Application of Genetic Tools to Clinical and Translational Research. Thomas A. Pearson, MD, PhD University of Rochester School of Medicine Visiting Scientist, NHGRI. TAProots Vineyard Keuka Lake, NY. Concord Grapes. One year old French hybrid grapes. Vanessa Seedless Grapes.
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Thomas A. Pearson, MD, PhD
University of Rochester
School of Medicine
Visiting Scientist, NHGRI
a. Genetic Screening/susceptibility assessment
Genome structure and function
Exons, introns Regulatory elements
Novel mechanisms of disease
Proteins as therapeutics
* Report of the Advisory Committee to the Surgeon General, 1964
*Easton, DF, et al. Nature 2997; 447: 1087-1093
Easton DF, et al. Nature 2007; 447: 1087-1093
*Merideth MA, et. al. NEJM 2008; 358: 592-604
*Gundmundsson J, et al. Nat Gen 7/1/07
“At its most basic, personalized medicine refers to using information about a person’s genetic make-up to tailor strategies for detection, treatment, and prevention of disease”
Swanson JR, Pearson TA. Am J Prev Med 2001; 20:50-55
Larson, G. Coronary Heart DiseaseThe Complete Far Side. 2003.
Nussbaum R. Thompson and Thompson’s Medical Genetics, 2007
1. Condition is frequent to justify cost
2. Detection would otherwise not occur at early enough stage
3. Early treatment prevents morbidity
4. Treatment is available
5. Families and personnel available to perform screening, inform about results, and institute treatment.
Faero WG, Guttmarker AE, Collins FS. JAMA 2008; 299
Outcome Measures: Clinical Events, Costs, etc.
*Offit K. JAMA 2008, 299; 1353-4
Larson, G. Preventive Medicine*The Complete Far Side. 2003.
Antoniou, et al. ASHG 2003; 72: 1117
Burke W, Jackson Laboratory 7/26/08
Scheuner MT, et al. JAMA 2008; 299: 1320-1334
Pharmacogenetics 2007-2008: The study of differences in drug response due to allelic variation in genes affecting drug metabolism, efficacy, and toxicity.
BurroughsVJ, et al., cited in Nussbaum R,
Thompson and Thompson’s Genetic Medicine, 2007
To make available the genotype and phenotype datasets as rapidly as possible to a wide range of scientific investigators.
Data repository (NCBI, dbGAP)
Data submission and protection
Courtesy S. Chanock, NCi