UPMC, Pitt Partnership a ‘Center of Excellence’ for Rare Genetic Disorder

By: Tim Betler and Allison Hydzik


When their daughter stopped walking on Mother’s Day, one local family embarked on a path to learning that they’re carriers of a rare genetic disorder called hereditary hemorrhagic telangiectasia (HHT).

At the same time, UPMC and the University of Pittsburgh were simultaneously finalizing a partnership that recently earned them “Center of Excellence” status in the disorder from an international organization. This means that little Charlotte is running again and her parents are reassured that UPMC is bringing its multidisciplinary expertise to managing the family’s care, while Pitt researchers search for a cure.