A pioneering gene therapy could help treat a rare seizure disorder called Dravet syndrome, according to new clinical trial ...

One year after receiving CRISPR gene editing therapy at CHOP, a Delaware County baby is thriving, and doctors want to expand ...

I thought the hardest part of this journey would be to find a cure and a treatment for my son,” Andrew Jedlicka told The Post ...

On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.

Hunter Syndrome is a rare genetic condition that can cause damage to the body and the brain. It often causes children to pass away in their teens, but a UNC Health ...

Researchers have found that a new base-editing gene therapy can help treat a rare neurodevelopmental disorder called Snijders Blok–Campeau syndrome caused by mutations in the CHD3 gene. A specialized ...

Mother of boy with rare disorder known to affect only 200 people told he is ‘unlikely to survive past teens’ - Frankie, now ...

The Food and Drug Administration aims to evaluate treatments for rare diseases based on plausible evidence that they would ...

The AHA has published a scientific statement regarding the screening, diagnosis, and management of hypertriglyceridemia in pediatric patients.

A groundbreaking topical gene therapy for 'butterfly skin disease' has transformed rare disease treatment. Suma Krishnan's ...

A new experimental drug is showing remarkable promise for children with Dravet syndrome, a severe genetic form of epilepsy. In clinical trials, the treatment zorevunersen cut seizures by as much as 91 ...