Latest news with #NicoleMuldoon
Gulf Today
21-05-2025
- Health
- Gulf Today
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. KJ Muldoon (centre) sits with his siblings. AP 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. KJ Muldoon sits with his parents, Kyle and Nicole Muldoon, and his siblings. AP 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. Agence France-Presse
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
The Sun
16-05-2025
- Health
- The Sun
World first as baby KJ has his ‘DNA rewritten' to wipe his deadly genetic disorder in ‘scientific miracle'
A BABY has had his DNA rewritten to treat his a deadly genetic disorder in a world first. Little KJ Muldoon, now 15 months old, was diagnosed with an ultra rare disease just days after his birth, as he became lethargic and developed breathing problems. 5 5 Tests showed that his blood ammonia levels were very high. Called CPS1 deficiency, it impaired his liver's ability to process ammonia, which can build up and cause permanent brain damage or death. If a build-up of ammonia were to be left unchecked, it could the tot at risk of death within days. "You Google 'CPS1 deficiency' and it's either fatality rate or liver transplant," the baby's mum, Nicole, said in a video released by Children's Hospital of Philadelphia (CHOP), where little KJ was treated. "We were in shock." CPS1 deficiency is "one of the most severe and rarest urea-cycle disorders", according a Paper Published in the New England Journal of Medicine, penned by scientists who oversaw KJ's groundbreaking treatment. The disease its estimated to affect one in 800,000 to one in 1,300,000 births. At the time of KJ's, the only way to treat a CPS1 deficiency was a liver transplant, which is better suited to older children who are healthier than KJ was. But Nicole said: 'He was small, but he was stubborn. The tot's dad Kyle added: 'He was a fighter from the start.' I've got a copy of the dreaded 'dementia gene' - here's the steps I've taken to reduce my risk KJ was placed on dialysis to remove the ammonia from his blood and had been living in the hospital, waiting until he was old enough to receive a liver transplant. Instead, when he was just six months old, doctors gave him a first dose of a breakthrough gene editing treatment that essentially rewrote his DNA. A team of scientists at CHOP and the University of Pennsylvania (Penn) had already been researching how to use gene editing to create customised treatments for diseases like CPS1 deficiency. Kiran Musunuru, a cardiologist, geneticist and gene editor at Penn leading the group said: 'We've been practising developing similar personalised therapies for about two years now with the idea that someday we might be in a position where we could very rapidly try to figure out how to use gene editing to correct a patient's broken gene that's responsible for their disease." 5 5 5 Rebecca Ahrens-Nicklas, a paediatric geneticist and Director of CHOP - who also lead the research - spoke about proposing the treatment to KJ's parents: 'My biggest fear in all of this was giving false hope to a family. "But we got to a point where we thought there might actually be a clinical team and drug development team that could make a drug for KJ.' After six months of work, the team of scientists created infusion just for KJ to fix the genetic mutation causing his rare disease. "The drug is really designed only for KJ, so the genetic variants that he has are specific to him. It's personalised medicine," Dr Ahrens-Nicklas said. In February 2025, KJ had a drug injected into his bloodstream which used a technology called CRISPR. It earned its creators the Nobel prize for chemistry in 2020 and amounts to using a pair of molecular scissors. What is CRISPR gene editing? CRISPR gene editing holds tremendous hope for the future of medicine because it allows scientists to edit DNA, which controls just about everything in the body. The technique is also called Crispr-Cas9. Cas9 is a naturally occurring enzyme that has the ability to cut strands of DNA like a tiny pair of scissors. In Crispr gene editing, Cas9 is packaged up and directed to a section of DNA that is believed to be faulty or diseased. DNA is the building block of everything in the body and acts like an instruction manual for the cells. If it is wrong or damaged, the consequences can be severe and even deadly. Crispr-Cas9 allows a scientist to chop out a piece of DNA they do not want in the body – and even add a new one in if they want to change something. It is still in very early stages but is believed to have the potential to prevent or cure genetic diseases, blindness or deafness, brain illnesses like Alzheimer's, and even cancer. It is also controversial because, in theory, it could be used to change the eye or hair colour of a baby before it is born – known as "designer babies" – which many believe is unethical. Nicole said: 'The way I understood gene editing was like writing a sentence on paper. "When you misspell a word, you go back in and rewrite it to spell it correctly. 'The gene editing would delete the mutated genes from his DNA and replace them with ones that worked properly.' Once the drug had travelled to the liver, the research team programmed the gene editor, CRISPR, to enter the nucleus of KJ's cells go to the site of the genetic variant that was causing the disease. The tot received the lowest possible dose of the therapy to allow his body time to adapt and minimise any risks. 'Scientific miracle' Just a few days after treatment, KJ began showing sighs of improvement He was able tolerate more protein in his diet without causing a toxic increase in ammonia and his doctors were able to slowly decrease his ammonia-lowering medication. The colour also returned to the tot's cheeks and he had a growth spurt. Over the next two months, KJ received two additional infusions of the drug, but in higher doses. He's still in CHOP being monitored by doctors and has not suffered any serious side effects of the treatment. 'We've been operating in fight-or-flight mode for so long, that now it's finally starting to look like the light at the end of the tunnel,' Nicole said. 'When I look back at the little four-pound peanut he was and now see this big, chunky, thriving baby, I'm so glad we were able to push him to show us what he could do and what he could become." Plans for a transplant have, for the moment, been scrapped. Scientists are cautious about declaring success, noting that there are still many unknowns for KJ - but they're hopeful the personalised gene editing has worked. They said they need to observe KJ for longer to fully evaluate the benefits of this therapy. But the results so far are promising for other people with genetic conditions, the medical team said. "Similar therapies could be developed for hundreds of hepatic inborn errors of metabolism," they wrote in their research paper. Dr 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," she added. Prof Gemma Marfany, professor of genetics at the University of Barcelona, who wasn't involved in the research, said: 'This is the first case of a fully customised therapy, for a single baby treated in vivo with a base-editing therapy for a very severe ultra-rare disease. 'It is truly a unique case, a successful proof of concept, designed and applied in record time, in which researchers and clinicians have not skipped a single preclinical step. "It seems to me to be a scientific 'miracle' that has made it possible to cure a very rare severe disease, and provides knowledge to treat many other diseases.'
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.
