A four-year-old girl from Massachusetts is recovering in the hospital after being diagnosed with a rare brain condition ...

Paul and Ashlee Higginbotham knew what was and wasn't normal for their kids. As the parents of six, they had seen a lot of illnesses and tantrums. But they were baffled by the behavior of their ...

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 ...