New research demonstrates the potential of precise genome editing technologies, called adenine base editors, to correct disease-causing mutations in stem cells from patients with X-linked chronic ...

Nemaline myopathies are a form of congenital myopathy marked by rod-like projections in muscle cells. Nemaline myopathies are ...

Sidra Medicine s Genetic and Genomic Medicine clinic is providing life altering gene therapy for rare genetic disorders. In a ...

A young boy has baffled doctors as they think he's got a genetic disorder that's so rare it can't be diagnosed. Get a free ...

Nager syndrome (NS) is an extremely rare disease that causes developmental problems and anomalies in facial bone structures and limbs. While the causative gene is known, its underlying mechanisms ...

For Lisa Hawker, getting a diagnosis of her daughter Jaydi's rare genetic condition was life-saving. Jaydi has a rare form of ...

Savara Inc. (Nasdaq: SVRA) (the Company), a clinical stage biopharmaceutical company focused on rare respiratory diseases, ...

A largescale study conducted in Devon, surrounding children with genetic disorders, found huge benefits of early diagnosis.

Here’s what to know about the irreversible eye disease at the center of the new National Geographic documentary Blink.

Colin Farrell has thanked the public for backing his charity marathon run for a friend with an agonising skin condition after ...

Residents who live in Country Lane Estates trailer park south of Calgary helping raise money for family of a 10 month old boy ...

The former prime minister said the cause is close to his heart, having lost his son Ivan to a rare genetic disease 15 years ...