Our Mission:
Exstrophy
Research
To serve as a resource for information on current, ongoing and future research in the field of Bladder Exstrophy.
Our Mission
The Bladder Exstrophy Research Foundation is a non-profit 501(c)3 public charity dedicated to raising funds for research related to the cause and treatment of bladder exstrophy, a congenital birth defect. The Foundation also serves as a resource for information on current, ongoing and future research in this area.
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What is Bladder Exstrophy?
Bladder exstrophy is a rare, complex congenital birth defect that involves abnormalites of multiple body systems and organs including the lower abdominal wall, bladder, pelvis, genitalia, rectum and anus. The condition is thought to occur due to abnormal development of the cloacal membrane during early fetal growth. This malformation results in protrusion of the bladder through the lower abdominal wall.
Incidence rates for bladder exstrophy have been reported to occur in approximately one of every 30,000 live births, with an estimated 2:1 male to female ratio. Current methods for gathering and reporting such figures vary however, so actual occurrence may differ from that previously reported.
Bladder exstrophy is a life altering condition requiring extensive surgical intervention, typically beginning shortly after birth when the child is just a few days old. Surgeries can be numerous over the course of a lifetime depending on severity, co-existing conditions and/or complications. Goals of surgical treatment include, but are not limited to: closure of the bladder and abdominal wall, realignment of the pelvis, preservation of kidney and sexual function, satisfactory appearance of external genitalia, and urinary continence. It is important to note that a successful initial closure combined with overall growth and ultimate size of the bladder are key factors in determing continence; therefore, proper care and treatment by a surgeon specializing in exstrophy cannot be emphasized enough.
In addition to the physical aspects of bladder exstrophy, there are social and emotional issues that may arise due to the intimate nature and complexity of the condition. Steps should be taken to account for these needs as well.
Continued research is critical for the advancement of care for this condition. Research initiatives focusing on cutting edge treatment options and identification of causative factors including genetic and environmental sources are key towards meeting this goal.
Leading Institutions Specializing in Bladder Exstrophy
Johns Hopkins Hospital
Children's Hospital Boston
http://www.childrenshospital.org/clinicalservices/Site1696/mainpageS1696P0.html
Seattle Children's Hospital
Search for the latest Bladder Exstrophy research articles from the following publication links:
Journal of Pediatric Urology
Journal of Urology
Clinical Trials
https://clinicaltrials.gov/ct2/results?cond=Bladder+Exstrophy&term=&cntry=&state=&city=&dist=
U.S. National Library of Medicine, National Institutes of Health
Research Grants Funded by your donations
2015 Funded Research Projects:
Identification of Genetic Causes of Human Bladder Exstrophy Birth Defect
Boston Children's Hospital
Boston, MA
The 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.
2013 Funded Research Projects:
Exstrophy-Epispadius Complex Bladder Smooth Muscle Cells in Culture: Calcium Channels, Growth Factors and Contraction
The Johns Hopkins Hospital
Baltimore, MD
2012 Funded Research Projects:
Characterization of Exstrophy Bladder Smooth Muscle Cells In Culture
The Johns Hopkins Hospital
Baltimore, MD
Eventual continence in bladder exstrophy is determined in part by bladder capacity. At this time, it remains unexplained why some bladders grow better than others. Exstrophy bladder smooth muscle differs from normal bladder smooth muscle at a tissue level and at a molecular level in gene expression. Preliminary studies from Johns Hopkins have suggested that exstrophy bladder smooth muscles cells may have increased levels of transforming growth factor-beta (TGF-beta), which regulates composition of the extracellular matrix, and impacts function and proliferation in multiple cell types. Similarly, preliminary data have shown that alpha-actin, a muscle-specific protein responsible for muscle contraction, may also be expressed at different levels in bladder exstrophy compared to controls. This project will examine the RNA expression of TGF-b through RT-PCR. Additionally, TGF-beta protein concentration and down-stream signaling proteins will be measured quantitatively through Western Blot and Elisa analysis. Other muscle-specific structural and dynamic proteins will be evaluated by Western Blot analysis. This study hopes to further identify why bladder exstrophy cells behave differently compared to controls. Doing so may elevate understanding of the pathogenesis of bladder exstrophy, provide further insight into the prognosis and treatment of the disease, and perhaps will ultimately lead to improvements in tissue engineering.