Dr. Aravinda Chakravarti's laboratory at Johns Hopkins University has been investigating the genetics of Hirschsprung disease (HSCR) for fifteen 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 purpose of the study is to continue the search for genes involved in Hirschsprung disease and to further characterize the known genes and the interactions between them. The study will hopefully lead to a better understanding of the genetics of HSCR and, further down the road, improved diagnosis, treatment, and genetic counseling.

Study volunteers are asked to complete a medical/family history questionnaire and to submit blood 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 blood 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 Nichols, for more information.