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

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

Tel Aviv University researchers say their investigation into a GRIN2D gene mutation will advance research into a protein ...

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

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

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

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

On average, it takes about five years to identify rare genetic diseases in children. And one in 10 kids are predisposed to a ...

Yoseph Williamson, a Colorado Springs teen, is living with a rare genetic disorder that causes painful tumors on his nerve ...

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 ...