Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...
A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...
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 ...