- 2015 Funded Research Projects:Identification of Genetic Causes of Human Bladder Exstrophy Birth DefectBoston Children's HospitalBoston, MAThe advent of genomic technologies enables a complete sequencing of patients' genome, which is the key first step toward identification of the exstrophy-epispadias complex disease genes. Boston Children's Hospital Exstrophy Genetics Initiative began in 2013. This is a joint effort between faculty members at the Department of Urology, the Manton Center for Orphan Disease Research, Newborn Medicine, and the Department of Genetics. At the same time, we have teamed up with pediatric urologists at Children's Hospital of Philadelphia and Children's Hospital of Wisconsin to form the Multi-Institutional Bladder Exstrophy Consortium, which has significantly broadened our patient base.  To date, we have accumulated a total of 12 patient samples (from both cheek swab and affected region) as well as control samples from unaffected normal parents (cheek swab). We will perform genome-wide sequencing of tissue samples from the affected region. Our overarching goal is to identify canonical disease gene(s) that may be responsible for the birth defect.
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