Geline Salac

US baby with rare illness treated with tailor-made gene edit

Article (news)

Agence France-Presse

WASHINGTON, United States - A US infant with a rare condition has become history&#x27;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.<div><iframe src="https://www.facebook.com/plugins/post.php?href=https%3A%2F%2Fwww.facebook.com%2Freel%2F1437338647677964&amp;width=500&amp;show_text=true&amp;height=282&amp;appId" width="560" height="720" style="border:none;overflow:hidden" scrolling="no" frameBorder="0" allowfullscreen=""></iframe></div>&quot;You Google &#x27;CPS1 deficiency&#x27; and it&#x27;s either fatality rate or liver transplant,&quot; the baby&#x27;s mother, Nicole Muldoon, says in a video released by Children&#x27;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&#x27;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.<div><a href="https://www.abs-cbn.com/overseas/10/06/21/duo-wins-nobel-chemistry-prize-for-work-on-catalysts">Duo wins Nobel Chemistry Prize for work on catalysts</a></div>The boy&#x27;s father said he and his wife faced an impossible decision.&quot;Our child is sick. We either have to get a liver transplant or give him this medicine that&#x27;s never been given to anybody before, right?&quot; 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.&quot;The drug is really designed only for KJ, so the genetic variants that he has are specific to him. It&#x27;s personalized medicine,&quot; 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&#x27;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.&quot;We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient&#x27;s needs,&quot; the doctor said.cha/dw/jgc© Agence France-Presse

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.

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.