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 ...

Drug coverage for four drugs used to treat some rare diseases was announced in Fredericton on Wednesday under a $32-million ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces -- short reads. Scientists found ...

Rare diseases are typically due to genetic causes. These causes are more ... Upon further examination, we found that an additional 10 percent had been detected by the technique but were not ...

A common antihistamine may offer hope for patients with a rare genetic disease that can lead to severe liver damage and ...

Department of Biotechnology (DBT) – Centre for DNA Fingerprinting and Diagnostics (CDFD), in the forefront of the Mission Programme on Paediatric Rare Genetic Disorder (PRGeD), has so far ...