An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...

Rare diseases are genetic disorders that affect a small proportion of the population. Despite their rarity, they can be a ...

Exploring shared genes in osteoarthritis and cardiovascular disease, researchers uncover genetic connections that could reshape prevention strategies for both conditions. Study: Shared genetic factors ...

A nationwide Australian pilot screened more than 10,000 adults aged 18–40 years for high-risk genetic variants linked to ...

A team from the Faculty of Medicine and Health Sciences and the Institute of Neurosciences at the University of Barcelona ...

Huntington's disease diagnosis is confirmed with a genetic test. A clinical history and medical evaluation are used to define symptom onset. Disease staging and surveillance for complications are ...

Huntington’s disease (HD) is one of those rare conditions that affects not just the patient but the entire family—medically, emotionally and genetically. This inherited brain disorder causes gradual ...

Environmental factors such as lifestyle and the medications you take influence the effects your genes have on your body — and can clarify how diseases develop. When you purchase through links on our ...

An estimated 3 million Americans have an inflammatory bowel disease (IBD) such as Crohn's disease or ulcerative colitis. But ...

KKH reports a fivefold increase in children with familial hypercholesterolaemia, a genetic disease causing early heart ...

PKD is mainly caused by mutations in the PKD1 and PKD2 genes, affecting polycystin proteins. Disrupted signaling pathways, like cAMP and vasopressin, are major drivers of cyst growth. Tolvaptan is ...