Researchers report first clinically actionable findings for a rare blood vessel disease in a study of four unrelated families, all with the same genetic variant.
The lung stiffness and scarring characteristic of this rare disease may be linked to environmental gene alterations.
It’s often difficult to manage patients with this skin inflammation, but new research identifies a target that existing medications are able to address.
Researchers identify genetic variants that lead to a severe developmental syndrome. The findings could mean better screening and diagnosis for patients with inherited syndromes.