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 ...

Genetic technology in medicine has evolved to the point where it is now being used to improve care and outcomes for ...

Baena, physician-scientist at the University of Antioquia's Neurosciences Group, has discovered a novel syndrome connecting ...

Study finds mosaicism in Down syndrome reduces Alzheimer's risk, providing new insights into genetic influences on cognitive ...

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

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

The genetic testing rate is lower for Black than non-Hispanic White patients with inherited retinal diseases (IRDs), ...

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.