Genetic Analysis of Hirschsprung Disease

Brief description of study

This research is being done to identify genes that are involved in the development of, or susceptibility to, the birth defect termed Hirschsprung disease (HSCR). Hirschsprung disease is a disorder characterized by lack of nerve cells in the gut, rendering individuals with the disorder unable to have muscle contractions necessary to pass stool. Hirschsprung disease is a complex, multifactorial condition caused by many genes. This genetic research will be done on the DNA in blood and saliva samples provided by individuals with HSCR and their affected and unaffected relatives. This study will enroll individuals with HSCR and individuals who have a first, second, or third degree relative with HSCR (e.g. parents, siblings, children, grandchildren, nieces/nephews, aunts/uncles, cousins, grandparents, great-aunts/uncles).


Clinical Study Identifier: s17-01813
Principal Investigator: Aravinda Chakravarti.
Other Investigator: Sumantra Chatterjee.


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