A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...
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This 11-year-old has battled a rare disease for years — a breakthrough drug helped deliver relief
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 ...
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Single-dose base editing corrects PKD1 mutation and extends survival in ADPKD preclinical models
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 ...
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