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

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

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 ...

— The genetic roots of a disease or disorder do not always grow into clear cut, easily diagnosed clinical features. Even if a parent and child have the same genetic marker implicated in an outcome, ...

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.

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

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 ...