Hirschsprung Disease and
Down Syndrome

Our laboratory is currently undertaking a genetic research study of Hirschsprung disease (HSCR).  As you may know, this condition affects some individuals with Down syndrome. One particular focus in our lab right now is why the incidence of HSCR in individuals with Down syndrome is greater than in the general population. It is estimated that 0.6-3% of all individuals with Down syndrome also have Hirschsprung disease, and that 2-10% of all Hirschsprung patients have Down syndrome. It may be that there is a gene on chromosome 21 that contributes to causing the disease, and this is an active area of research.

We are seeking volunteers for our research study who have Down syndrome and Hirschsprung disease.  Research study volunteers will be asked to:

1. complete a medical/family history questionnaire,
2. provide informed consent,
3. submit blood samples from the individual(s) affected with Hirschsprung disease and his/her parents. 

Julie Albertus, MS, the research study coordinator would be happy to speak with you to answer any questions you may have about our research study.  If you decide to participate, the questionnaire, consent forms, and blood collection kit will be mailed to you.  Please note that any costs associated with having your blood drawn will be reimbursed.  The research study coordinator can be reached at:
 

• Phone: (410) 502-7541
• E-mail:  hirschsprung@igm.jhmi.edu. 

Thank you for your interest in our work.