Latest news with #KyleMuldoon
Malay Mail
17-05-2025
- Health
- Malay Mail
In US, first baby treated with custom gene-editing, sparking hope for rare illnesses
WASHINGTON, May 18 — A US infant with a rare condition has become history's first patient to be treated with a personalised gene-editing technique that raises hopes for other people with obscure illnesses, doctors said Thursday. The wee pioneer is KJ Muldoon, now a nine-and-a-half-month-old boy with chubby cheeks and big blue eyes. Shortly after birth, he was diagnosed with a rare and serious condition called CPS1 deficiency. It is caused by a mutation in a gene that produces an enzyme key to liver function, and prevents people with it from eliminating certain kinds of toxic waste produced by their metabolism. 'You Google 'CPS1 deficiency' and it's either fatality rate or liver transplant,' the baby's mother, Nicole Muldoon, says in a video released by Children's Hospital of Philadelphia, where the baby was treated. With the prognosis grim, doctors suggested something that had never been done before: a personalised treatment to fix the baby's genome using what amounts to a pair of molecular scissors — the technique called Crispr-Cas9, which earned its creators the Nobel prize for chemistry in 2020. The boy's father said he and his wife faced an impossible decision. 'Our child is sick. We either have to get a liver transplant or give him this medicine that's never been given to anybody before, right?' said Kyle Muldoon. In the end, they agreed to have the child treated with an infusion created just for him to fix his genetic mutation — incorrect DNA letters in the several billion that make up the human genome. 'The drug is really designed only for KJ, so the genetic variants that he has are specific to him. It's personalised medicine,' said Rebecca Ahrens-Nicklas, a member of the medical team who specialises in paediatric genetics. Once the tailor-made infusion reaches the liver, the molecular scissors contained in it penetrates cells and goes to work editing the boy's flawed gene. The results were promising for other people with genetic conditions, said the medical team, which published their study Thursday in the New England Journal of Medicine. KJ can now follow a diet richer in proteins — his condition prohibited such before — and does not need as much medicine as he used to. But he will need to follow-up long term to monitor the safety and efficacy of the treatment, the team said. Ahrens-Nicklas said she hoped this achievement will allow the boy to get by with little or no medication some day. 'We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' the doctor said. — AFP
Sky News
16-05-2025
- Health
- Sky News
Baby gets world's first personalised gene therapy treatment
A baby born with a rare genetic disease is "growing and thriving" after getting bespoke gene therapy. It's the first time anyone in the world has been given an experimental gene-editing treatment designed specifically for their disease and took scientists just seven months to develop. Nine-and-a-half-month-old KJ Muldoon, from Clifton Heights, Pennsylvania, has a rare metabolic condition - known as severe carbamoyl phosphate synthetase 1 (CPS1) deficiency - that meant he has spent the first months of his life in a US hospital on a very restrictive diet. In February, however, the boy received the first dose of his bespoke treatment and then follow-up doses in March and April. "We prayed, we talked to people, we gathered information, and we eventually decided that this was the way we were going to go," said KJ's father Kyle Muldoon. KJ has been able to eat more normally and has recovered well from illnesses like colds, which can strain the body and exacerbate his symptoms. He also now takes fewer medications. Some experts estimate severe CPS1 deficiency affects 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. "We're still very much in the early stages of understanding what this medication may have done for KJ," said study author Dr Rebecca Ahrens-Nicklas, a gene therapy expert at the Children's Hospital of Philadelphia (CHOP). "But every day, he's showing us signs that he's growing and thriving." Considering how poorly KJ had been, "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", said his mother Nicole Muldoon. The team behind KJ's treatment, made up of experts from CHOP and the University of Pennsylvania, published the results of their work in the New England Journal of Medicine. Gene therapy Gene therapy is an innovative treatment that aims to cure disease at the source, by editing the DNA causing the problem. The scientists working on KJ's case used CRISPR, the gene editing tool that won its inventors the Nobel Prize in 2020. In KJ's case, the team found the disease-causing mutation in his genes and created the treatment to flip a "letter" in his genetic code to the correct type. "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. The scientists hope that by publishing the results of their treatment quickly, it'll help others to test out similar bespoke treatments. "Once someone comes with a breakthrough like this, it will take no time" for other teams to apply the lessons and move forward, said Carlos Moraes, a neurology professor at the University of Miami who wasn't involved in the study. "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
In world's first, doctors customise DNA to treat baby with rare liver disorder
Doctors have successfully used a customised form of gene editing to ease the symptoms of a rare and life-threatening genetic liver disorder in a baby is the first time this type of CRISPR-based technology has been used in a living human with a specific baby, identified as "KJ" by his family, was just 7 months old when he received the experimental treatment in February He was born with a severe condition called carbamoyl phosphate synthetase 1 (CPS1) deficiency, a disorder so rare it affects only one in a million 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 boy's case was reported in The New England Journal of Medicine (NEJM) and at a gene therapy GENE EDITINGKJ was treated using base editing, a more precise and safer version of the better-known CRISPR gene editing standard CRISPR, which cuts both strands of DNA, base editing changes just a single letter in the DNA sequence, which minimises the risk of any and doctors from the University of Pennsylvania and Children's Hospital of Philadelphia (CHOP) custom-designed the base editor specifically to fix the mutation in KJ's CPS1 this, they developed the entire treatment, from concept to delivery, in just six editing tool was delivered through tiny fat particles called lipid nanoparticles, which were injected into KJ's bloodstream so they could reach his liver AFTER THREE DOSESThough KJ still requires a special diet and medications to help control his condition, early signs suggest gene editing is receiving three doses of the base editor, he can now tolerate more protein in his diet and needs less medicines to control his ammonia more promising, KJ recently recovered from two viral infections without the usual dangerous spikes in ammonia that typically follow in such to the report, doctors did not perform a liver biopsy to confirm the gene correction directly, as it was considered too risky for the his improved condition is "strong indirect evidence" that the treatment has worked at least in father, Kyle Muldoon, said during a press conference, "We're very, very happy with the results."KJ is expected to go home soon, doctors A CURE, BUT A MAJOR STEP FORWARDWhile KJ isn't cured, he may need additional doses in the his cause proves that personalised gene editing for rare genetic diseases is not only possible but can be done in a matter of Kiran Musunuru of Penn Medicine, one of the lead researchers of the case, said, 'Our hope is that this will be the start of something that many others around the world will pick up on.'TAILOR-MADE GENOMEThe success of this personalised base editor adds to a growing list of gene therapy approaches for rare methods include using CRISPR-like tools to insert entire healthy genes into the genome. One such treatment recently helped another baby with a similar urea cycle disorder, allowing that child to stop medication and eat a normal these treatments are still experimental and can carry risks, such as unwanted immune responses or unintended gene edits, the scientists believe they represent the future of medicine for patients with rare and deadly genetic conditions.'This seems to be safe. And there are early signs that it's going to benefit him,' said Dr. Rebecca Ahrens-Nicklas, who helped treat historic step in gene editing could soon change how doctors treat, not just manage, genetic diseases, one patient at a time. advertisement
Al Arabiya
16-05-2025
- Health
- Al Arabiya
US baby with rare illness treated with tailor-made gene edit
A US infant with a rare condition has become history's first patient to be treated with a personalized gene-editing technique that raises hopes for other people with obscure illnesses, doctors said Thursday. The wee pioneer is KJ Muldoon, now a 9-and-a-half-month-old boy with chubby cheeks and big blue eyes. Shortly after birth, he was diagnosed with a rare and serious condition called CPS1 deficiency. It is caused by a mutation in a gene that produces an enzyme key to liver function, and prevents people with it from eliminating certain kinds of toxic waste produced by their metabolism. 'You Google 'CPS1 deficiency' and it's either fatality rate or liver transplant,' the baby's mother, Nicole Muldoon, says in a video released by Children's Hospital of Philadelphia, where the baby was treated. With the prognosis grim, doctors suggested something that had never been done before: a personalized treatment to fix the baby's genome using what amounts to a pair of molecular scissors — the technique called Crispr–Cas9, which earned its creators the Nobel Prize for Chemistry in 2020. The boy's father said he and his wife faced an impossible decision. 'Our child is sick. We either have to get a liver transplant or give him this medicine that's never been given to anybody before, right?' said Kyle Muldoon. In the end, they agreed to have the child treated with an infusion created just for him to fix his genetic mutation — incorrect DNA letters in the several billion that make up the human genome. 'The drug is really designed only for KJ, so the genetic variants that he has are specific to him. It's personalized medicine,' said Rebecca Ahrens-Nicklas, a member of the medical team who specializes in pediatric genetics. Once the tailor-made infusion reaches the liver, the molecular scissors contained in it penetrate cells and go to work editing the boy's flawed gene. The results were promising for other people with genetic conditions, said the medical team, which published their study Thursday in the New England Journal of Medicine. KJ can now follow a diet richer in proteins — his condition prohibited such before — and does not need as much medicine as he used to. But he will need long-term follow-up to monitor the safety and efficacy of the treatment, the team said. Ahrens-Nicklas said she hoped this achievement will allow the boy to get by with little or no medication someday. 'We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' the doctor said.
Japan Times
16-05-2025
- Health
- Japan Times
U.S. baby with rare illness treated with tailor-made gene edit
A U.S. infant with a rare condition has become history's first patient to be treated with a personalized gene-editing technique that raises hopes for other people with obscure illnesses, doctors said Thursday. The wee pioneer is KJ Muldoon, now a 9-and-a-half-month-old boy with chubby cheeks and big blue eyes. Shortly after birth, he was diagnosed with a rare and serious condition called CPS1 deficiency. It is caused by a mutation in a gene that produces an enzyme key to liver function, and prevents people with it from eliminating certain kinds of toxic waste produced by their metabolism. "You Google 'CPS1 deficiency' and it's either fatality rate or liver transplant," the baby's mother, Nicole Muldoon, says in a video released by Children's Hospital of Philadelphia, where the baby was treated. With the prognosis grim, doctors suggested something that had never been done before: a personalized treatment to fix the baby's genome using what amounts to a pair of molecular scissors — the technique called Crispr-Cas9, which earned its creators the Nobel prize for chemistry in 2020. The boy's father said he and his wife faced an impossible decision. "Our child is sick. We either have to get a liver transplant or give him this medicine that's never been given to anybody before, right?" said Kyle Muldoon. In the end, they agreed to have the child treated with an infusion created just for him to fix his genetic mutation — incorrect DNA letters in the several billion that make up the human genome. "The drug is really designed only for KJ, so the genetic variants that he has are specific to him. It's personalized medicine," said Rebecca Ahrens-Nicklas, a member of the medical team who specializes in pediatric genetics. Once the tailor-made infusion reaches the liver, the molecular scissors contained in it penetrates cells and goes to work editing the boy's flawed gene. The results were promising for other people with genetic conditions, said the medical team, which published their study Thursday in the New England Journal of Medicine. KJ can now follow a diet richer in proteins — his condition prohibited such before — and does not need as much medicine as he used to. But he will need to follow up long term to monitor the safety and efficacy of the treatment, the team said. Ahrens-Nicklas hopes this achievement will allow the boy to get by with little or no medication some day. "We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs," the doctor said.
