Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

For Lisa Hawker, getting a diagnosis of her daughter Jaydi's rare genetic condition was life-saving. Jaydi has a rare form of dwarfism which affects around 50 known people across the world. Her early ...

We know that the genes we're born with contribute to the risk of psychiatric disorders during our lifetimes, and a new study shows there is significantly more biological overlap across these ...

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 ...

Researchers found that preventing adolescent body dissatisfaction could reduce the population burden of psychiatric conditions.

A multinational collaboration co-led by the Garvan Institute of Medical Research, in collaboration with Rockefeller University, and Kyoto University Graduate School of Medicine, has uncovered a ...

Advances in DNA sequencing have revealed something surprising—not everyone with the same genetic change develops the same ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...