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

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

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

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, ...

"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 ...

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.

In many countries, newborn screening programmes test babies for certain inherited conditions shortly after birth.

This color-coded graphic shows different populations of cells in the mouse brain, each one targeted by one of the genetic tools developed by scientists at the Allen Institute and other institutions.

“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 ...

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