A newly identified gene mutation may help explain why schizophrenia patients struggle to update their understanding of ...

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 ...

Scientists have discovered a previously unknown neurodevelopmental disorder, caused by a mutation in the _RNU2-2_ gene, ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

UF scientist develops safer gene therapy restoring vision in children with rare inherited eye diseases; pivotal trials begin ...

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

A study led by Aaron Hobbs, Ph.D., and Rachel Burge, Ph.D., at MUSC Hollings Cancer Center, reveals why a specific gene mutation behaves differently from other variants. Subscribe to our newsletter ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

Vietnamese scientists are working to uncover the genetic causes of several groups of rare diseases, with newly established ...

Damaging variants in genes involved in a rapid immune response (innate immunity) are significantly linked to earlier breast ...