Children's Hospital is part of the UPMC family.
Be safe anytime, anywhere.
To find a pediatrician or pediatric specialist, please call 412-692-7337 or search our directory.
A resource for our network of referring physicians.
For more information about research, please call our main office at 412-692-6438.
Children's Hospital is ranked One of America's Best Children's Hospitals.
8:00 a.m. – 8:15 a.m.
Jodie Vento, MGC, LCGC Manager, Center for Rare Disease Therapy, Children’s Hospital of Pittsburgh of UPMC
Michael Drnach, MBA, Executive Director, Children’s Subspecialty Services, Children’s Hospital of Pittsburgh of UPMC
8:15 a.m. – 8:45 a.m.
The Power of Translational Research
Jerry Vockley, MD, PhD
8:45 a.m. – 9:15 a.m.
Rare Disease Gene Discovery in Plain Populations
Erik Puffenberger, PhD
9:15 a.m. – 9:30 a.m.
Validating Candidate Variants of Interest: Principles into Practice
Karlla Brigatti, MS, LCGC
9:30 a.m. – 10:00 a.m.
Propionic Acidemia & Cobalamin-C Variants in the Plain Communities: Natural History, Biochemistry, and Outcome - Therapeutic Methionine Depletion of the Brain - Helpful or Harmful
Holmes Morton, MD
10:00 a.m. – 10:15 a.m.
Jerry Vockley, Holmes Morton, Erik Puffenberger & Karlla Brigatti, MS, LCGC
10:15 a.m. – 10:30 a.m.
10:30 a.m. – 11:10 a.m.
Rare Genetic Disorders of the Eye and Novel Treatment Modalities Ellen Mitchell, MD (5 min Q&A)
11:15 a.m. – 12:00 p.m.
Special Presentation: The Advancing Hope Act
Sen. Bob Casey
12:00 p.m. – 1:00 p.m.
1:15 p.m. – 1:45 p.m.
Outcomes of Umbilical Cord Blood Transplantation for the Treatment of Leukodystrophies and Mucopolysaccharidoses
Maria Escolar, MS, MD
1:45 p.m. – 2:15 p.m.
Reduced Intensity Conditioning for Bone Marrow/Stem Cell Transplant in Non-Malignant Disorders
Mark Vander Lugt, MD
2:15 p.m. – 2:45 p.m.
Health Beliefs among Females Diagnosed and At-Risk for Fabry Disease
Katie Long MS, LCGC
2:45 p.m. – 3:00 p.m.
Maria Escolar, Mark Vander Lugt, Katie Long
3:00 p.m. – 3:15 p.m.
3:15 p.m. – 3:45 p.m.
Liver Transplant for Metabolic Disease
George Mazariegos, MD
3:45 p.m. – 4:15 p.m.
Total pancreatectomy and islet cell autotransplant to treat chronic pancreatitis
Mark Lowe, MD
4:15 p.m. – 4:45 p.m.
Robert Squires, MD
4:45 p.m. – 5:00 p.m.
George Mazariegos Mark Lowe, & Robert Squires
5:00 p.m. – 5:45 p.m.
Closing Keynote: The Next Generation of Newborn Screening: Early Therapeutic Intervention
Edwin Naylor, MD, PhD
Jerry Vockley, MD, PhD
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
Children’s Hospital of Pittsburgh of UPMC
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.
With myCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Visit Children's Hospital of Pittsburgh Foundation's website to: