The donation from Don and Anne Edwards aims to speed research, treatment and diagnosis for children with rare and genetic ...

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

SEATTLE — Artificial intelligence is helping tackle the overwhelming task of treating what's known as "ultra-rare" genetic conditions, many of which lack a cure. Two-year-old Jorie Kraus has such a ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...

You might have tangled hair, but chances are your hair isn't literally uncombable! And in the pantheon of rare physical ...

Rare disease research faces complex regulations, small patient populations, and high costs. As traditional incentives wane, ...