As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children's ...

A new Nature study suggests DNA mutations in immune cells may drive autoimmune diseases by removing immune system brakes, ...

For decades, the standard explanation for autoimmune diseases like rheumatoid arthritis has rested on two pillars: inherited ...

A study by IRB Barcelona reveals that transfer RNA (tRNA) genes accumulate mutations at a frequency up to nine times higher ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, ...

Can zebrafish help find autism treatments? Scientists used pharmaco-behavioral profiling to identify FDA-approved drugs, like ...

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 ...

GRAND RAPIDS, Mich — There is a rare gene mutation linked to sudden cardiac death and heart failure called phospholamban (PLN). It may not be very common worldwide, but likely more so in West Michigan ...

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic ...

Mutations in a protein called KRAS fuel some of the most lethal cancers. Designing drugs to disable KRAS has proved challenging — but this year, a field accustomed to disappointment has renewed hope.