Woody's family are supporting NHSBT's appeal for patients with similar rare conditions to get the new NHS genetic extended ...

The two boys both have Duchenne Muscular Dystrophy, a genetic disorder that typically has children wheelchair bound by the ...

Virginia parents John and Cassie Dibble's son Jacob was born with osteogensis imperfecta, often known as brittle bone disease ...

The FDA approved Sephience - PTC's oral therapy for a rare metabolic disorder called phenylketonuria - last month, ...

Support individuals with rare chromosome disorders at Kammy’s Kause. Experience live music, a motorcycle ride, and a silent auction at this annual event.

By Sneha S K and Bageshri Banerjee (Reuters) -The U.S. Food and Drug Administration on Thursday approved Ionis ...

MMA is very rare, with an estimated global prevalence of around one in 50,000 to one in 100,000 newborns. Read more at ...