Marley Mansour, 11, is tickled by mom Kayla Mansour on her bed at their home in Rowlett on Tuesday, April 29, 2025. Marley is set to make medical history as the first person in the world to receive ...

Audrey Tyrell, 13, was diagnosed with a rare genetic disorder called Usher syndrome at age 10. The teen has created a bucket ...

When 18 individuals with overlapping symptoms were left without a unifying diagnosis, Yale’s Saquib Lakhani and Lauren Jeffries joined forces with researchers around the world to discern the genetic ...

Patients with PFIC develop liver failure as a result of a buildup of a digestive fluid known as bile. When you purchase through links on our site, we may earn an affiliate commission. Here’s how it ...

Prof. Alex Nord, right and graduate student Tracy Warren have discovered genetic variants linked to some symptoms of schizophrenia that are currently hard to treat. The work could lead to new insights ...

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 ...

Tiffany Fransen, diagnosed with Friedreich's ataxia, faces challenges from this rare disease. The genetic disorder affects ...

A massive global genetics study is reshaping how we understand mental illness—and why diagnoses so often pile up. By ...