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Meet our internationally-renowned experts who offer innovative therapies and specialized care for patients with rare diseases.
Jerry Vockley, MD, PhD
Director, Center for Rare Disease Therapy
Chief, Medical Genetics
Dr. Vockley is an international leader in treatment and research in medical genetics and the field of inborn errors of metabolism. He is also a founder of the North American Metabolic Academy.
Maria Luisa Escolar, MD, MS
Director, Program for the Study of Neurodevelopment in Rare Disorders
Dr. Escolar is an NIH-funded investigator who is internationally known for her work in muccopolysiaccharidosis, leukodistrophies, and other white matter diseases of the brain following more than 600 patients. Her program developed the first neuroimaging tool that predicts the progression of leukodystrophies.
Scott Canna, MD
As an expert on autoinflammatory diseases, Dr. Canna made a major contribution to this still-emerging field when he played a role in uncovering the genetic cause of a potentially life-threatening autoinflammatory disease called macrophage activation syndrome or MAS. He directs a lab dedicated to understanding the underlying causes of autoinflammatory diseases.
Dr. Chong’s background in immunology enables her to draw on a network of researchers and specialized labs around the country, who assist her diagnostic work by performing highly sophisticated laboratory and genomic tests.
Brian Feingold, MD
Medical Director, Pediatric Heart Failure and Heart Transplant Programs
Dr. Feingold is an internationally recognized expert in the care of children with Barth syndrome, an extremely rare condition in which a cardinal symptom is heart failure.
Ira Fox, MD
Director, Center for Innovative Regenerative Therapies
UPMC Children's Hospital of Pittsburgh and McGowan Institute
for Regenerative Medicine
A world authority on liver stem cells with over 30 years of experience in performing liver transplants, Dr. Fox is the first person to successfully transplant hepatocytes into a patient with a metabolic disorder.
George V. Mazariegos, MD, FACS
Chief, Pediatric Transplantation
Dr. Mazariegos and his team developed the protocol for liver transplantation for maple syrup urine disease and pioneered the use of liver transplantation as a therapeutic modality for metabolic disease. His research interests include transplant tolerance, immunosuppression withdrawal and optimizing long term transplant outcomes.
Patrick McKiernan, MD
Director, Pediatric Hepatology Program
Dr. McKiernan is an internationally-renowned pediatric liver expert and specializes in the treatment of children with inherited metabolic disease. He is actively involved in research on stem cell therapy for metabolic liver disease.
D. Holmes Morton, MD
Co-Founder and Pediatrician
Clinic for Special Children, Strasburg, PA
A 2006 recipient of a MacArthur Foundation Genius Grant, Dr. Morton has been described by the Foundation as “a unique amalgam of country doctor and research physician whose model for diagnosis and treatment of hereditary metabolic disease is redefining research, prescriptions, and outcomes in the field of pediatric genetics.”
An international expert in cardiovascular genetics, Dr. Moulik also directs a research lab where she and colleagues are working to unravel the genetics of cardiomyopathy and understand how the disease originates and develops.
Ken K. Nischal, MD, FRCOphth
Chief, Division of Pediatric Ophthalmology, Strabismus, and Adult Motility
A pioneer in pediatric ophthalmic surgery, Dr. Nischal has developed surgical techniques for children with rare diseases to help cure the blindness sometimes seen in these conditions. Dr. Nischal has authored more than 100 published research articles and is one of the world’s foremost pediatric eye specialists, treating patients from all over the world.
Deepa Rajan, MD
Co-Director, Neuro-genetics Clinic
Dr. Rajan sees patients who have often severe neurologic and other symptoms that have so far eluded diagnosis, as well as patients who have been diagnosed with rare neurologic conditions caused by genetic abnormalities.
Kyle Soltys, MD
Pediatric Transplant Surgery
Dr. Soltys is an expert in complex liver transplant surgery, especially for patients who are diagnosed with rare metabolic diseases. He has been instrumental in developing partnerships with the Clinical for Special Children in Strasburg, Pa., and the University of Virginia Children’s Hospital in Charlottesville.
Deanna Steele, MGC, LCGC
Senior Genetic Counselor
Helping patients and families understand the diagnosis they have just received is an important part of Deanna‘s work as a genetic counselor at the Center for Rare Disease Therapy.
Kevin A. Strauss, MD
Medical Director, Clinic for Special Children
Dr. Strauss's expertise is in the application of knowledge from the rapidly evolving fields of genetic and genomic research to prevent disabilities in children caused by genetic diseases.
Paul Szabolcs, MD
Chief, Bone Marrow Transplantation and Cellular Therapies
A pioneer in reduced-toxicity/intensity unrelated donor cord blood transplantation for inborn errors, Dr. Szabolcs is the first to demonstrate feasibility of sequential lung and bone marrow transplantation from the same unrelated cadaveric donor.
Jodie helps families to understand the genetic abnormality that underlies their child’s illness. She also serves as a care coordinator for the Center for Rare Disease Therapy, helping arranging appointments with the multiple specialists they will likely see when they visit the Center.
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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Interested in giving to Children's Hospital? Visit Children's Hospital of Pittsburgh Foundation's website to make a donation online.