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Human Heredity, the Environment and Disease: Nature and Nurture

Human Heredity, the Environment and Disease: Nature and Nurture National Human Genome Research Institute Emily L. Harris, Ph.D., M.P.H. Epidemiologist, Office of Population Genomics National Human Genome Research Institute May 1, 2007 National Institutes of Health

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Human Heredity, the Environment and Disease: Nature and Nurture

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  1. Human Heredity, the Environment and Disease: Nature and Nurture National Human Genome Research Institute Emily L. Harris, Ph.D., M.P.H.Epidemiologist, Office of Population Genomics National Human Genome Research Institute May 1, 2007 National Institutes of Health U.S. Department of Health and Human Services

  2. Nature and Nurture: Causal models & inferences from studying populations

  3. A Continuum of Causation Genes (or nature) Environment (or nurture)

  4. Height AND

  5. Nature and Nurture: Causal models & inferences from studying populations Question: What causes the differences in height among individuals?

  6. Height AND

  7. Height AND Nutrition (environment)

  8. Height AND

  9. Height AND Genes

  10. Height AND

  11. Height AND Genes & Environment

  12. Nature and Nurture: Causal models & inferences from studying populations Question: What causes the differences in height among individuals? Conclusion: Depends on the population(s) studied.

  13. Nature and Nurture: Multifactorial models in complex diseases Example: Cancer

  14. Most Cancer Is NOT Inherited All Breast Cancer Patients Known Inherited Factor Unknown Factor(s)

  15. Chemical Bases in DNA Gene Chemical bases DNA molecule (chromosome) A T C G

  16. Altered DNA->Altered Protein Cell membrane DNA Nucleus Chain of amino acids DNA bases mRNA Gene Protein Ribosome

  17. Many Mutations Lead to Cancer Normal Cell First Mutation Second Mutation Third Mutation Malignant Cells Fourth or Later Mutation

  18. Most Cancer Is NOT Inherited All Breast Cancer Patients Known Inherited Factor Unknown Factor(s)

  19. Factors affectingCancer Development & Progression • Oncogenes (cancer promoting) • Tumor suppressor genes • Carcinogen metabolism genes • Immune surveillance for abnormal cells

  20. Some Factors affectingCancer Development & Progression • Oncogenes (cancer promoting) • Tumor suppressor genes • E.g., DNA repair proficiency • Carcinogen metabolism genes • Immune surveillance for abnormal cells

  21. DNA Repair & Cell Pathology Author: Harold Brenner

  22. Lifespan-influencing Genes& DNA Repair Author: Harold Brenner

  23. A Continuum of Causation Genes (or nature) Environment (or nurture)

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