A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...
Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...
UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...
A new AI model from Google DeepMind called AlphaGenome can predict how DNA mutations affect biological processes, helping pinpoint genes linked to diseases and speeding up drug discovery.
Add Yahoo as a preferred source to see more of our stories on Google. This photo provided by Emily’s Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare ...
No gene acts alone: interacting variants and protein partnerships can worsen, mask or even rescue disease risk, demanding ...
Some lucky people have rare genetic mutations that enable them to feel well-rested after just four hours of sleep, while the rest of us need around eight hours to function. Now, researchers have ...
Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the ...
Mayo Clinic researchers have developed a promising gene-editing therapy that directly corrects a genetic mutation responsible for autosomal dominant polycystic kidney disease (ADPKD), the most common ...
The disease leads to the progressive growth of fluid-filled cysts in the kidneys, often resulting in kidney failure and other ...