How to get involved

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If you or your family member have been diagnosed with Hirschsprung disease (regardless of whatever other health problems may exist), we would welcome your participation» in our research study!

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. 

Researchers in our laboratory analyze the DNA of individuals with Hirschsprung disease and their family members, using a variety of methods.  They look for changes in the DNA sequence that could account for the development of HSCR. 

The research study coordinator, Courtney Nichols, would be happy to speak with you to answer any questions you have about HSCR in general, or about the details of 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 (kindly speak with us first).  There is no compensation for participating in the study. 

Courtney can be reached at:

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

Thank you for your interest in our work.