Hirschsprung Disease Genetic Study

Dr. Aravinda Chakravarti's laboratory at Johns Hopkins University has been investigating the genetics of Hirschsprung disease (HSCR) for more than twenty years and has played an important role in identifying several genes involved. However, there is more work to be done in clarifying the genetic basis of HSCR. The aims of the study are to continue the search for genes involved in Hirschsprung disease, to further characterize known genes, and improve our understanding of how genes interact to lead to the disorder. Our expectation is that the study will lead to better understanding of the genetics of Hirschsprung disease and, further down the road, improved diagnosis, treatment, and genetic counseling.

Study volunteers are individuals with Hirschsprung disease and their family members. Study volunteers are asked to complete a medical/family history questionnaire and to submit blood samples (or cheek swab/saliva samples) from the individual(s) affected with Hirschsprung disease and, if available, his/her parents. The researchers may also ask for access to some medical records. Interested participants will receive a study kit in the mail, which includes the questionnaire, consent forms, and blood collection and shipping supplies. The study will reimburse participants for costs associated with the blood draw.

In the laboratory, DNA is extracted from the samples and a variety of methods are used to study individual DNA sequences. Individual results are not disclosed but newsletters are distributed with updates about the study's findings. Please contact the study coordinator, Courtney Berrios, for more information.