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OHSU Research Week is our university-wide event celebrating research the week of May 20-24, 2013. Research Week includes oral and poster presentations, career development workshops, keynote speakers, receptions, awards and more! Use this site to navigate the Research Week schedule. To learn more, visit the OHSU Research Week homepage.

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Thursday, May 23 • 4:30pm - 5:30pm
Keynote - Peter Byers

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Title: “Getting to Recessive: Making the Rare Common”

Peter H. Byers, M.D., professor of medicine and pathology, University of Washington School of Medicine, has been invited to speak at OHSU Research Week by the Oregon Clinical and Translational Research Institute.

The wealth of genetic information that has emerged in the last decade poses a challenge for clinicians: How can we synthesize this information with our clinical insights derived from practice? The last decade has introduced many new tools that allow us to quickly understand human disease, especially in those with genetic disorders. The choice of tools to study the genome is critical:  as we study more, we find more genes but we also have the chance to explain the enormous clinical variation that we can see within and among families with the same major mutation.  More than 95 percent of people who have the genetic bone disorder osteogenesis imperfecta have mutations that alter one copy of one of the two genes, COL1A1 and COL1A2, that encode the chains of type I collagen, the most abundant protein in bone (and in many other tissues). But what about the other five percent?  A variety of different approaches–blind luck, analysis of candidate genes, examination of pathway candidates, and exome sequence analysis in small consanguinous families–have identified another 11 genes that fall into several functional categories. These fascinating genes include some that may drive osteoblast differentiation, some that modify collagens or assist in their maturation, and yet others that have still undefined pathways in which they work. Identifying mutations is only the beginning of the journey to complete understanding of how a single nucleotide change in the genome can make the difference between life and death and to unearthing the fundamental biology of our development, growth, and normal function: the discerning clinician must serve as a guide to this journey.

Dr. Byers brings sophisticated molecular genetics to solve important clinical questions. As both a clinical and molecular geneticist, he has devoted his career to understanding the molecular pathogenesis of inherited disorders of connective tissue. He has focused on collagen genes and the enzymes involved in the post-translational modification of collagens that cause rare but dramatic skeletal diseases. His translational insights have transformed the field of inherited connective tissue disease. In addition, he has been the editor of the American Journal of Human Genetics, the president of the American Society of Human Genetics, and the president of the American Board of Medical Genetics.

Thursday May 23, 2013 4:30pm - 5:30pm
OHSU Auditorium 3181 SW Sam Jackson Park Road, Portland, OR 97239

Attendees (3)