Children’s Hospital of Pittsburgh Using Conference to Launch its Center for Rare Disease Therapy

About 12 years ago, as doctors at Children’s Hospital of Pittsburgh of UPMC wrestled with how to better treat patients with a rare condition called maple syrup urine disease, they hit upon a new approach: Liver transplant.

Since then, more than 60 children have received transplants relieving them of a disease that can cause brain damage. “It’s an amazing kind of transformation of care,” said George V. Mazariegos, chief of pediatric transplantation.

UPMC hopes to encourage more of such breakthroughs with a conference today on rare diseases. Speakers include Dr. Mazariegos; Jerry Vockley, director of the hospital’s new Center for Rare Disease Therapy; and Edwin Naylor, a South Carolina-based specialist in infant disease screening. Also speaking will be U.S. Sen. Bob Casey Jr., who has sponsored legislation to encourage research into rare diseases.

Dr. Vockley called the conference the public launch of the new center, which aims to bring together the few experts in various rare diseases to standardize treatments and develop new ones. He predicted the work will reassure “frustrated, scared, uncertain” parents, and Mr. Casey, in an email, said these families need help navigating the health care system.

“To be able to find a center that really focuses on rare diseases gives the parents a chance to say, there is some hope here,” Dr. Vockley said.

 

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