The Center for Rare Disease Therapy (CRDT) at UPMC Children's Hospital of Pittsburgh, under the direction of Jerry Vockley, MD, PhD, consists of international experts in a variety of medical disciplines, including genetics, ophthalmology, transplant surgery, gastroenterology, immunology, rheumatology, nephrology, hepatology, BMT, cardiology and neurodevelopment focused on treating children with rare genetic conditions, defined by leading standards of care, pioneering protocols, and individualized services in a world-class environment.

The CRDT team of experts are involved in individual and collaborative research and clinical trials for novel, rare genetic conditions. This research includes innovative treatment options and natural history studies that allow patients and families to contribute to and benefit from cutting-edge developments in the management and treatment of rare diseases. 

Appointments, Consultations and Referrals

Every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.

Conditions We Treat

We treat children who are diagnosed with rare diseases throughout the United States and globally.

Our Innovative Treatments and Therapies

Patients with rare diseases have access to various innovative therapies and research opportunities with Pitt Pediatrics and Children's Hospital.


Contact faculty and staff of the Center for Rare Disease Therapy.