A newly identified gene mutation may help explain why schizophrenia patients struggle to update their understanding of reality. The mutation disrupts a brain circuit involved in flexible ...

Researchers say a new AI system can identify disease-causing mutations and explain their biological effects, potentially ...

Researchers have discovered that a mutation of the MDGA1 gene, a key factor modulating the connections and characteristics ...

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 ...

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 ...

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 ...

It’s well established that some cases of amyotrophic lateral sclerosis (ALS) are caused by mutations that are inherited from a person’s parents — but a new study shows some cases of sporadic ALS may ...

Tobacco smoking is linked to specific genetic mutations in MDS, affecting chromatin modification and RNA splicing pathways. A dose-response relationship exists, with higher smoking intensity ...

An HIV patient in Oslo has been in remission for the past five years following a stem cell transplant from his brother, who ...