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

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

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human ...

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 ...

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. Christian Gilissen, ...