A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors with almost no way to intervene. Researchers have now traced that ...

A new study could help demystify a rare gastrointestinal condition that causes patients’ own bodies to produce alcohol, making them experience intoxication without drinking. Known as auto-brewery ...

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 ...

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by ...