Genetic Analysis of Hirschsprung Disease

What this Trial Is About

Hirschsprung disease is a genetic birth defect caused by the absence of nerve cells in parts of the intestines, affecting about 1 in 5000 live births. This condition may occur alone or alongside other birth defects such as Down syndrome and deafness. Researchers are studying the complex genetic factors behind Hirschsprung disease to identify specific gene mutations and understand how these genes influence the disease in families and individuals. The study involves collecting blood, saliva, or DNA samples from individuals with Hirschsprung disease and their relatives. Researchers will analyze these samples using whole genome mapping and sequencing to find genetic variations linked to the disease. Participants will also provide medical and family history information, and access to medical records will be requested to explore how genetic differences relate to clinical outcomes. Participants will complete questionnaires and provide biological samples, which will be used for DNA isolation and possibly cell line creation. Researchers will gather clinical data related to pathology and surgery to examine correlations between genetic variants and disease features. The study includes long-term follow-up to monitor outcomes such as the need for repeat surgeries and bowel control issues, with data collection continuing for up to 100 years after enrollment.

Hirschsprung Disease Genetic Study