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 ...

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 ...

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 ...

Dr Sudheendra Rao N R from the Organization for Rare Diseases India reveals that approximately 70 million are affected by ...