A 6-year-old girl is one of more than 80 people worldwide who has finally received a diagnosis of a new condition following ...

A newly developed AI tool can dramatically speed up the search for the genetic causes of rare diseases, a process that often ...

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most ...

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most ...

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 ...

Researchers have been trying to solve the mystery of a rare genetic disorder called spinocerebellar ataxia 4 (SCA4) for many years. The disease causes impairments in movement and balance, and these ...

Are you mostly a product of the genes you inherit or your experiences in life? This question intrigues many people, including addiction researchers. In this post, I provide an overview of key research ...

A massive genetic analysis of more than 6 million people is revealing new clues about why mental health disorders frequently overlap.

A new study by UCLA Health published in Cell presents a major advancement in the future of personalized medicine by pinpointing new connections between people's genes, disease risk and medicine ...

Researchers analyze 2.2 million genomes to show that addiction risk is primarily driven by broad genes affecting brain wiring ...