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Children's Hospital Establishes Rare Disease Treatment Center

There are nearly 7,000 different rare diseases around the world, and according to the National Institute of Health (NIH), more than 25 million Americans have one of them.

To develop new treatments for the “orphan” diseases, Children’s Hospital of Pittsburgh of UPMC has established the Center for Rare Disease Therapy.

The program takes 10 of the top physicians from a range of fields at the hospital and puts them under one roof. The center currently treats nearly 30 rare conditions, including as Krabbe disease, a fatal degenerative disorder occurring in one in 100,000 births, and maple syrup urine disease, which prevents the body from breaking down certain proteins, leading to seizures, coma and death if left untreated, according to the NIH.

“It brings a focus on new therapies for these disorders,” said Dr. Jerry Vockley, chief of medical genetics. “So, many of the disorders that we treat in the center, we have one-of-a-kind therapies that are available here and no place else.”

More than five years ago, Children’s was the first hospital to develop a liver transplant protocol for patients with maple syrup urine disease. Since then, more than 50 children have had the surgery.

With the addition of the treatment center, Vockley and his colleagues expect to develop even more innovative therapies.

“That collaborative effort inevitably leads to new ideas and improvements in therapy just based on the experience of the group and the power of bringing them together,” he said.

Vockley also expects the center to bring in patients from around the world.

“It’s a testament to the commitment that the hospital has to these disorders that are appropriately called ‘orphan’ disorders,” he said. “They don’t have much of a home anywhere else and I’m just delighted that we can provide that home here at Children’s.”