At Boston Children’s Hospital, our care is informed by our research; our discoveries both in the clinic and the laboratory strengthen the care we provide at each child's bedside.
CLINICAL AND TRANSLATIONAL RESEARCH
Ongoing Clinical Research Projects
- Outcomes of patients with bladder exstrophy following complete primary repair
- Growth and development of the bladder following repair
- Imaging of the pelvis in patients with bladder exstrophy using Magnetic Resonance (MRI)
- Need for bladder neck reconstruction in children that undergo complete primary repair of exstrophy (CPRE)
- Urodynamics (bladder function testing) and metabolic characteristics of boys and girls with bladder exstrophy
- Measuring the quality of life in children and parents dealing with bladder exstrophy
Genetics of Exstrophy Epispadias Complex
While the underlying causes of the Exstrophy Epispadias Complex remain unknown, strong evidence exists that genetic factors play an important role in the development of the condition. With recent advances in gene sequencing technologies, it is now possible to rapidly sequence the entire genome of affected patients and non-affected family members. In collaboration with Boston Children’s Manton Center for Orphan Disease Research, we have an ongoing genetic research study which aims to collect blood or cheek swab samples from patients and family members with the goal of identifying genetic causes of the condition.
BASIC SCIENCE RESEARCH
Despite the clinical significance, very little is known about the molecular basis of embryology and etiology of the genitourinary tract. Our laboratory recently identified a transcription factor that is only expressed in the cells surrounding the affected region of the Exstrophy Epispadias Complex development. This is the first molecular evidence suggesting that the genitourinary tract is a separate developmental entity governed by a unique set of embryonic regulators.
At Boston Children’s Hospital, we are working to create functional “off the shelf” tissue in the laboratory. We are working with silk biomaterials that have demonstrated an extraordinary capacity to support bladder tissue regeneration in large animal models. Our next step is to test our silk tissue-replacement constructs in an animal bladder exstrophy model, work that has recently been awarded a large research grant. Our team will create bladder exstrophy in fetal sheep and then we will repair the bladder postnatally with our silk biomaterial scaffolds. In addition to our work with silk biomaterials, we are studying mouse and human pluripotent stem cells, both embryonic stem cells and induced pluripotent stem cells, for the production of healthy bladder and other urological cells. It is our expectation that our efforts will yield new and exciting options for our patients with bladder exstrophy and other urological diseases.