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

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, ...

An autoimmune disorder that affects the thyroid gland, called autoimmune hypothyroidism (AIHT), is the most common autoimmune disease, yet it remains largely understudied. New research from scientists ...

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

"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 ...

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.

By Rowland Illing, AWS Chief Medical Officer and Director of Global Healthcare and Nonprofits  It's one of medicine's tragic paradoxes that, collectively, ...

“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 ...

The FDA released a much-anticipated draft guidance on how makers of rare disease genetic medicines can leverage a platform ...