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LINKING MOLECULES AND GENES TO CLINICAL PRACTICE: A CLOSER LOOK AT THE SPINE 2013 COMBINED SECTIONS MEETING OF THE AMERICAN PHYSICAL THERAPY ASSOCIATION San Diego, CA January 21-24, 2013 MODERATOR: Steven Wolf PT PhD FAPTA. Emory University, Atlanta, GA PRESENTERS: Allon Goldberg PT PhD. Wayne State University, Detroit Michele Crites Batti PT PhD. University of Alberta, Edmonton, Canada DESCRIPTION: Completion of the Human Genome Project and HapMap Project hold the promise of significant advancements in diagnosis and interventions for common diseases. Many conditions and impairments encountered by physical therapists have genetic underpinnings, including disease phenotypes such as stroke, arthritis, diabetes and heart disease. Less obvious is the role of genes in common impairments encountered by physical therapists. Studies show that genetic factors explain variable amounts of physical performance. The proportion of the variance in performance explained by genes may range from low (e.g. 16% for 10-meter gait speed) to high (e.g. 64% for trunk flexibility assessed as sit and reach). In Part 1 of this 2-part series on genomics, an overview of basic genomics terminology as well as the influence of genetics on common impairments and conditions encountered by physical therapists will be provided. Studies highlighting the influence of genetics on conditions such as lumbar disc degeneration and low back pain will be presented. Familial aggregation (a proxy for total genetic effects) of disc degeneration will be discussed. Information from this session will provide physical therapists with novel insights into conditions such as lumbar disc degeneration and low back pain. OBJECTIVES Upon completion of this course the participant will be able to: 1. Explain terminology commonly used in medical genetics 2. Outline the role of projects such as the Human Genome Project and HapMap Project in advancing potential to improve human health 3. Discuss the concept of human genetic variation and the influence of genetic variants on health, disease and human performance 4. Outline and discuss heritability and describe the proportion of the variance in common human performance measures that can be explained by genetic factors 5. Outline the role and influence of genetic factors on lumbar disc disease, low back pain, spinal stenosis and lumbar flexibility/ROM, including clinical implications for rehabilitation professionals

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Speaker: Allon Goldberg PT PhD Wayne State University Detroit, MI 1. Overview of genetics terminology 2. The Human Genome Project; HapMap Project; other genomics projects a. Goals/objectives b. Implications for medical science and human health 3. Variants commonly found in the human genome a. Implications/influence of genetic variants on i. health ii. disease iii. physical performance 4. What is heritability of a trait/condition/performance measure? a. Proportion of variance in the phenotype (disease; condition; performance measure) that is attributable to genes b. Heritability of common measures of physical performance i. Gait speed ii. Endurance iii. Balance iv. Grip strength

Speaker: Michele Crites Batti PT PhD University of Alberta Edmonton, Canada 1. A brief history of the dramatic shift in views on the etiology of disc degeneration and pathology 2. Heritability of: a. Lumbar disc degeneration b. Low back pain c. Lumbar flexibility/ROM d. Spinal stenosis 3. Specific genes that have been associated with lumbar disc degeneration and related conditions 4. What are the clinical implications of these studies for rehabilitation professionals?

This information is the property of the presenters and should not be copied or otherwise used without express written permission of the presenters

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REFERENCES Batti MC, Levalahti E, Videman T, Burton K, and Kaprio J. 2008. Heritability of lumbar flexibility and the role of disc degeneration and body weight. J Appl Physiol 104(2):379-385. Batti MC, Videman T, Kaprio J, Gibbons LE, Gill K, Manninen H, Saarela J, and Peltonen L. 2009. The Twin Spine Study: contributions to a changing view of disc degeneration. Spine J 9(1):47-59. Feero WG, Guttmacher AE, and Collins FS. 2010. Genomic medicine--an updated primer. N Engl J Med 362(21):2001-2011. Green ED, and Guyer MS. 2011. Charting a course for genomic medicine from base pairs to bedside. Nature 470(7333):204-213. Wagner H, Melhus H, Pedersen NL, and Michaelsson K. 2009. Heritability of impaired balance: a nationwide cohort study in twins. Osteoporos Int 20(4):577-583.

This information is the property of the presenters and should not be copied or otherwise used without express written permission of the presenters