Researchers at the Gray Faculty of Medical and Health Sciences at Tel Aviv University have developed a model that accurately ...

Patients with rare diseases are increasingly working to find and fund their own cures. But should they have to?

Charlie Health reports that eating disorders are significantly influenced by genetics, with family history increasing risk ...

The genetic disease harlequin ichthyosis affects the transport of fats within the skin, resulting in hard, scalelike plaques ...

Scientists at The Jackson Laboratory (JAX) have developed mouse models that survive premature death and enable pre-clinical ...

Colin Farrell opened up to PEOPLE about his son James, who was diagnosed with Angelman syndrome. Here’s what to know about the rare neurogenetic disorder that affects 1 in 15,000 people.

A deep-learning model trained on human data reveals that promoter mutations may explain a significant portion of unsolved ...

Prof. Moran Hausman-Kedem, a pediatric neurologist involved in the research, emphasized the clinical value of the model: “For rare diseases where patient populations are too small for large-scale ...

A Yukon couple searches for support as their baby receives a rare central hypoventilation syndrome diagnosis, a condition ...

Two Navajo mothers shared their children’s experience battling rare genetic diseases during the “Voices of the Diné: Bridging ...

Five families with children who have the newly discovered rare condition recently gathered in a Washington, D.C., park.