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 ...

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 ...

In a groundbreaking advancement in the world of transfusion medicine, researchers have identified a previously unknown and ultra-rare human blood group named CRIB. The discovery, made by a team of ...