Center for Rare Disease Therapy Doctors and Staff

Meet our internationally-renowned experts who offer innovative therapies and specialized care for patients with rare diseases.

Gerard Vockley

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 Escolar, MD

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.

 Ira Fox, MD


Ira Fox, MD
Director, Center for Innovative Regenerative Therapies
Children’s Hospital of Pittsburgh of UPMC 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

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 

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.

Holmes D. Morton

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.”

Ken K. Nischal, MD, FRCOphth Chief, Division of Pediatric Ophthalmology, Strabismus, and Adult Motility

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.

Kyle Soltys, MD

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.


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

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 Vento, MGC, LCGC, Manager, Center for Rare Disease Therapy, Genetic Counseling Supervisor, Laboratory Services  Jodie Vento, MGC, LCGC
Manager, Center for Rare Disease Therapy
Genetic Counseling Supervisor, Laboratory Services