Gene editing has moved from theory to bedside with a speed that would have seemed impossible a decade ago. A new wave of ...

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 ...

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 recent study finds that certain psychiatric disorders have considerable genetic overlap. But these genes aren’t the whole ...

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 ...

New genetic research has identified a direct causal chain connecting the microorganisms in the human digestive tract to the ...

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 ...

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

Genetic testing can be a fearful, daunting, overwhelming, exciting, or joyful experience. In many cases, the emotions of people who pursue genetic testing can be described with more than just one of ...