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

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 ...

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, ...

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

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 ...

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

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.

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.