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.

A Michigan Medicine professor and a U-M medical student created an app to help patients manage HHT, a systemic blood vessel disorder characterized by excessive nose bleeding.

With the help of a new human embryonic stem cell line, researchers make initial strides toward treatment for the genetic mutation.

Universities that sell access to their biobanks to private companies should tell patients and be transparent about how profits are used, a new survey shows.