Researchers at the Mayo Clinic and startup Goodfire have demonstrated an AI model, Evo 2, that can predict which genetic mutations cause disease and explain the underlying biological reasons. Using AI ...

Researchers discovered a genetic mutation that could explain why some individuals thrive on as little as three hours of sleep per night. The study, published on May 5 in the journal Proceedings of the ...

Researchers have discovered that a mutation of the MDGA1 gene, a key factor modulating the connections and characteristics between nerve cells, serves as a new cause of autism spectrum disorder (ASD), ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

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 ...

As cell and gene therapy leaders gathered in Maryland to discuss accelerating clinical trials in children, one “cutting edge” ...

A study led by biomedical scientists at the University of California, Riverside School of Medicine shows how a genetic mutation associated with Crohn's disease can worsen iron deficiency and anemia - ...

In rare cases -- for instance, among siblings in two families from Pakistan and Oman described in a new study -- children have been born with an unnamed neurological disorder. Now researchers have not ...

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 ...