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In quest for new therapies, clinician-scientist team unlocks hidden information in human genome
Date:8/11/2011

The work of molecular biologist Joseph M. Miano, Ph.D., and clinician Craig Benson, M.D., seems worlds apart: Miano helps head the Aab Cardiovascular Research Institute and Benson is chief resident of the combined Internal Medicine and Pediatrics program at the University of Rochester Medical Center. Though the chance of their professional paths crossing was highly unlikely, shared enthusiasm, intense curiosity and a little detective work led to a unique collaboration and important new insights on the inner workings of the human genome.

Together, Miano and Benson created a model resource that not only identifies but also outlines the function of some of the most common mutations in the human genome. At a time when research linking genetic mutations to disease risk is booming a result of the sequencing of the human genome in the early 2000's the clinician-scientist team is pursuing what they think is an even more significant path: They are zeroing in on how certain mutations actually work, information they believe will help guide the development of new prevention and treatment options.

"It is valuable to know when someone is at greater risk for disease, but that information doesn't explain the mechanism of disease or give any insight into what we might be able to do therapeutically for patients," said Benson, lead author of the new study published in Physiological Genomics. "Our goal is to help scientists figure out what's happening at the molecular level so they can determine the best way to potentially treat disease. As a clinician, that is what is most important for me, understanding how we can improve patient care."

Benson, who came to Rochester for medical school in 2003, stayed for a medicine-pediatrics residency and participated in the program's research track, which allowed him some time to conduct research. With an undergraduate degree in business and computer information systems and a master's degree in health in
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Contact: Emily Boynton
emily_boynton@urmc.rochester.edu
585-273-1757
University of Rochester Medical Center
Source:Eurekalert

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