him. "We were, like, you know, weighing all the options, asking all the questions for either the liver transplant, which is invasive, or something that's never been done before," Nicole said. "We prayed, we talked to people, we gathered information, and we eventually decided that this was the way we were going to go," her husband added. Within six months, the team at Children's Hospital of Philadelphia and Penn Medicine, along with their partners, created a therapy designed to correct KJ's faulty gene. They used CRISPR, the gene editing tool that won its inventors the Nobel Prize in 2020. Instead of cutting the DNA strand like the first CRISPR approaches, doctors employed a technique that flips the mutated DNA "letter" — also known as a base — to the correct type. Known as "base editing," it reduces the risk of unintended genetic changes. It's "very exciting" that the team created the therapy so quickly, said gene therapy researcher Senthil Bhoopalan at St Jude Children's Research Hospital in Memphis, who wasn't involved in the study. "This really sets the pace and the benchmark for such approaches." In February, KJ got his first IV infusion with the gene editing therapy, delivered through tiny fatty droplets called lipid nanoparticles that are taken up by liver cells. While the room was abuzz with excitement that day, "he slept through the entire thing," recalled study author Dr Rebecca Ahrens-Nicklas, a gene therapy expert at CHOP. After follow-up doses in March and April, KJ has been able to eat more normally and has recovered well from illnesses like colds, which can strain the body and exacerbate symptoms of CPS1. Considering his poor prognosis earlier, "any time we see even the smallest milestone that he's meeting – like a little wave or rolling over – that's a big moment for us," his mother said. Still, researchers caution that it's only been a few months. They'll need to watch him for years. "We're still very much in the early stages of understanding what this medication may have done for KJ," Ahrens-Nicklas said. "But every day, he's showing us signs that he's growing and thriving." Researchers hope what they learn from KJ will help other rare disease patients. Gene therapies, which can be extremely expensive to develop, generally target more common disorders in part for simple financial reasons: more patients mean potentially more sales, which can help pay the development costs and generate more profit. The first CRISPR therapy approved by the US Food and Drug Administration, for example, treats sickle cell disease, a painful blood disorder affecting millions worldwide. Musunuru said his team's work — funded in part by the National Institutes of Health — showed that creating a custom treatment doesn't have to be prohibitively expensive. The cost was "not far off" from the US$800,000-plus (NZ$1.3 million) for an average liver transplant and related care, he said. "As we get better and better at making these therapies and shorten the time frame even more, economies of scale will kick in and I would expect the costs to come down," Musunuru said. Scientists also won't have to redo all the initial work every time they create a customised therapy, Bhoopalan said, so this research "sets the stage" for treating other rare conditions. Carlos Moraes, a neurology professor at the University of Miami who wasn't involved with the study, said research like this opens the door to more advances. "Once someone comes with a breakthrough like this, it will take no time" for other teams to apply the lessons and move forward, he said. "There are barriers, but I predict that they are going to be crossed in the next five to 10 years. Then the whole field will move as a block because we're pretty much ready."
India Today
16-05-2025
- Health
- India Today
Baby healed in world's first gene-editing therapy; Indian-origin doctor plays key role
A nine-month-old baby boy, who was born with a rare and life-threatening genetic disease, was successfully treated with an customised gene-editing treatment made just for him. Indian-origin cardiologist Kiran Musunuru was in the team of doctors who became the first to treat the baby using the customised gene-editing therapy. The baby was diagnosed with a severe genetic disorder that typically proves fatal for about half of affected infants in early nine-month-old baby, identified as KJ, was born with severe CPS1 deficiency -- a condition that affects only one in 1.3 million people -- was treated by Rebecca Ahrens-Nicklas, a senior physician, and doctor Kiran doctors at the Children's Hospital of Philadelphia and the University of Pennsylvania began work immediately after the boy's diagnosis, completing the complex design, manufacturing, and safety testing of the personalised therapy within six months. The baby was just seven months old when he received the experimental treatment in February was born with a severe condition called carbamoyl phosphate synthetase 1 (CPS1) deficiency, a disorder so rare it affects only one in a million births. The disease is caused by a faulty gene in the liver, leading to dangerous build-ups of ammonia in the blood, which can cause brain damage, coma, or even death if not managed Kiran Musunuru used the CRISPR base editing technique, which meant he carefully changed one tiny part of the baby's DNA without cutting it, to fix the gene causing the IS DOCTOR KIRAN MUSUNURU?Kiran Musunuru is a heart disease expert and Associate Professor of Cardiovascular Medicine and Genetics in the Perelman School of Medicine at the University of Pennsylvania. He is a principal expert in genetic research and was born to Indian immigrant parents who settled in the US. His father, Dr Rao Musunuru, is also a renowned cardiologist who moved from Andhra Pradesh and built a distinguished medical career in the United Kiran graduated in Biochemical Sciences from Harvard College in he completed a PhD in Biomedical Sciences at Rockefeller University in 2003, followed by a medical degree from Weill Cornell Medical College in addition to his medical and scientific training, the 48-year-old doctor has pursued extensive interdisciplinary education to support his work at the intersection of science, public health, and earned an MPH in Epidemiology from the Johns Hopkins Bloomberg School of Public Health in 2009, followed by an ML in Law from the University of Pennsylvania Law School in recently, in 2024, he completed an MRA in Regulatory Affairs from the Perelman School of Medicine at the University of research focusses on the genetics of heart disease and seeks to identify genetic factors that protect against disease and use them to develop therapies to protect the entire population, according to Dr Kiran's his recent work, he has been using gene editing to create a one-shot "vaccination" against heart AND AWARDS FOR GROUNDBREAKING WORKKiran Musunuru has received numerous prestigious honours in recognition of his groundbreaking contributions to science and them is the Presidential Early Career Award for Scientists and Engineers, presented to him at the White House by former US President Barack Obama—one of the highest honours given by the US government to early-career accolades also include the American Heart Association's Award of Meritorious Achievement, the American Philosophical Society's Judson Daland Prize for Outstanding Achievement in Clinical Investigation, the American Federation for Medical Research's Outstanding Investigator Award, and Harvard University's Fannie Cox Prize for Excellence in Science addition to his research and teaching roles, Musunuru recently served as Editor-in-Chief of Circulation: Genomic and Precision Medicine, a leading peer-reviewed journal in the field, reflecting his leadership in advancing precision medicine and cardiovascular genetics. advertisement
Yahoo
16-05-2025
- Health
- Yahoo
Gene editing helped a desperately ill baby thrive and scientists say it could someday treat millions
AP (WDHN) – A baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him. Researchers described the case in a new study, saying he's among the first to be successfully treated with a custom therapy that seeks to fix a tiny but critical error in his genetic code that kills half of affected infants. Though it may be a while before similar personalized treatments are available for others, doctors hope the technology can someday help the millions left behind even as genetic medicine has advanced because their conditions are so rare. 'This is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders for which there are currently no definitive medical treatments,' said Dr. Kiran Musunuru, a University of Pennsylvania gene editing expert who co-authored the study published Thursday in the New England Journal of Medicine. The baby, KJ Muldoon of Clifton Heights, Pennsylvania, is one of 350 million people worldwide with rare diseases, most of which are genetic. He was diagnosed shortly after birth with severe CPS1 deficiency, estimated by some experts to affect around one in a million babies. Those infants lack an enzyme needed to help remove ammonia from the body, so it can build up in their blood and become toxic. A liver transplant is an option for some. Knowing KJ's odds, parents Kyle and Nicole Muldoon, both 34, worried they could lose him. 'We were, like, you know, weighing all the options, asking all the questions for either the liver transplant, which is invasive, or something that's never been done before,' Nicole said. 'We prayed, we talked to people, we gathered information, and we eventually decided that this was the way we were going to go,' her husband added. Within six months, the team at Children's Hospital of Philadelphia and Penn Medicine, along with their partners, created a therapy designed to correct KJ's faulty gene. They used CRISPR, the gene editing tool that won its inventors the Nobel Prize in 2020. Instead of cutting the DNA strand like the first CRISPR approaches, doctors employed a technique that flips the mutated DNA 'letter' — also known as a base — to the correct type. Known as 'base editing,' it reduces the risk of unintended genetic changes. It's 'very exciting' that the team created the therapy so quickly, said gene therapy researcher Senthil Bhoopalan at St. Jude Children's Research Hospital in Memphis, who wasn't involved in the study. 'This really sets the pace and the benchmark for such approaches.' In February, KJ got his first IV infusion with the gene editing therapy, delivered through tiny fatty droplets called lipid nanoparticles that are taken up by liver cells. While the room was abuzz with excitement that day, 'he slept through the entire thing,' recalled study author Dr. Rebecca Ahrens-Nicklas, a gene therapy expert at CHOP. After follow-up doses in March and April, KJ has been able to eat more normally and has recovered well from illnesses like colds, which can strain the body and exacerbate symptoms of CPS1. The 9 ½-month old also takes less medication. Considering his poor prognosis earlier, 'any time we see even the smallest milestone that he's meeting – like a little wave or rolling over – that's a big moment for us,' his mother said. Still, researchers caution that it's only been a few months. They'll need to watch him for years. 'We're still very much in the early stages of understanding what this medication may have done for KJ,' Ahrens-Nicklas said. 'But every day, he's showing us signs that he's growing and thriving.' Researchers hope what they learn from KJ will help other rare disease patients. Gene therapies, which can be extremely expensive to develop, generally target more common disorders in part for simple financial reasons: more patients mean potentially more sales, which can help pay the development costs and generate more profit. The first CRISPR therapy approved by the U.S. Food and Drug Administration, for example, treats sickle cell disease, a painful blood disorder affecting millions worldwide. Musunuru said his team's work — funded in part by the National Institutes of Health — showed that creating a custom treatment doesn't have to be prohibitively expensive. The cost was 'not far off' from the $800,000-plus for an average liver transplant and related care, he said. 'As we get better and better at making these therapies and shorten the time frame even more, economies of scale will kick in and I would expect the costs to come down,' Musunuru said. Scientists also won't have to redo all the initial work every time they create a customized therapy, Bhoopalan said, so this research 'sets the stage' for treating other rare conditions. Carlos Moraes, a neurology professor at the University of Miami who wasn't involved with the study, said research like this opens the door to more advances. 'Once someone comes with a breakthrough like this, it will take no time' for other teams to apply the lessons and move forward, he said. 'There are barriers, but I predict that they are going to be crossed in the next five to 10 years. Then the whole field will move as a block because we're pretty much ready.' Copyright 2025 Nexstar Media, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.
