Barth Syndrome Registry and Repository
Barth Syndrome Foundation selected for Global Rare Disease Registry
The Barth Syndrome Foundation (BSF) has been selected as one of thirty-four rare disease organizations to participate in a two-year pilot program of the National Institutes of Health called the Global Rare Disease Registry and Data Repository (GRDR). As a pilot participant, BSF will work in partnership with leaders in rare disease research at the Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, PatientCrossroads, Children Hospital of Philadelphia and WebMD. The GRDR program will collect de-identified patient health information from participating registries established by the individual rare disease organizations in order to allow analyses of data across many rare diseases as well as to facilitate clinical trials and other studies.
We are delighted to take part in the pilot program, as research that we have funded for over a decade has made it clear that Barth syndrome, as a multi-system disorder, shares aspects of many other diseases. BSF believes that a collaborative approach is the best way to serve families and, ultimately, to find a specific treatment. Since 2002 BSF has funded 63 peer-reviewed research grants totaling over US $2.3 million, hosts a biennial scientific, medical and family conference, maintains a genetic mutation database for the causative gene of Barth syndrome (tafazzin). We currently have affiliates in Canada, France, the United Kingdom and South Africa.
BSF is dedicated to supporting those with Barth syndrome, their medical professionals, and the scientists who work to understand the disorder. The BSF community has benefitted from the research that has emerged in the last decade, and we expect the GRDR effort to attract even more efforts to test scientific or clinical theories.
Matthew J. Toth, PhD, Principal Investigator
Valerie M. (Shelley) Bowen, Coordinator
Information regarding the Global Rare Disease Registry and Data Repository pilot program is available at http://grdr.info.
Barth Syndrome Registry & Repository (Presentation for National Health Council)
Given by Lindsay Groff, MBA
February 15, 2013
Stay tuned! Please remember to bookmark this page for the most up-to-date information.
If you are a Patient Family and are interested in enrolling your child in the database and/or the DNA Bank, please contact the Principal Investigator, Matthew Toth (mtothbsf[at]comcast.net). This is a wonderful and very valuable way to contribute to Barth syndrome research and to help move knowledge about the disorder forward.
Physician / Researcher
If you are a physician or researcher interested in conducting research using the medical data from the Registry, DNA isolated from patients, or cell lines derived from patients, please consult contact the Principal Investigator, Matthew Toth (mtothbsf[at]comcast.net).
TISSUE BANK ADVISORY COMMITTEE
Carolyn Spencer, MD
East Carolina University
Greenville, North Carolina
|Amy E. Roberts, MD |
Cardiovascular Genetics Research Program
Children´s Hospital Boston
|Barry J. Byrne, MD, PhD
Department of Pediatrics
Shands Children´s Hospital
University School of Medicine
|Gerald Cox, MD, PhD|
Senior Medical Director
|Richard I. Kelley, MD, PhD
Division of Metabolism
Kennedy Krieger Institute
Johns Hopkins University
|Melissa Maisenbacher, MS, CGC, |
Medical Data Abstraction
University of Florida College of Medicine
|Michael Schlame, MD
Department of Anesthesiology
New York University School of Medicine
New York, New York
Colin G. Steward, FRCP, FRCPCH, PhD
Royal Hospital for Children
Matthew J. Toth, PhD
Barth Syndrome Foundation, Inc.
Iselin, New Jersey