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

Researchers have uncovered shared genetic pathways that link multiple psychiatric disorders. These new findings have the potential to change the way psychiatric disorders are diagnosed and treated, ...

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

Rare genetic traits are features that are uncommon within the general population. They can lead to different observable features or to rare physical abilities. Rare genetic traits are typically ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

Advances in DNA sequencing have revealed something surprising—not everyone with the same genetic change develops the same disease, or any disease at all. Some people may develop symptoms early in life ...

Rare growth disorders are a diverse group of uncommon conditions that affect an individual’s physical development. They may stem from genetic mutations, hormonal imbalances, or other complex factors.

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health ...

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 ...

“Ultimately, we'll help the people we discriminate against if we try to understand more about them; genetics will lead to a world where there is a sympathy for the underdog.”—James D. Watson A recent ...