Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

Indiana University School of Medicine scientists have uncovered new evidence that an age-related blood condition may contribute to inflammatory bowel disease (IBD). Their findings suggest that a new ...

A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

Researchers reviewed how somatic mutations accumulate in normal and diseased tissues, showing that natural selection can expand clones that influence disease risk, tissue adaptation, or cellular ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Researchers have discovered a new way to increase a key brain protein damaged in Rett syndrome, a rare genetic disorder that affects thousands of children worldwide. Early studies in mice and ...

A first-in-class gene-regulating therapy cut seizures by up to 91% in children with Dravet syndrome in extension studies, ...

A mutation in the TDP-43 protein reduces the viability of motor neurons without triggering protein clumps, researchers found.

Houston Methodist scientists have uncovered an unexpected side of a protein best known for its link to brain diseases. The ...

A Carlsbad family is sharing their son’s story after the 5-year-old was diagnosed with a rare genetic disorder and began a ...

Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms. Researchers in ...