SMHS Epidemiology

Scientific Methods for Health Sciences - Epidemiology

Overview:

After a general introduction to the filed of Epidemiology, students can have a basic idea of the language of Epidemiology. In this course, we want to identify and describe the population patterns of health-related risk factors and health-related outcomes in terms of persons, place and time. We are interested in exploring current major public health issues and try to identify and evaluate the main determinants of such public health issues (e.g. demographic, genetic, infectious, behavioral, and social). With all the concepts and methodologies of analysis in Epidemiology, application would be the next step. Here we examine and apply analytical approaches to data from different epidemiologic study designs (e.g., cross-sectional, cohort, randomized studies) and to critically appraise epidemiological findings.

Motivation:

Goals of this course:

• To understand basic features of the human genome and the distribution of mutations among individuals.
• To understand the principles of segregation and linkage as they apply to human pedigree analysis and the identification of genetic variations associated with disease.
• To learn population and quantitative genetic concepts that are necessary in order to study the relationship between genetic variation and disease variation in populations.
• To learn about prototypical gene-disease relationships that are important to public health.
• To understand the key issues in genetic testing in populations.
• To understand the genetic complexity of common chronic disease.
• To have a basic understanding of the importance and biological basis of epigenetic mechanisms, gene-environment interactions, and gene-gene interactions.

Theory

• Public Heath Genetics: some current and potential applications of genome research include:
  • Molecular medicine: improved diagnosis of disease; earlier detection of genetic predispositions to disease; rational drug design; gene therapy and control systems for drugs; pharmacogenomics “custom drugs”.
  • Microbial genomics: new energy sources (biofuels); environmental monitoring to detect pollutants; protection from biological and chemical warfare; safe, efficient toxic waste cleanup.
  • Risk assessment: assess health damage and risks caused by radiation exposure, include low-dose exposures; assess health damage and risks caused by exposure to mutagenic chemicals and cancer causing toxins.
  • Bio-archaeology, anthropology, evolution, and human migration: study evolution through germline mutations in lineages; study migration of different population groups based on X chromosome or Y chromosome; compare breakpoints in the evolution of mutations with ages of populations and historical events.
  • DNA forensics (identification): identify potential suspects whose DNA may match evidence left at crime scenes; exonerate persons wrongly accused of crimes; identify crime and catastrophe victims; establish paternity and other family relationships; determine pedigree for seed or livestock breeds.
  • Agriculture, livestock breeding, and bioprocessing: more nutritious produce; Biopesticides; healthier, more productive, disease-resistant farm animals; new environmental cleanup uses for plants like tobacco.

• The Human Genome and Mutation

• Chromosomes are highly condensed DNA:
  • Chromosomal banding pattern: condensed chromosomes can be stained to create the appearance of dark and light bands; dark bands represent regions rich in As and Ts; each band contains millions of DNA nucleotides; each chromosome has a unique banding pattern.
  • A human karyotype: depicts the entire chromosomal constitutions of a person; normal karyotypes have 46 chromosomes; we get 23 chromosomes from each parent (22 autosomes and 1 sex chromosome).
  • Chromatin: composed of DNA and proteins that are associated with the chromosomes. (1) Euchromatin: lightly condensed DNA; gene rich, often actively transcribed. (2) Heterochromatin: highly condensed DNA; often composed of repetitive DNA elements; centromeres and telomeres.
  • Centromeres: large arrays of repeated DNA sequences; spindle fibers attach during mitosis to separate sister chromatids.
  • Telomeres: arrays of repeated DNA sequences that are often thousands of bases in length; a “cap” at the end of chromosome to provide stability; due to the way that chromosomes replicated, telomeres, shorten with each cell division in human somatic cells.
  • International system for human cytogenetic nomenclature: short arms of a chromosome are labeled; long arms are labeled; chromosome bands are labeled p11, p12, etc. like a zip code; the terminal ends of the chromosomes are labeled ter; where the arms meet in the middle is the centromere.
  • Genes are located on chromosomes: there are 45 bands on chromosome 5; chromosome 5 contains 1633 genes; chromosome 5 ~ 181000000 bases long; genes are referred to by their chromosomal location.
  • Chromosomal abnormalities: there are two types of abnormalities that can occur on a chromosomal level in humans: (1) structural abnormalities – missing, extra, or rearranged genetic material on one particular chromosome; (2) numerical abnormalities – deviations in the total number of chromosomes that an individual has.

Changes in chromosome structure.

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• SOCR Home page: http://www.socr.umich.edu

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