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The one-day conference, “Advancing Hope: Pioneering Therapy for Rare Disease,” was held Feb. 19, 2016, to explore innovative therapies for children who are diagnosed with rare diseases. It was sponsored by the Center for Rare Disease Therapy at Children's Hospital of Pittsburgh of UPMC and the University of Pittsburgh School of Medicine, Center for Continuing Education in the Health Sciences.
View the presentations below from our distinguished panel of internationally-renowned experts.
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Welcome
The Power of Translational Research Jerry Vockley, MD, PhD Chief, Genetic and Genomic Medicine Director, Center for Rare Disease Therapy Children’s Hospital of Pittsburgh of UPMC Cleveland Family Professor of Pediatric Research Professor of Human Genetics University of Pittsburgh School of Medicine
Rare Disease Gene Discovery in Plain Populations Erik Puffenberger, PhD Laboratory Director, Clinic for Special Children
Validating Candidate Variants of Interest: Principles into Practice Karlla Brigatti, MS, LCGC Genetic Counselor, Clinic for Special Children
Propionic Acidemia and Cobalamin-C Variants in the Plain Communities: Natural History, Biochemistry, and Outcome - Therapeutic Methionine Depletion of the Brain – Helpful or Harmful D. Holmes Morton, MD Co-Founder, Clinic for Special Children
Panel Discussion J. Vockley, D. H. Morton, E. Puffenberger, K. Brigatti
Rare Genetic Disorders of the Eye and Novel Treatment Modalities Ellen Mitchell, MD Division of Pediatric Ophthalmology, Strabismus, and Adult Motility Children’s Hospital of Pittsburgh of UPMC
Outcomes of Umbilical Cord Blood Transplantation for the Treatment of Leukodystrophies and Mucopolysaccharidoses Maria Escolar, MS, MD Director, Program for the Study of Neurodevelopment in Rare Disorders Children’s Hospital of Pittsburgh of UPMC Associate Professor of Pediatrics, University of Pittsburgh School of Medicine
Reduced Intensity Conditioning for Bone Marrow/Stem Cell Transplant in Non-Malignant Disorders Mark Vander Lugt, MD Pediatric Hematology/Oncology Children’s Hospital of Pittsburgh of UPMC
Health Beliefs among Females Diagnosed and At-Risk for Fabry Disease Katie Long MS, LCGC Genetic Counselor Children’s Hospital of Pittsburgh of UPMC
Panel Discussion M. Escolar, M. Vander Lugt, K. Long
Total Pancreatectomy and Islet Cell Auto Transplant to Treat Chronic Pancreatitis Mark Lowe, MD Chief, Pediatric Gastroenterology, Hepatology and Nutrition Children’s Hospital of Pittsburgh of UPMC Carol Ann Craumer Endowed Chair for Pediatric Research Professor and Vice-Chairman of Pediatrics, University of Pittsburgh School of Medicine
Pediatric Liver Transplantation for Metabolic Disease and the Role of Living Donor Transplantation George Mazariegos, MD Chief, Transplant Services Hillman Center for Pediatric Transplantation, Children’s Hospital of Pittsburgh of UPMC Jamie Lee Curtis Professor of Surgery and Critical Care Medicine University of Pittsburgh School of Medicine
Panel Discussion G. Mazariegos and M. Lowe
The Next Generation of Newborn Screening: Early Therapeutic Intervention Edwin Naylor, MD, PhD Expert in newborn screening 2014 Recipient of the Robert Guthrie Award
Closing Remarks Dr. Vockley
The University of Pittsburgh is an affirmative action, equal opportunity institution.
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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