Welcome to the Hirschsprung Disease Research Collaborative Website

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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.
 
Over the last 22 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, Jia Yan, at jyan13@jhmi.edu or (410) 502-7541. 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
 

  • Aravinda Chakravarti, PhD
    Director, Center for Complex Disease Genomics
    Professor of Medicine, Pediatrics, Molecular Biology and Genetics
    McKusick-Nathans Institute of Genetic Medicine
    Johns Hopkins University School of Medicine
    733 North Broadway, Room 579
    Baltimore, MD 21205
    aravinda@jhmi.edu

 

  • 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

 

  • 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

 

 

  • 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

 

 

  • 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

 

  • Courtney Berrios, MSc, ScM
    Genetic Counselor/Study Coordinator
    McKusick-Nathans Institute of Genetic Medicine
    Johns Hopkins University
    733 North Broadway, Room 572
    Baltimore, MD 21205
    (410) 502-7541
    cberrios@jhmi.edu

 

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