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

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 ...

In a clinical report issued by the American Academy of Pediatrics and published online June 23 in Pediatrics, guidance is ...

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

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 ...

Changing how biopharmas package their products, how regulators review new drugs and how mutated genes are fixed could make ...

Scientists sequenced the genomes of 2,762 individuals across India, revealing the country’s unique ancestral makeup and a ...

With the FDA recently rejecting a drug application that aims to help those living with Barth Syndrome, one Bay Area family is ...

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

When nerve cells don’t end up in the right place during brain development, it can cause periventricular heterotopia —a ...

Talk about a lonely hearts club. An unnamed woman from Guadeloupe has the rarest blood type on earth, to the extent that ...