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

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

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

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

Scientists at The Jackson Laboratory (JAX) have developed mouse models that survive premature death and enable pre-clinical ...

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 ...

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 ...

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