Welcome to the Hirschsprung Disease Research Collaborative (HDRC) website and thank you for visiting. The HDRC is an academic research collaboration involving geneticists, pediatric surgeons, pediatricians and gastroenterologists interested in a global genetic analysis of Hirschsprung disease to answer questions regarding susceptibility genes for aganglionosis and its complications (such as enterocolitis), and how this genetic information can be used for disease prediction, disease management and therapeutic advances. Collaborative Champions for the HDRC at various institutions support our mission to identify the specific genes and mechanisms that contribute to Hirschsprung disease to improve our overall understanding of the molecular pathophysiology of this common birth defect.
For nearly 30 years, the HDRC organizers have conducted genetic analyses of Hirschsprung disease, identifying genes and elucidating mechanisms that contribute to the development of this potentially devastating intestinal condition. In 2011, the HDRC was formed to further this work by obtaining insight from additional professionals with an interest in Hirschsprung disease and by increasing the sample size available to complete novel studies. In our current research, we continue our work to identify additional genes involved in Hirschsprung disease and further characterize the genes already linked to the disease. We also seek to investigate the correlation of specific genetic mutations and the interaction of multiple genes and environmental factors with the evolution of clinical disease and the outcome and risk of complication after surgical management of the disease. The goals of the HDRC’s research are to provide improved genetic counseling for patients and families and discover possibilities for improved and individualized treatment of this disease.
Collaborative Champions in the HDRC provide input into the future research of the Collaborative during planned quarterly conference calls, assist with enrollment of patients and parents, and may complete study protocol processes. Collaborative Champions also have access to de-identified HDRC data for use in their own IRB-approved studies. Options for active enrollment or referral of participants to the coordinating center exist. The links to the left provide additional information about the study including brief protocols for participation in the HDRC, study documents, Frequently Asked Questions and links to Hirschsprung disease genetics review papers.
We invite you to browse through this site to obtain more information about the HDRC. If you have any questions, please do not hesitate to contact the Study Coordinator, Magan Trottier, at hirschsprung@nyulangone.org or (212) 263-8069. You may also contact any of the HDRC organizers listed below. Researchers and clinicians who would like to register for participation in the HDRC can click on the Register button at the top of the page, where you will be asked to enter your contact information and preferences. The study coordinator will then contact you with additional details about how your institution can participate in this study.
HDRC Organizers
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Aravinda Chakravarti, PhD
Director, Center of Human Genetics and Genomics
Professor of Medicine, Pediatrics, Molecular Biology and Genetics
NYU School of Medicine
Science Building, Room 802
435 E 30th Street
New York, NY 10016
Aravinda.Chakravarti@nyulangone.org
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Jacob C. Langer, MD
Professor of Surgery, University of Toronto
Chief and Robert M. Filler Chair
Division of Pediatric General and Thoracic Surgery
Hospital for Sick Children,
555 University Ave, Room 1526
Toronto, Ontario, M5G 1X8, Canada
jacob.langer@sickkids.ca
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Fizan Abdullah, MD, PhD
Associate Professor of Surgery and International Health
Assistant Program Director, Residency in General Surgery
Johns Hopkins University School of Medicine and Bloomberg School of Public Health
600 N. Wolfe St., Harvey 319
Baltimore, MD 21287
fa@jhmi.edu
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Raj P. Kapur, MD, PhD
Department of Laboratories, A6901
Seattle Children's Hospital
4800 Sand Point Way NE
Seattle, WA 98105
raj.kapur@seattlechildrens.org
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Philip K. Frykman, M.D., Ph.D., M.B.A.
Associate Director, Pediatric Surgery
Associate Professor of Surgery & Biomedical Sciences
Cedars-Sinai Medical Center
Assistant Professor of Surgery and Pediatrics David Geffen School of Medicine at UCLA
8635 W. Third St. Suite 665 W
Los Angeles, California 90048
Philip.Frykman@cshs.org
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Cheryl E. Gariepy, M.D.
PI, Human and Molecular Genetics
Associate Professor, Pediatric Gastroenterology
W431, The Research Institute at Nationwide Children's Hospital
700 Children's Drive
Columbus, Ohio 43205
Cheryl.Gariepy@NationwideChildrens.org
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Stanislas Lyonnet, M.D., Ph.D.
Professor of Genetics, Université Paris Descartes
Département de Génétique
IHU Imaginee
Hôpital Necker-Enfants Malades
149, rue de Sèvres
75743 Paris cedex 15
France
stanislas.lyonnet@inserm.fr
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Magan Trottier, M.Sc., M.Sc.
Senior Research Coordinator/Genetic Counselor
Center for Human Genetics and Genomics
NYU School of Medicine
Science Building
435 East 30th Street, Room 805
New York, NY 10016
magan.trottier@nyulangone.org
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Jia Yan, PhD, MS, CGC
Senior Research Coordinator/Genetic Counselor
Center for Human Genetics and Genomics
NYU School of Medicine
Science Building
435 East 30th Street, 8th Floor
New York, NY 10016
jia.yan@nyulangone.org