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 ...

For decades, geneticists have known that most common illnesses are not caused by a single rogue gene but by intricate ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...

At the genomic level, the researchers identified over 100 regions of the genome where genetic variants influence multiple disorders simultaneously. One region on chromosome 11 stood out as a "hotspot, ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...

A new study challenges what's long been assumed about genetic variants thought to always cause inherited blindness.

Refsum disease is a rare genetic disorder involving the buildup of a type of fat in your blood and tissues called phytanic acid. This buildup can cause vision loss, hearing loss, and weakness and ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...