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 ...

A Marion woman is celebrating a victory for those suffering from rare diseases across the state after securing a proclamation from Governor Andy Beshear declaring December 2025 as Brooke-Spiegler Synd ...

"Watching my mom die of ALS was one of the most awful things I’ve gone through. I don’t want my children to see me suffer ...

Animals that dwell at high altitudes have adapted to cope with low oxygen levels, a condition that damages a vital part of nerve cells ...

Several children in the UAE, facing developmental delays and muscle weakness underwent standard genetic tests only for the ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence (AI) tool that not only identifies disease-causing genetic mutations but also predicts the type ...

One of the symptoms of schizophrenia is difficulty incorporating new information about the world. This can lead patients to struggle with making decisions and, eventually, to lose touch with reality.

Scientists showed that a mutation in animals that live at high altitude promotes myelin regeneration, informing potential new ...

Women of Kenya’s Turkana community often walk miles each day in scorching heat to collect water for their animals and personal consumption. Credit: Julien Ayroles/UC Berkeley. F ...

An expert involved in the first successful gene therapy trial for Huntington's Disease discusses the trial results and ...

A genetic mutation tied to keeping the brain healthy at high altitudes may point to a way to repair nerve damage, experiments in mice show.

The ARX gene, which encodes a paired-type homeobox transcription factor, is crucial in forebrain development and interneuron specification. Mutations in ARX have been implicated in a spectrum of ...