Earlier this year, researchers at Children's Hospital of Philadelphia and Penn created a first-of-its-kind drug customized to a unique genetic mutation to save an infant named Baby KJ from dying of a ...

Half of all babies diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency die within their first week of life Getty KJ Muldoon was diagnosed with severe carbamoyl phosphate ...

Marley Mansour, 11, poses for a photograph with her parents Kayla and Jonathan on Thursday, Feb. 27, 2025, in Rowlett. The 11-year-old will be the first to receive an experimental antisense ...

Within minutes of KJ Muldoon’s birth, doctors knew there was something very wrong. Five weeks premature, his little arms went rigid when lifted and shook oddly on the way back down. An attentive ...

At Mayo Clinic, cardiologists Peter Noseworthy, M.D., and John Giudicessi, M.D., Ph.D., are uncovering the earliest signs of ...

A new study has brought scientists one step further in the direction of developing a cure for a brutal group of rare brain disorders known as SYNGAP1-related disorders, or SRDs. Researchers were able ...

A few months after launching its lead gene therapy into the clinic, Arbor Biotechnologies has found a European partner to come along for the ride. Italian pharma Chiesi is fertilizing Arbor’s rare ...

Charles River Laboratories International, Inc. (NYSE: CRL) and Elly’s Team, a parent-led foundation striving to find a cure for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of ...

Calvin's diagnosis came after nearly two years of various testing Kate Todd Photography Klairissa and Mike welcomed their first baby after some pregnancy complications, but were excited to bring their ...

Earlier this year, researchers at CHOP and Penn created a first-of-its-kind drug customized to a unique genetic mutation to save an infant named Baby KJ from dying of a rare liver disorder. KJ Muldoon ...