In a Phase I/II trial, patients with X-linked chronic granulomatous disease will receive a treatment created using a new ...

Christi-Joe’s mother, Josephine Clements, says her daughter, who goes by CJ, has 22q11 Deletion Syndrome. Now considered the ...

Connor Wilson, 26, is to run the Edinburgh Marathon to raise awareness for Epilepsy Scotland after son Ollie was diagnosed ...

The European consortium for Solving the Unsolved Rare Diseases has demonstrated the significance of international ...

Gene editing technique developed in Switzerland shows promise in curing Stargardt disease, a rare genetic eye disease causing ...

Dr. Paul emphasised landmark contributions by Indian geneticists in discovering novel gene therapies for Sickle Cell Disease and small molecules for the treatment of some other rare genetic diseases.

A local 7-year-old is at the forefront of many minds in the Lewisville area, as her family and community plan a fundraiser ...

Researchers find that allergy medicine could help patients with a rare genetic disease avoid liver transplants.

Casey McPherson, Founder and CEO of Chrysalis Genetics, talks about his daughter's rare genetic condition, and how it led him to antisense oligonucleotides (ASOs) and therapeutic development for rare ...