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

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

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 ...

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 ...

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

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

Rare diseases affect more than 300 million people worldwide - 36 million in the EU alone - but they are often overlooked due ...

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 ...

Selumetinib can reduce the pain and size of tumors caused in adults by neurofibromatosis type 1, a rare genetic disease for ...

He was later diagnosed with a very rare genetic disorder called CTD, which stands for Creatine Transporter Deficiency which ...