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Children’s Hospital of Pittsburgh of UPMC has established a Center for Rare Disease Therapy, focused on providing new, sometimes breakthrough treatments for infants, children, adolescents and young adults from around the world 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.
“Patient families travel from all over the world to Children’s Hospital looking for hope and answers, especially when they can’t find it at their local hospital. We are different in that we have developed expertise in every single aspect of pediatric care,” said David H. Perlmutter, M.D., physician-in-chief and scientific director, Children’s Hospital, and Distinguished Professor and Vira I. Heinz Endowed Chair, Department of Pediatrics, Pitt School of Medicine. “From the research that is done to develop a specific therapy, to the multidisciplinary team that puts the care program together and helps the family to execute it, our work gives hope for families.”
According to the National Institutes of Health (NIH), 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, maple syrup urine disease (MSUD), and many more. Internationally renowned physicians at the hospital who are experts in their fields include:
In addition, the center actively 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, Pa. In collaboration with the clinic, Children’s became the world’s first hospital to establish a liver transplantation protocol for patients with MSUD and now more than 50 children with MSUD have received liver transplants here. By concentrating on specific rare diseases, like MSUD, 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, visit www.chp.edu/rarecare.
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Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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