Skip to Navigation
University of Pittsburgh
Print This Page Print this pages

February 5, 2015

Rare disease center established

Children’s Hospital has established a Center for Rare Disease Therapy, focused on providing new treatments for infants, children, adolescents and young adults who have been diagnosed with rare diseases and disorders. The center brings together experts from across the hospital and health system to tackle complex problems.

According to the National Institutes of Health, a rare or “orphan” disease is one that affects fewer than 200,000 individuals in the United States. Today, there are nearly 7,000 different rare diseases and disorders, with more being discovered every day.

Children’s treats a multitude of rare diseases, including Byler disease, combined immune deficiency syndrome, Hurler syndrome, Krabbe disease, glycogen storage disorders and maple syrup urine disease (MSUD).

In addition, the center collaborates with physicians and institutions engaged in researching and diagnosing rare diseases in children and supporting them and their families. One example is the ongoing collaboration with the Clinic for Special Children in Strasburg, Pennsylvania. In collaboration with the clinic, Children’s became the world’s first hospital to establish a liver transplantation protocol for patients with MSUD; more than 50 children with MSUD have received liver transplants here. By concentrating on specific rare diseases, the new center is able to bring together its experts and form necessary collaborations to focus on the advancement of innovative therapies.

For more information on the Center for Rare Disease Therapy, go to