Johns Hopkins Medicine

About

Thank you for visiting Hirschsprung disease study website! This site has been put together by the laboratory of Aravinda Chakravarti, PhD, where we have a large, ongoing genetic study of Hirschsprung disease. The site gives a brief introduction to what Hirschsprung disease is and gives more detailed information on what we know about the genetic basis of Hirschsprung disease. The site also describes the genetic studies taking place in our laboratory and how people with Hirschsprung disease and their family members can get involved in our studies. Also included are links for additional information sources and support groups dealing with Hirschsprung disease (HSCR).

* Please note: we are not able to help with clinical or diagnostic issues that you or your family member may be having, nor are we able to make referrals to doctors. This site is meant to provide information only and any personal health concerns should be discussed with your doctor.

Please send comments or suggestions to this email address.

Hirschsprung Overview

Disease Genetics

Genetic Testing and Counseling

As discussed on our Hirschsprung disease genetics page, there have been several genes found to play a role in causing Hirschsprung Disease (HSCR). The search is ongoing for more genes involved in HSCR, but some people are interested in finding out if they can get genetic testing now. This page discusses the genetic testing available now through a doctor.

Research Study

Getting Involved

If you or your family member has been diagnosed with Hirschsprung disease (HSCR), we would welcome your participation in our research study!  We need participants with all segment lengths of Hirschsprung disease, with or without a family history of the disease, and with or without other health problems.

Research study volunteers will be asked to:

  1. complete a medical/family history questionnaire,
  2. provide informed consent (agreement to participate in the study),
  3. provide medical records about the Hirschsprung disease diagnosis or sign a release for us to request these records
  4. submit blood samples from the individual(s) affected with Hirschsprung disease and, if available, his/her parents.

For minors or others who cannot provide legal consent, a parent or guardian can provide consent (with appropriate agreement of the minor participant) and complete the study paperwork.

Researchers in our laboratory study the genetic material of individuals with Hirschsprung disease and their family members using a variety of methods.  They look for changes in the genetic material that could lead to HSCR.

The research study coordinator, Magan Trottier, would be happy to speak with you to answer any questions you have about HSCR genetics or our research study.  If you decide to participate, the questionnaire, consent forms, medical records release, 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).  Research study volunteers are not paid for participating in the study.

The research study coordinator, Magan Trottier, can be reached at:

Phone: (212)-263-8069

Email

Thank you for your interest in our work.

* Please note unencrypted e-mail sent over the Internet is not secure.  This means that information sent by e-mail could be intercepted and may not remain confidential.

Key Papers

  • Kapoor A, Auer DR, Lee D, Chatterjee S, Chakravarti A: Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development. Hum Mol Genet 2017 Mar 7. doi: 10.1093/hmg/ddx084. PMID: 28334784.

  • Tang C S-m, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM: Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. Hum Mol Genet pii: ddw333, 2016. PMID 27702942.

  • Chatterjee S, Kapoor A, Akiyama JA, Auer DR, Lee D, Gabriel S, Berrios C, Pennacchio LA, Chakravarti A: Enhancer variants synergistically drive dysregulation of the RET gene regulatory network in Hirschsprung disease. Cell 167:355-368, 2016. PMID 27693352. PMC5113733.

Contact

CONTACT

Center for Human Genetics and Genomics
NYU School of Medicine
Science Building, Room 823 R
435 E 30th Street
New York, NY 10016 USA

Tel: (212)-263-8029 Fax:(646)-501-4526

Administrative Coordinator: Jessica Jaffe
Lab Manager: Dallas Auer

LOCATION

      CAMPUS MAP