Medical Professional Publications

Research Now: Gariepy Leads Nationwide Children’s Participation in Hirschsprung Disease Research Collaborative

Hirschsprung disease is a birth defect in which the nerves of the colon are absent. The lack of nerve cells leads to obstruction of the intestine and severe constipation, which is currently treated by surgical removal of the abnormal segment of intestine. While the majority of patients do well after surgical treatment, approximately 20% of patients experience long-term complications including chronic constipation and soiling. Hirschsprung disease occurs in 1/5000 live births worldwide with boys more often affected than girls. Autosomal dominant, autosomal recessive, and multigenic patterns of inheritance occur and, to date, more than 10 genes have been implicated in causing the disorder.

Dr. Cheryl Gariepy is member of the steering committee of the Hirschsprung Disease Research Collaborative (HDRC), an international group of experts headed by Dr. Arivinda Chakravarti at Johns Hopkins University School of Medicine. The goal of the HDRC is to collect a large amount of clinical and tissue data to better understand the genetic causes of Hirschsprung disease and how these relate to presentation and outcome; to improve and standardize the surgical and pathological approach to Hirschsprung disease; and to comprehensively characterize clinical outcomes, complications and quality of life. Nationwide Children’s Hospital will soon become an active enrollment site for the current study with the participation Dr. Brian Kenney (Pediatric Surgery), Dr. Katherine Deans (Pediatric Surgery) and Dr. Jane Balint (Pediatric Gastroenterology). The patient information collected by the HDRC will serve as a great resource to improve the diagnosis and treatment of patients with Hirschsprung disease and related diagnosis.

Related publications:

Gisser JM, Cohen AR, Yin H, Gariepy, CE. A novel bidirectional interaction between endothelin-3 and retinoic acid in rat enteric nervous system precursors. PLOS One. 2013 Sep 9, 8(9):e74311.

Tsai Y-H, Murakami N, Gariepy CE. Postnatal intestinal engraftment of prospectively selected enteric neural crest stem cells in a rat model of Hirschsprung disease. Neurogastroenterology and Motility. 2011, 23:362-369.

Book Chapters:

Gisser JM and Gariepy CE. Genetics of Motility Disorders: Gastroesophageal Reflux, Triple A. Hirschsprung’s Disease, and Chronic Intestinal Pseudo-Obstruction. In Pediatric Neurogastroenterology: Gastrointestinal Motility and Functional Disorders in Children. Edited by C Faure, C DiLorenzo, N Thapar. Springer, New York, 2013, pp 202-216.

Gariepy, CE. Human/Clinical Genetics/Hirschsprung’s Disease. In Brenner’s Online Encyclopedia of Genetics, 2 Edition. Edited by S Maloy and K Hughs. Elsevier Academic Press, Oxford, UK, 2013.

Ciciora SL and Gariepy CE. Hirschsprung Disease. In Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, and Management, 6 Edition. Edited by RE Kleinman, OJ Goulet, G Mieli-Vergani, IR Sanderson, PM Sherman, BL Schneider. BC Decker Inc., Hamilton, Ontario Canada, accepted.

Saha M and Gariepy, CE. Introduction to Endothelin-B Receptor and Sox10 Signaling Pathways. In Molecular Basis of Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis, 3 Edition. Edited by CJ Epstein, RP Erickson, A Wynshaw-Boris. Oxford University Press, New York, accepted.

myChildren’s mobile app

iPhone and Android.

Download Today! »

Nationwide Children's Hospital
700 Children's Drive Columbus, Ohio 43205 614.722.2000