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

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 ...

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

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

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

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 ...

Spinal Muscular Atrophy known as SMA is a rare genetic disease that affects 1 in 6,000 children. And, tonight, the parents of 6 month old baby Emiliano Flores are calling out for help for their son.

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

Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and ...

In a remarkable scientific breakthrough, researchers have discovered a rare autoinflammatory disease called Lyn ...