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

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

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 ...

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

Genetic testing of IVF-created embryos could help more women over 35 have a baby in less time, a clinical trial by ...

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