Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...

A teenager who lived in southern Europe around 12,000 years ago has become the earliest person in history to receive a ...

AMD is one of the rarest documented genetic disorders. Only around 10 million people in the world carry the altered NPR2 gene ...

Hackathons using AlphaGenome and other AI models are hunting down the genetic causes of devastating conditions that have ...

The tool helps scientists understand how single-letter mutations and distant DNA regions influence gene activity, shaping ...

Two of Opus's seven gene therapy assets are in clinical trials, with additional programs expected to enter the clinic.

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...

Rare genetic traits are features that are uncommon within the general population. They can lead to different observable features or to rare physical abilities. Rare genetic traits are typically ...

This Rare Disease Day, observed on Feb. 28 worldwide, the American Kidney Fund is committed to improving the understanding of rare kidney diseases by providing educational resources.

Is Obesity Genetic or Environmental? Get All the Details This article was reviewed by Lynn Marie Morski, MD, JD. Key ...

Personalized medicine is gaining momentum today, allowing a person’s genetic makeup to help guide clinical decisions that are ...