This year, gene-editing technology was customized to fix mutations in a single patient’s genes for the first time.

“Matter of Time,” a documentary featuring Pearl Jam frontman Eddie Vedder that is set to debut this summer at the Tribeca Film Festival, is being billed as much more than a concert film – it’s a ...

Expanded newborn genetic screening can diagnose hundreds of actionable conditions, allowing for earlier treatment.

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

A look into the pain and the hope of treating rare neurological diseases in children; it's a difficult, sometimes ...