for
Families, Children, Teens and Adults Who Are Living With The Challenges of
Congenital Anorectal, Colorectal or Urogenital Disorders
Hirschsprung Disease Genetics Study
Dr. Aravinda Chakravarti’s laboratory at Johns Hopkins University has been investigating the genetics of Hirschsprung disease (HSCR) for more than fifteen years. The purpose of our study is to continue the search for genes involved in Hirschsprung disease and to further characterize the known genes and the interactions between them. Our study will hopefully lead to a better understanding of the genetics of HSCR and, further down the road, improved diagnosis, treatment, and genetic counseling.
We ask study volunteers to:
* complete a medical/family history questionnaire
* provide access to some medical records
* submit blood (or cheek swab/saliva) samples from the individual(s) affected with Hirschsprung disease and his/her parents (if available)
If you are interested, a kit containing all the materials necessary to participate can be sent to you. There will be no cost to you.
For more information please contact the study coordinator, Courtney Nichols, at 410-502-7541 or hirschsprung@igm.jhmi.edu.
You can also visit our study website at: http://chakravarti.igm.jhmi.edu/pro_site/AravindaChakravartiLab/Hirschsprung_Study.html
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The relevance of any information contained in any article or publication provided by Pull-thru Network on this website, or through any other source, should be discussed by the patient, or the patient's parent(s) or caregiver(s), with their own physician(s). You should always discuss any changes in your, or your child's, care with the medical professionals who are familiar with your, or your child's, diagnosis and particular situation.