From decoding the tiniest RNA malfunctions to discovering that two genetic defects can sometimes restore health, scientists are rewriting how we understand rare diseases. New research is revealing ...

Fanconi anaemia (FA) is a genetically heterogeneous disorder characterised by congenital abnormalities, progressive bone marrow failure and a high risk of malignancy. At its core lies a specialised ...

The decision, while only immediately affecting people born with a very rare form of genetic deafness, is being hailed as a milestone in the quest to treat hearing loss. When Sierra Smith gave birth to ...

The Food and Drug Administration on Thursday approved Regeneron’s Otarmeni, the first gene therapy for genetic hearing loss. Subscribe to read this story ad-free Get unlimited access to ad-free ...

The treatment, the first of its kind, was approved by the Food and Drug Administration on Thursday. “Our baby was born deaf, and now he can hear,” said one parent. By Gina Kolata The Food and Drug ...

An experimental gene therapy appears safe and highly effective for restoring hearing to people born with a rare form of deafness, researchers reported Wednesday. The study, the largest and longest to ...