Advancing Hope: Pioneering Therapy for Rare Diseases

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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SESSION 1

Welcome

• 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

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

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SESSION 2

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

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SESSION 3

Outcomes of Umbilical Cord Blood Transplantation for the Treatment of Leukodystrophies and Mucopolysaccharidoses
Maria Escolar, MS, MD
Director, UPMC Children’s Center for NeuroGenomics (CCNG)
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

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SESSION 4 

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

Closing Keynote

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.