The team's findings were published in the journal Human Molecular Genetics. After years of investigating the diseases' ...

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

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

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

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 ...

Gene therapy can effectively treat various diseases, but for some debilitating conditions like muscular dystrophies there is ...

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

Large amounts of sugar can damage cells, causing chronic inflammation, which can lead to obesity, heart disease, diabetes, ...

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 ...

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

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