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Introduction to Molecular Epidemiology

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Human genetics. Molecular genetics. Molecular biology ... Human genetics, molecular biology and environmental health for epidemiologists ... – PowerPoint PPT presentation

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Title: Introduction to Molecular Epidemiology


1
Introduction to Molecular Epidemiology
  • Jan Dorman, PhD
  • University of Pittsburgh
  • School of Nursing
  • jsd_at_pitt.edu

2
Revolution in Molecular Biology has Impacted
  • Science
  • Medicine
  • Society
  • Epidemiology

Molecular Epidemiology Challenge for the 21st
Century
3
Molecular Epidemiology
  • Will facilitate the ability of scientists to
    conduct etiologic research
  • Will increase our knowledge about the
    determinants of disease
  • Will contribute to the development of approaches
    for disease prevention
  • Will improve public health

4
Genetic Epidemiology
  • A science that deals with etiology,
    distribution and control of disease in families
    and with inherited causes of diseases in
    populations
  • N Morton

5
Genetic Epidemiology
  • Is based on population genetics
  • Utilizes statistical techniques to evaluate the
    genetic aspects of chronic diseases
  • Little or no emphasis on environmental risk
    factors

6
Genetic Epidemiology
  • Includes the fundamental interaction between
    genetic variation with the environment in the
    occurrence of disease
  • M Khoury

7
Genetic Epidemiology
  • Many studies are still focused on the
    identification of disease susceptibility genes
  • New SNP and haplotype maps
  • New approaches to linkage analysis
  • - High through-put molecular techniques

8
(No Transcript)
9
Genetic Epidemiology
  • Results are not generalizable to the
    population at large
  • Requires Molecular Epidemiology

10
Origins of Molecular Epidemiology
Descriptive and Analytical Epidemiology
Cancer
Infectious Diseases
11
Molecular Cancer Epidemiology
  • An approach in which advanced laboratory methods
    are used with analytical epidemiology to
    identify, at the biochemical or molecular level,
    specific exogenous agents and / or host factors
    that play a role in human cancer causation
  • F. Perera

12
Traditional Cancer Epidemiology
Exposure
Disease
Black Box
Effects of environmental exposures
13
Molecular Cancer Epidemiology
  • Use of biological markers to examine parts of a
    continuum between an initiating event and the
    development of disease

Exposure
Disease
Inside the Black Box
14
Molecular Epidemiology
Genetic Susceptibility
Exposure
Effect
Disease
Black Box
15
Molecular Epidemiology
A science that deals with the contribution of
genetic and environ-mental risk factors
identified at the molecular and biochemical
level, to the etiology, distribution and control
of disease in families and populations J. Dorman
16
Molecular Epidemiology
  • Dissolved boundaries between traditional
    epidemiology and
  • Human genetics
  • Molecular genetics
  • Molecular biology
  • Requires decisions about collecting, processing
    and storing biological specimens

17
Molecular Epidemiology
  • Requires consideration of standardization,
    analytical validity and clinical validity of
    molecular tests
  • Utilizes family study designs, as well as
    case-control and cohort studies

18
Molecular Epidemiology
  • Is not just a term that describes adding new
    techniques to epidemiology. Rather, it
    represents an opportunity to use new resolving
    power to develop theories of disease causation
    that acknowledge complex interactions in the
    health process.
  • P Schulte

19
Molecular Epidemiology is a Critical Link
  • Human Genome Project
  • Molecular Epidemiology
  • Medicine and Public Health

20
Human Genome Project and Epidemiology
  • Map and sequence 30,000 genes
  • Development of biotechnology
  • Ethical, legal and social issues
  • Map and sequence non-human genomes
  • Markers of disease and susceptibility
  • Technology for population studies
  • Screening and prevention
  • Models for disease, identify susceptibility genes

21
Objectives of Molecular Epidemiology
  • Conduct descriptive and analytical studies to
    evaluate gene / environment interactions in
    disease etiology
  • Provide risk factor-specific morbidity rates for
    purposes of education and intervention

22
Molecular Epidemiology and Disease Prevention
  • Personalized estimates of risk may empower
    susceptible individuals to intervene on
  • - Diet, lifestyle
  • - Environmental exposures
  • Targeted approaches may be more effective in
    preventing disease

23
Descriptive Epidemiology
  • Examines the distribution of disease
  • - By person, place and time
  • - Consequences to population
  • Rates are expressed as incidence and prevalence
    (i.e., morbidity rates)

24
Descriptive Molecular Epidemiology
  • Assesses effects and / or outcomes early in the
    disease process
  • Reduces heterogeneity in disease classification
  • Examines the distribution of markers of
    susceptibility or exposure

25
Analytical Epidemiology
  • Evaluates associations with potential risk
    factors
  • Host characteristics
  • Environmental exposures
  • Associations are expressed as relative risks or
    odds ratios

26
Analytical Molecular Epidemiology
  • Utilizes biological markers to replace surrogate
    measures that have been typically employed for
    traditional epidemiologic studies
  • Genetic susceptibility
  • Environmental exposures or effects

27
Environmental Risk Factors
  • Place of residence
  • Lifestyle / occupational indicators
  • Biological markers of exposure
  • - Alterations to the host genome
  • - Antibodies
  • - Infectious agents
  • More precise measure of exposure

28
Genetic Susceptibility
  • Age, race, sex, ethnic group
  • Positive family history of the disease
  • Genetic markers / susceptibility genes
  • - Protein polymorphisms
  • - DNA polymorphisms
  • More precise measure of susceptibility

29
Evaluating Genes as Effect Modifiers
  • Mutation Exposure High Risk
  • Mutation No Exposure Low Risk
  • No Mutation Exposure Low Risk
  • No Mutation No Exposure Low Risk
  • Study Disease Etiology

30
Evaluating Genes as Susceptibility Markers
  • Mutation Exposure High Risk
  • Mutation No Exposure Moderate Risk
  • No Mutation Exposure Moderate Risk
  • No Mutation No Exposure Low Risk
  • Intervene on Susceptibles

31
Risk Factor-Specific Morbidity Rates

Descriptive
Analytical
Relative risk
Absolute risk
Population attributable risk
32
Molecular Epidemiology Requires
  • Collaboration among
  • - Epidemiologists
  • - Human geneticists
  • - Environmental health scientists
  • - Health professionals
  • - Biostatisticians
  • - Basic scientists

33
Challenges for Molecular Epidemiology
  • Develop and sustain collaboration among
    individuals with different
  • - Backgrounds
  • - Training
  • - Experience
  • - Goals
  • - Language

34
Challenges for Molecular Epidemiology
  • Training
  • Human genetics, molecular biology and
    environmental health for epidemiologists and
    health professionals
  • Epidemiology and public health for human
    geneticists and basic scientists

35
Challenges forMolecular Epidemiology
  • Translations of the results of molecular
    epidemiology studies
  • Foster links with
  • - Members of the community
  • - Policy makers
  • - Educators
  • - General public

36
Revolution in Molecular Biology has Impacted
  • Science
  • Medicine
  • Society
  • Epidemiology

Molecular Epidemiology Challenge for the 21st
Century
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