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 ...

Scientists at Brigham and Women's Hospital and Harvard Medical School have developed a targeted genetic test to improve diagnosis for X-linked dystonia-parkinsonism (XDP), a rare and disabling ...

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 ...

SAN ANTONIO — Charli is fighting an extremely rare and terminal condition often referred to as childhood dementia at just 4-years-old. Charli qualifies for a gene therapy trial in California later ...

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 ...