THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS
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THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS

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  • 1. THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS Dr. Joann Boughman, PhD Executive Vice President, ASHG
  • 2. THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS:
    • Laws of Inheritance
    • Genes, DNA and Cells
    • Genetic Stability
    • Genetic Variation
    • Genes and Environment
    • Family Health History
  • 3. Gene transmission
    • Genes come in pairs
        • The puppy story
    • One from Mom & one from Dad
    • A gene is as instruction
    • A dominant gene takes only 1 copy to express
    • A recessive gene takes 2 copies or double dose
    • Complex traits require multiple genes
  • 4. Gene transmission
    • Genes come in pairs
    • One from Mom & one from Dad
    • A gene is as instruction
    • A dominant gene takes only 1 copy to express
    • A recessive gene takes 2 copies or double dose
    • Complex traits requires multiple genes
  • 5. Dominant inheritance
  • 6. Recessive inheritance
  • 7. Recessive disorders and traits
    • Cystic fibrosis
    • Tay-Sachs disease
    • Sickle cell anemia
    • Metabolic disorders
  • 8. Complex Traits
    • Common disorders:
      • Diabetes
      • Heart Disease
      • Psychiatric disorders
  • 9. THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS:
    • Laws of Inheritance
    • Genes, DNA and Cells
    • Genetic Stability
    • Genetic Variation
    • Genes and Environment
    • Family Health History
  • 10.  
  • 11.  
  • 12. THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS:
    • Laws of Inheritance
    • Genes, DNA and Cells
    • Genetic Stability
    • Genetic Variation
    • Genes and Environment
    • Family Health History
  • 13.  
  • 14. Mutations
    • A mutation is a change in the DNA
    • Mutations in germ cells can be passed on
    • Mutations can be
      • Undetectable or neutral
      • Variants
    • Changes are the source of variations
      • The story of the judges
  • 15.
    • Laws of Inheritance
    • Genes, DNA and Cells
    • Genetic Stability
    • Genetic Variation
    • Genes and Environment
    • Family Health History
    THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS:
  • 16. Genes and Environment
    • Genetic makeup is constant
    • Genes are NOT deterministic
    • Environment is extremely important
        • The coffee cup story
  • 17.
    • Laws of Inheritance
    • Genes, DNA and Cells
    • Genetic Stability
    • Genetic Variation
    • Genes and Environment
    • Family Health History
    THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS:
  • 18. Family History
    • Assessing your family health history is the MOST IMPORTANT genetic test!
    • It is also the EASIEST and CHEAPEST way to assess your disease risk.
      • It’s not difficult to create a family tree and it costs nothing .
      • Anyone can use the free online tools provided by organizations such as:
        • ASHG
        • U.S. Surgeon General
        • Genetic Alliance
  • 19.
    • To Draw Your Family Tree
    • Use this or another guide to draw a tree of your own that represents (and records) your family’s medical history
    • Collect information from your family members about disorders and medical conditions such as those listed below. Also note the person’s age at diagnosis, if known.
        • Birth defects
        • Diabetes
        • Cancer (list specific Hearing loss
        • Heart disease
        • Multiple miscarriages
        • Physical abnormalities
        • Psychiatric disorders
        • Stroke
  • 20. Grandfather Grandmother Father Mother You Sister Brother Niece Nephew Aunt Uncle Half-sister (same mother, different father) Grandfather Grandmother Mexico Pregnancy Loss 8 weeks England and Germany Uncle Adopted First cousins Twins Non-identical 22 18 24 2 6 months High blood pressure High cholesterol 60’s Colon cancer 70’s Breast cancer (diagnosed 68) 65 Heart attack 27 50 49 85 47 62 30’s-40’s 3 2 First cousin 23 47 20 Club foot
  • 21. Pedigree guides
    • GA or ASHG website
      • Multiple guides available
    • My family history story
  • 22.  
  • 23.  
  • 24. Things to Remember for #’s 7-8
    • Genetics important to everyone
    • Building partnerships to advance genetic research, education and advocacy is KEY!
  • 25. Genetics
    • Important to everyone
    • All consumers/patients
        • Your family history story
        • Your medical history
    • Scientists and researchers
  • 26. Building Partnerships
    • What is ASHG’s Role in Genetics?
    • Annual Meetings / AJHG Journal
    • Advisory Boards & Committees
    • Advocacy partnerships
      • Coalition for Genetic Fairness
      • Genetic Alliance
    • Education & Community Outreach Projects
      • Education programs for teachers & students K-12
      • Family History
      • See www.ashg.org for more…
  • 27. MOST IMPORTANT OF ALL:
    • Remember to take into account:
    • PERSPECTIVE & CONTEXT
  • 28.