The Baker Laboratory focuses on identifying the causes of birth defects or diseases of the urogenital tract, particularly:
- Disorders of sexual development
- Prune belly syndrome
- Female reproductive anomalies
- Pediatric kidney stones
Our ultimate goal is to design better treatments for these conditions.
Past genetic testing has not revealed genetic components to many urogenital diseases – in fact, test results often appear to be normal. However, we believe that with new genetic tests, which are much more powerful and higher resolution, it's worthwhile to search again for underlying genetic problems.
This research requires a stepwise approach:
- We need patients and their families to participate in our research. Most studies involve only an office visit and a small blood sample. There is no cost to participate.
- Using ‘next-generation sequencing’ and comparative genomic hybridization DNA tests, we attempt to identify the genes and their clinical human mutations responsible for these disorders.
- We use biochemical and cell-biology methods, and create models, to study the gene and the mutation further to show that it is functionally impaired.
- We see if we can correct or improve the genetic problem with therapies designed specifically for the disorder.