Jeff and Deena Leider are pushing federal officials to expand access to a treatment for their two sons' rare disease.

In PEOPLE's exclusive clip from ‘One Day in My Body,’ Portia Cina, 18, shares her experience living with ichthyosis with ...

Genetic testing revealed Owen had Opitz G syndrome, an extremely rare genetic disorder that causes midline body defects, ...

"Other children didn't want to sit next to me,' " Amit Ghose, an advocate for people with visible differences, shared ...

Two studies led by the Chahrour Lab at UT Southwestern Medical Center shed new light on genes associated with autism spectrum ...

Ahead of World Lupus Day on May 10, new research from the Garvan Institute of Medical Research and UNSW Sydney helps explain ...

Involving a collaboration with 118 investigators contributing from 89 institutions, scientists from Queen Mary University of ...

Mitochondrial disease is a rare and complex genetic disorder that affects people in different ways. There is currently no ...

Despite widespread misconceptions, eating disorders aren't a choice, they're serious, potentially life-threatening conditions. While social and environmental factors do influence someone's risk of ...

Many risk factors for cardiovascular conditions exist, including inherited factors. Now, a validation study suggests a new ...

Differences in the physical shape and wiring of the brain can directly contribute to the development of attention and social ...