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 ...

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

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.

Scientists have developed mouse models that survive premature death and enable preclinical testing of alternating hemiplegia ...

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

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 ...

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

With the FDA recently rejecting a drug application that aims to help those living with Barth Syndrome, one Bay Area family is ...

Last summer, Bryan and Danielle Docobo lost their 4-year-old son Ethan to Coats plus syndrome, a rare genetic disorder that affects brain function, bone density, and the gastrointestinal system. Over ...