Researchers say a new AI system can identify disease-causing mutations and explain their biological effects, potentially ...

When a child’s symptoms stump one specialist after another for years on end, families describe the experience as grueling and ...

Lauren MacLaren said her son 'Mack' was diagnosed in the womb with the rare genetic disorder Male-Specific Lethal 2 (MSL2).

UAB is leading a national study examining how personalized genetic risk information can improve prevention of chronic ...

Quarterly RNA drug plozasiran turns off a liver gene, sharply lowering life‑threatening pancreatitis attacks in a rare ...

The way you live your life doesn't always give you heart disease. Some people are more likely to develop it at a younger age because it can be inherited. This is where you can test your genes. It can ...

Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by intellectual disability, global developmental delay, and frequent seizures. The ...

Forbes contributors publish independent expert analyses and insights. Recent breakthroughs in genetics research may have uncovered new genes underlying common psychiatric disorders. Schizophrenia and ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

With a new $6.2 million, five-year grant from the National Institute on Aging, researchers at Case Western Reserve University will use artificial intelligence (AI) and machine learning to identify ...

Investigators led by Northwestern Medicine scientists have identified mutations in a gene coding for a key ion channel in the ...

Despite widespread misconceptions, eating disorders aren't a choice, they're serious, potentially life-threatening conditions. While social and environmental factors do influence someone's risk of ...