Last updated on October 2015

Hirschsprung Disease Genetic Study


Brief description of study

Hirschsprung disease is a genetic condition caused by lack of nerve cells in varying lengths of the intestines. This study will investigate the complex genetic basis of the disease, which involves multiple interacting genetic factors.

Detailed Study Description

Dr. Aravinda Chakravarti's laboratory at Johns Hopkins University has been investigating the genetics of Hirschsprung disease (HSCR) for more than twenty years. The purpose of our study is to continue the search for genes involved in Hirschsprung disease and to further characterize the known genes and the interactions between them. Our study will hopefully lead to a better understanding of the genetics of HSCR and, further down the road, improved diagnosis, treatment, and genetic counseling. We ask study volunteers to: 1. complete a medical/family history questionnaire 2. provide access to some medical records 3. submit blood samples from the individual(s) affected with Hirschsprung disease and his/her parents (if available) If you are interested, a kit containing all the materials necessary to participate can be sent to you. There will be no cost to you.

Clinical Study Identifier: NCT00478712

Contact Investigators or Research Sites near you

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Courtney Berrios, ScM

Institute of Genetic Medicine
Baltimore, MD United States
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