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?

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 ...

Rare genetic disorders affect more than 300 million people worldwide, with children making up 70% of those impacted, ... an extremely rare and progressively debilitating disease.

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 ...

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 ...