A collaboration between the Children’s Hospital of Philadelphia and Penn Medicine offers children and adults with Williams ...

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 ...

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 ...

Based on these findings, as well as the patient's medical history, the doctors determined that she had a rare genetic condition called alkaptonuria. Globally, the inherited disease is thought to ...

Once you have the right database and know disease prevalence based on regions and subgroups, Indian pharma's huge potential ...

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

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

GRIN-related neurodevelopmental disorder (GRIN-NDD) is a family of rare, genetically defined neurodevelopmental disorders ...