Tiffany Fransen's lifelong clumsiness turned out to be a rare neurodegenerative disease. Friedreich’s ataxia leads to muscle ...

This year saw notable progress in head and neck cancers, Huntington's disease, personalized genetic therapy, and heart ...

Less than 30% of people with certain genetic variants go blind, despite the faulty genes previously being thought to cause ...

We know that the genes we're born with contribute to the risk of psychiatric disorders during our lifetimes, and a new study ...

Mount Sinai scientists developed V2P, a powerful new AI tool that predicts how specific DNA mutations translate into disease, ...

For decades, geneticists have known that most common illnesses are not caused by a single rogue gene but by intricate ...

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 ...

Ultragenyx Pharmaceutical said on Monday that its experimental drug for a type of genetic bone disease did not meet the main goal in late-stage studies.

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

An international collective of researchers is delivering new insights into why having multiple psychiatric disorders is the norm rather than the exception. In a study published today in the journal ...

Australian scientists have identified the key genetic drivers behind long COVID, revealing why some people continue to ...