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  • In 2003 scientists in the Human Genome Project achieved a long-sought goal by obtaining the DNA sequence of the 3.2 billion base pairs (the order of As, Ts, Cs, and Gs) making up the human genome. The DNA sequence spells out the exact instructions needed to maintain and reproduce a living organism – whether it’s a person, a plant, or a paramecium.   Some fascinating insights so far: -         The human genome is almost (99.9%) exactly the same in all people. -         Only 2% of the human genome contains genes, the part of DNA that encodes recipes for proteins. We don’t know what the remainder does. -         We have an estimated 30,000-40,000 genes; the functions remain unknown for more than half of these. -         Almost half of all proteins predicted from human genes share similarities with fruit flies and worms, underscoring the unity of life.   -         MUCH remains to be learned!

Georgia Wiesner's Powerpoint Handout Georgia Wiesner's Powerpoint Handout Presentation Transcript

  • Georgia Wiesner, MD CREC June 20, 2007
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  • GAT A CAATGCATCATATG T ATCAGATGCAATA T ATCATTG T ATCATG T ATCATG T ATCATG T ATCATG T ATCATG T ATCATG T CTCCAGATGC T ATGGATCTTATG T ATCATG T ATCATG T ATCATG T ATGATG T ATC
  • Genetic Variation
    • Chromosomal
      • Duplications/Deletions
    • Sequence variation
      • Single mutation in gene
    • SNP
      • S ingle N ucleotide P olymorphism
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  • Linkage analysis Graphics from NCI Understanding Gene Testing
  • Why SNPs in Mapping?
    • Numerous
    • Stable
    • Easy to score
    • In genes (sometimes)
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  • GAT A CAATGCATCATA GATGCAATG T ATCATA GATGC T ATGCATCATA
  • Human SNPs
    • 2 chromosomes differ ~1/1,000 bases
    • More chromosomes more sites
    • Potential for 30 million variable sites
    • Expanded type of study design for genetic studies
  • Colon Cancer Colon Cancer Unaffected Unaffected SNP A SNP B
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  • SNP Genotyping Tools 330,000-650,000 SNPs per array Affymetrix Illumina Courtesy, S. Gabriel NHGRI
  • Increase in Genetic Information
    • High throughput technologies have increased ability to generate genotypes
    • Lead to increase in “collections” of data:
      • Independent lab studies
      • Consortium studies: HapMap
      • “ Open source”
      • Forensic
    • Even small studies can hold large datasets
      • CNSS study generated 1.8M genotypes
  • Sources of Genetic Information
    • Not only nuclear DNA!
      • RNA
      • Protein
      • Mitochondrial
    • Many tissues- all cell types
      • Blood
      • Skin
      • Paraffin samples after surgery
    • Family History
  • Genetic Information- who cares?
    • Permanent
    • Personal
    • Powerful
    • (Potentially) Predictive
  • Genetic Information
    • Permanent
      • DNA is stable and easily stored
      • Database genetic information
      • Confidential
    • Personal
    • Powerful
    • (Potentially) Predictive
  • Genetic Information
    • Permanent
    • Personal
      • Individual Information
      • Family Information
    • Powerful
    • (Potentially) Predictive
  • Genetic Information
    • Permanent
    • Personal
    • Powerful
      • Genetic code of life
      • Linkage to health and disease
      • Links an individual to family
        • Paternity/Maternity
      • Forensic
    • (Potentially) Predictive
  • Genetic Information
    • Permanent
    • Personal
    • Powerful
    • (Potentially) Predictive
      • Susceptibility markers disease
      • Diagnostic tests
  • ELSI: Ethical, Legal, and Social Issues • Privacy and confidentiality of genetic information . • Fairness in the use of genetic information by insurers, employers, courts, schools, adoption agencies, and the military, among others. • Psychological impact, stigmatization, and discrimination due to an individual’s genetic differences. • Reproductive issues including adequate and informed consent and use of genetic information in reproductive decision making. • Clinical issues including the education of doctors and other health-service providers, people identified with genetic conditions, and the general public about capabilities, limitations, and social risks; and implementation of standards and quality‑control measures. U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
  • ELSI Issues (cont.) • Uncertainties associated with gene tests for susceptibilities and complex conditions (e.g., heart disease, diabetes, and Alzheimer’s disease). • Fairness in access to advanced genomic technologies . • Conceptual and philosophical implications regarding human responsibility, free will vs genetic determinism, and concepts of health and disease. • Health and environmental issues concerning genetically modified (GM) foods and microbes. • Commercialization of products including property rights (patents, copyrights, and trade secrets) and accessibility of data and materials. U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
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  • Individual Family Society