Latest news with #geneticdisease
Forbes
02-06-2025
- General
- Forbes
Gene Therapy For Inherited Disease In Infants
As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat ... More inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life. Tomorrow, we will intervene before birth. For the first time, we are witnessing therapies that can fundamentally alter the course of inherited disease lifelong. The most recent breakthrough describes treating inherited disease in infants. In a case in Nature Medicine, a premature baby with a devastating genetic epilepsy syndrome achieved a 60% reduction in life-threatening seizures following treatment with an experimental therapy. This is the first installment in a two-part series describing the opportunities for correcting inherited defects before and immediately after birth. These therapies have provided a chance for those inherited diseases to be treated. Part 1 focuses on the treatment of a newborn. In contrast, Part 2 examines novel applications in the uterus as fetuses before they are born. Today, doctors can spot many genetic changes long before they cause problems. Sometimes, this is done through a noninvasive blood test from the mother during pregnancy or from a tiny drop of blood taken from a newborn's heel. These samples are analyzed using powerful genetic sequencing tools to search for signs of hundreds of inherited diseases quickly and accurately. With the help of artificial intelligence, doctors can screen for hundreds of conditions rapidly and accurately, making early detection more accessible than ever before. My new book explores how these breakthroughs are changing the lives of children and adults alike. For some families, this early detection is life-changing. In a recent case, a newborn began having seizures just days after birth. Using rapid genome sequencing to look for changes in the baby's DNA, they searched for anything that might explain the symptoms. They found a mutation in a gene known to cause a rare form of severe epilepsy. The ongoing electrical chaos caused by the mutation impairs brain development. The seizures can also cause delays or regressions in motor skills, language, and social interaction. Additionally, many suffer from sensory issues, losing the ability to track objects visually or respond to sounds. The discovery of the mutated gene allowed them to move quickly to the next step: targeted treatment. More tools than ever before are available to address the root cause when a concerning genetic change is detected. In this case, they used an innovative therapy designed to "quiet" the faulty gene, aiming to reduce the baby's seizures. In the reported case, the preterm infant receiving the therapy saw seizure frequency plummet from 20–25 hourly events to just 5–7. Current data showed that the therapy's effects waned after 4–6 weeks due to declining concentrations of the medicine, requiring repeat injections. The therapy proved safe over 20 months, and 19 treatments were performed, with no severe side effects observed. There is also strong clinical evidence of this treatment being effective in multiple animal models, though there are still challenges. Finding optimal dosing intervals for preterm infants is particularly challenging, as their rapid growth can significantly affect drug metabolism. Furthermore, frequent dosing risks overwhelming infant systems, while longer intervals may allow seizures to reappear and jeopardize developmental progress. Early trials indicate that monthly infusions might help maintain therapeutic levels. Safety is also a top priority as these therapies advance. While early trials have not reported organ toxicity or immune reactions, the long-term effects of chronic treatment with this therapy in developing brains remain uncertain. Prolonged exposure could disrupt key cognitive development processes. Still, the implications are profound. This case is more than a single success—it signals a paradigm shift. As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life. Tomorrow, we will intervene before birth. These kinds of breakthroughs are no longer a distant dream. Science and medical research are still pushing the cutting edge. Already, fetal surgeries have corrected structural defects in utero or the womb. The next leap is here: treating inherited disorders at the molecular level before a child is even born. The following story in this series will highlight the first successful use of gene therapy to treat spinal muscular atrophy before birth. The impact is profound for these children and their families. Early intervention can prevent irreversible damage, offering the potential for a normal childhood and a dramatically improved quality of life. As costs fall and technology improves, all newborns could soon have their DNA sequenced, enabling targeted treatments at the earliest and most effective stage. Over time, this approach will expand access, reduce the burden of inherited disease, and reshape the future of human health care. One profound question remains: If we correct a genetic error in a child, will that change be passed on to future generations? For now, most therapies target the body's somatic cells, not the germline—but as our tools improve, the possibility of heritable cures edges closer, raising hope and new ethical questions. As we stand at the frontier of precision neurology, cases like this illuminate a path forward. For families facing rare genetic epilepsies, this medicine offers more than seizure control. They provide a lifeline to cognitive and developmental gains previously deemed unattainable. While larger trials are needed, the era of disease-modifying therapies for pediatric brain disorders has unequivocally begun. Part 2 will delve into how correcting genetic errors before birth could rewrite the trajectory of inherited diseases.
Daily Mail
24-05-2025
- Health
- Daily Mail
Doctor issues urgent plea as sperm donor used to conceive 67 kids passes cancer-causing gene on to them - 10 now confirmed to have the disease
A doctor has issued an urgent plea after it was revealed a sperm donor used to conceive at least 67 children across Europe has passed on a rare cancer-causing mutation. Around 23 of those conceived from the donor's sperm between 2008 and 2015 have been found to carry a variant in the TP53 gene which provides instructions for making tumour proteins. And 10 of these children have already been diagnosed with cancers such as leukaemia and non-Hodgkin lymphoma. The case was described by Dr Edwige Kasper, a biologist at Rouen University Hospital in France, as an 'abnormal dissemination of genetic disease'. She urged The Guardian: 'We need to have a European limit on the number of births or families for a single donor. 'We can't do whole-genome sequencing for all sperm donors – I'm not arguing for that,' she added. 'But this is the abnormal dissemination of genetic disease. Not every man has 75 children across Europe.' The shocking revelation came to light when two separate families contacted their fertility clinics after their children were diagnosed with cancers connected to the a variant in the TP53 gene. Analysis by the European Sperm Bank which supplied the sperm confirmed that the rare variant was present in some of the donor's sperm. But they emphasised that it was not known to be linked to cancer at the time the sperm was donated in 2008 and it would not have been detected using standard screening techniques. Furthermore, the donor is thought to be in good health. The European Sperm Bank said that more than 67 children had been conceived using the donor's sperm, but that its policy does not allow them to confirm exact numbers of children for a specific donor. It said all of the relevant clinics had been alerted. Julie Paulli Budtz, a spokesperson for the European Sperm Bank, said: 'We are deeply affected by this case.' Although the donor had been thoroughly tested, she said that 'it is scientifically simply not possible to detect disease-causing mutations in a person's gene pool if you don't know what you are looking for'. She added: 'We welcome continued dialogue on setting an internationally mandated family limit, and have advocated for this on several occasions. 'This is also why we have proactively implemented our own international limit of 75 families per donor.' It is suggested that children who have the mutated TP53 gene undergo whole body and brain MRI scans. They are also advised to have regular breast and abdomen ultrasounds throughout adulthood. The case has sparked questions about the challenge of tracing the families affected and the lack of internationally agreed limits surrounding the use of a single sperm donor. Many European countries have their own limits on either the number of families that can use a donor or the number of children that can be conceived using the same donor. Current UK law allows for sperm from a single donor to be used to create a maximum of 10 families.
CNN
15-05-2025
- Health
- CNN
Gene editing helped a desperately ill baby thrive. Scientists say it could 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 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.'
Globe and Mail
15-05-2025
- Health
- Globe and Mail
Gene editing helped a desperately ill baby thrive. Scientists say it could 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 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 1/2-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.'
The Independent
15-05-2025
- Health
- The Independent
Gene editing helped a desperately ill baby thrive. Scientists say it could 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 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.' ———- The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute's Science and Educational Media Group and the Robert Wood Johnson Foundation. The AP is solely responsible for all content.
