Kayleigh and Ryan Dunn’s daughter, Lorelei, has CACNA1E ...

New rare genetic variants are linked to ALS, expanding understanding of genetic contributors. About a quarter of ALS cases have an identifiable genetic contributor. Findings support broader use of ...

Rahul Kanadia finds the universe in a minor detail. As an associate professor of physiology and neurobiology at the ...

Every few months for the past three years, Jeff Vierstra has been receiving infusions in his spine that target and disable a ...

Patients and families reveal critical gaps and opportunities in genetic testing, diagnosis, and precision medicine ...

If the internet is this obsessed with eye color, how rare are green eyes in humans? Green sits in the middle zone of pigment ...

Project MinE, an international consortium co-founded by researchers at King's College London, has identified new genetic ...

Charles and Curtshandra Duplechain’s two daughters, Jade and Ivory, have been diagnosed with Infantile Neuroaxonal Dystrophy, ...

ADHD is a neurodevelopmental disorder with a high heritability, in which the genetic component consists of thousands of genetic variants. Most variants only slightly increase the likelihood of ...

A woman is sharing her experience of living with piebaldism ...

Researchers led by the University of Vienna and Liège University Hospital Centre have identified genetic variants associated with a rare inherited growth disorder in two prehistoric individuals who ...