06/03/11 Portland, Ore.
Graduate Studies Program student Jennifer Redig brings experience in two degree programs to bear on her research into congenital heart defects
Atrioventricular septal defects (AVSDs) are a common congenital heart malformation, occurring in 3.5 out of every 10,000 live births. Nearly twice as many children die from congenital heart disease in the United States as from all forms of childhood cancers combined.
“AVSD is characterized as a complex disease, and all the low-lying fruit has already been picked,” said Jennifer Redig, who crossed the stage of the Arlene Schnitzer Concert Hall in downtown Portland on June 6 to receive both her PhD degree and her Masters in Clinical Research. Her PhD thesis – A novel CRELD1/VEGF genetic interaction in heart disease and development – was written under the mentorship of Cheryl Maslen, PhD, Professor, Department of Molecular and Medical Genetics.
The Maslen laboratory tests genes that are known to be important in mouse heart development for their relevance in human heart development. “It’s a significant challenge that there are no national depositories for this disease,” said Dr. Redig. “The Maslen laboratory’s case-collection, though, is one of the largest in the world and gives us a valuable tool.”
Dr. Redig’s thesis work includes a knock-out mouse model, which is missing the first-identified genetic risk factor for sporadic human AVSD, CRELD1, which was previously identified by the Maslen laboratory. Her thesis work includes characterizing this novel gene’s role in heart development. In addition to describing CRELD1’s interaction with other putative genetic risk factors, her results have established for the first time that cardiac epithelial cells deficient for CRELD1 have an enhanced response to vascular endothelial growth factor (VEGF).
This novel interaction has particular significance given the known roles of these molecules in heart development, and may explain the developmental origins of a subset of sporadic AVSD cases. Dr. Redig has presented her work at a number of conferences, including the 2010 Weinstein Cardiovascular Development Conference, held in Amsterdam, The Netherlands.
Dr. Redig is the first student from the Program in Molecular and Cellular Biosciences to graduate with both a PhD and a Masters in Clinical Research (MCR). The MCR program gave her access to important human and scientific resources that enabled her to approach the problem from many angles.
“I originally joined the MCR program in order to get a foundation in biostatistics, which I perceive as being so important in reading the available data and understanding more about what is going on,” she said. “The unanticipated benefit has been that there are many more MDs in the program than there are basic scientists. The opportunity to listen to the conversations among the MDs helps me understand the human element that biostatistics cannot teach. I have no patient experience, but hearing these conversations and shadowing genetic counselors has helped me put a human face on the disease I am studying.”
Dr. Redig’s strong background in molecular biology, with the additional experience in human investigations provided by the MCR program, has enabled her to walk the fine line between the basic and clinical sciences with more confidence. “However, that fine line is getting bigger and broader, and the MCR occupied a critical place in that line,” she said. “Even though I am specializing in a focused area of research, I still need to be thinking about how to make that work applicable in a clinical science setting.”
Pictured: Jennifer Redig