Understanding Rare Disease Registries, Part 1 Panelists

NCATS (Groft)Stephen C. Groft, Director, Office of Rare Diseases Research

Steve is the Director of the Office of Rare Diseases Research (ORDR) in the National Center for Advancing Translational Sciences at the National Institutes of Health (NIH). His major focus is on stimulating research with rare diseases and developing information about rare diseases and conditions for health care providers and the public. To help identify research opportunities and establish research priorities, the Office has co-sponsored over 1200 rare diseases-related scientific conferences with the NIH research Institutes and Centers and the extramural research community, including patient advocacy groups. Current and recent activities include establishing common data elements and patient registries for rare diseases, developing an inventory of available bio-specimens from existing bio-repositories, developing an educational module on rare diseases for middle school children, maintaining a public information center on genetic and rare diseases, developing an international rare diseases research consortium, maintaining the Rare Diseases Clinical Research Network, and assisting in the development of a special emphasis clinic with senior clinical staff for patients with undiagnosed diseases at NIH’s Clinical Research Center Hospital.

Steve received the B.S. degree in Pharmacy in 1968 and the Doctor of Pharmacy degree from Duquesne University in 1979.

CNMC (Summar)

Marshall L. Summar, MD, Chief of the Division of Genetics and Metabolism and the Margaret O’Malley Chair of Molecular Genetics at Children’s National Medical Center.

Chair of Molecular Genetics at Children’s National Medical Center. Dr. Summar is an international expert in inborn errors of metabolism particularly those in the urea cycle. His research involves translational studies taking basic molecular genetics research and developing direct clinical applications. He also is the Director for the NIH sponsored Clinical Research Center at Children’s National. His work has piloted treatments from the rare disease field to common conditions especially in the intensive care and emergency room setting. His work in the urea cycle has involved the development of treatment protocols, translational research, and basic molecular research into these rare defects in nitrogen metabolism. He is one of the founding Investigators of the Urea Cycle Disorders Consortium and works with international coordination of its efforts. Current research projects involve clinical trials working to improve the outcomes of patients with congenital heart defects, acute lung injury, asthma, and premature infants using compounds from metabolic pathways he studies.

He serves on the editorial board of The Journal of Pediatrics and is the president-elect for the Society of Inherited Metabolic Disease. He serves on the NIH study section for the CETT program, the National Human Genetic Research Institute Fellowship Training Program Board, and the NASA radiation research review panel. He is the advisor for the European Inherited Metabolic Disease Consortium and on the working group for joint US-EU research in rare disease.

PMSF logo (O'Boyle)Megan O’Boyle, Parent Advocate, Phelan-McDermid Syndrome Foundation

Megan O’Boyle’s 12 year old daughter, Shannon was diagnosed with Phelan-McDermid Syndrome (PMS) (22q13 chromosome/SHANK3 deletion), a genetic cause of Autism Spectrum Disorder (ASD) at 6 months of age. She lives with her husband, daughter and 2 sons in Arlington, Virginia.

Megan is a member of the Board of Directors of the Phelan-McDermid Syndrome Foundation and serves on the foundation’s research support committee. Megan is the registry coordinator for the foundation’s patient registry, a resource for the research community, which includes genetic and phenotypic data from over 600 of the ~900 known patients diagnosed with PMS.

Through a partnership with Stanford University, Rutgers University Cell and DNA Repository, and the NIMH Human Genetics Initiative, Megan coordinated the collection of biosamples at the PMSF 2012 Family Conference. The resulting lymphoblastoid cell lines, DNA, and fibroblasts are available through the NIMH Stem Cell Center.

Over the past few years Megan has become an active advocate for rare disease and ASD registries, streamlining the IRB process for rare diseases and involving the rare disease community in research.

GlobalEpi_Logo_VectorShira Kramer, President, GlobalEpi Research

Shira Kramer holds a PhD in Epidemiology and a Master’s degree in Human Genetics from the Johns Hopkins University School of Public Health. She is the founder and President of GlobalEpi Research, an epidemiologic research firm specializing in the design of patient registries that support natural history studies and disease-specific research.

Dr. Kramer has over 35 years of experience in designing and conducting research focusing on the etiology, epidemiology, natural history, therapeutic efficacy, and patient outcomes for a broad range of diseases, including rare disorders. She has extensive experience in developing registries and population-based surveillance systems, evaluating the quality and completeness of epidemiological data, and in the statistical analysis of complex epidemiological and biomedical data.  As a faculty member at the University of Pennsylvania and the Children’s Hospital of Philadelphia (CHOP) Children’s Cancer Research Center, Dr. Kramer was responsible for designing and conducting etiologic and clinical research based upon one of the world’s largest population-based pediatric cancer registries (the Greater Delaware Valley Pediatric Tumor Registry), and served on Advisory Boards for several US states as they were planning their statewide, population-based cancer registries. Dr. Kramer is co-author of the text books Epidemiology:  An Introductory Text and Epidemiology and Biostatistics for Tumor Registry Professionals.