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 ...

Hunter Syndrome is a rare genetic condition that can cause damage to the body and the brain. It often causes children to pass away in their teens, but a UNC Health ...

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

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

Many psychiatric disorders are more biologically related than previously understood, having more genetic similarities than differences, a new study shows. More research is needed to understand how ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

A sweeping new peer-reviewed study published in Genomic Psychiatry has introduced a concept that could reshape how psychiatrists and geneticists think about mental illness: genetic specificity.

Mila Makovec was ten in 2021 when she died from an ultra-rare neurodegenerative disorder. But, though it had not saved her, she was nevertheless in the history books as the first to receive a drug ...

Researchers have uncovered shared genetic pathways that link multiple psychiatric disorders. These new findings have the potential to change the way psychiatric disorders are diagnosed and treated, ...