If you haven't heard of Rett syndrome, it's probably because it's very rare. Affecting an estimated one in 12,000 baby girls ...

In a new study, researchers at McMaster University have identified a potential treatment for Sandhoff and Tay-Sachs ...

Tel Aviv University researchers have made a discovery that could enhance our understanding of genetic mutations and their ...

Shared genetic factors may drive both osteoarthritis and cardiovascular disease, suggesting a common genetic basis that ...

Tel Aviv University researchers have made a remarkable discovery that could revolutionize our understanding of genetic mutations and their role in brain development.

Researchers at Stanford Medicine have developed an AI-based method to identify complex structural variants in the human ...

For all three outcomes -- dementia, stroke, and late-life depression -- the median follow-up was 12.5 years. During follow-up ...

StitchR, a new gene therapy technique, delivers large genes in two parts to treat muscular dystrophies by restoring critical proteins in animal models.

In a groundbreaking study, researchers at McMaster University have identified a potential treatment for Sandhoff and Tay-Sachs diseases—two rare, often fatal lysosomal storage disorders that cause ...

The familial trend, it turned out, was linked to a genetic mutation. That meant Bill might also be at risk for the disease.

A new multi-national study has revealed that the shape of the heart is influenced in part by genetics and may help predict ...

Researchers at Washington University have discovered a new genetic disorder affecting protein folding, offering potential new treatment avenues for rare brain conditions. When most people feeling ...