If administered early, gene therapy has the potential to change the medical history of children born with metachromatic leukodystrophy (MLD), a rare and lethal neurodegenerative disease of genetic ...

"Moreover, the duration of follow-up is among the longest reported for a lentiviral vector-based gene therapy; 13 patients ...

For most parents, newborn screening tests are a barely perceptible safety net. But for the small minority whose babies get ...

Gene therapy, if administered early, preserves motor and cognitive functions. Newborn screening is crucial but not yet widespread. The study is the result of 20 years of research at the San ...

RFK Jr.'s Health Department shut down an advisory group that recommends how to test newborns for genetic disorders ...

Thanks in part to federal funding for newborn hearing screening, about 98% of newborns are screened for hearing loss before ...

Advocates fear the U.S. could return to a patchwork system in which richer states provide more comprehensive screenings than ...

"If Lily had been screened at birth, we could have gone on to have treatment in six to eight weeks and prevented everything we're going through now. "To know that is devastating - I never want another ...

The committee’s termination came just weeks ahead of a meeting to discuss whether to add two new conditions: metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD). Both ...

A federal advisory committee that provides guidance on which rare diseases newborns should be screened for has been dissolved by the Trump administration, according to a letter obtained by the Boston ...