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 ...

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators are trying to make the process more efficient using artificial intelligence. The team ...

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 ...

You’ve likely heard people mention that they have inherited certain health conditions from their family. These are known as genetic disorders—conditions passed down from parents through DNA. In this ...

Psychiatric disorders can share common genetic influences, which means parts of DNA can be at the root of more than one mental condition, new research has found. The study, led by researchers at Texas ...

The exact cause of personality disorders is unclear. However, genetics, neurological differences, and environmental factors may contribute to the development of these complex mental health conditions.

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 ...

Slight variations in genetic composition can contribute greatly to the diversity which we see amongst individuals, from determining eye color and height to increasing the risk of developing breast ...