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THE TOP  SIX  THINGS  EVERYONE  SHOULD KNOW ABOUT GENETICS Dr. Joann Boughman, PhD Executive Vice President, ASHG
THE TOP  SIX  THINGS  EVERYONE  SHOULD KNOW ABOUT GENETICS: <ul><li>Laws of Inheritance   </li></ul><ul><li>Genes, DNA and...
Gene transmission <ul><li>Genes come in pairs </li></ul><ul><ul><ul><li>The puppy story </li></ul></ul></ul><ul><li>One fr...
Gene transmission <ul><li>Genes come in pairs </li></ul><ul><li>One from Mom & one from Dad </li></ul><ul><li>A gene is as...
Dominant inheritance
Recessive inheritance
Recessive disorders and traits <ul><li>Cystic fibrosis </li></ul><ul><li>Tay-Sachs disease </li></ul><ul><li>Sickle cell a...
Complex Traits <ul><li>Common disorders: </li></ul><ul><ul><li>Diabetes </li></ul></ul><ul><ul><li>Heart Disease </li></ul...
THE TOP  SIX  THINGS  EVERYONE  SHOULD KNOW ABOUT GENETICS: <ul><li>Laws of Inheritance  </li></ul><ul><li>Genes, DNA and ...
 
 
THE TOP  SIX  THINGS  EVERYONE  SHOULD KNOW ABOUT GENETICS: <ul><li>Laws of Inheritance  </li></ul><ul><li>Genes, DNA and ...
 
Mutations <ul><li>A mutation is a change in the DNA </li></ul><ul><li>Mutations in germ cells can be passed on  </li></ul>...
<ul><li>Laws of Inheritance  </li></ul><ul><li>Genes, DNA and Cells </li></ul><ul><li>Genetic Stability </li></ul><ul><li>...
Genes and Environment <ul><li>Genetic makeup is constant </li></ul><ul><li>Genes are NOT deterministic </li></ul><ul><li>E...
<ul><li>Laws of Inheritance  </li></ul><ul><li>Genes, DNA and Cells </li></ul><ul><li>Genetic Stability </li></ul><ul><li>...
Family History <ul><li>Assessing your family health history is the MOST IMPORTANT genetic test! </li></ul><ul><li>It is al...
<ul><li>To Draw Your Family Tree </li></ul><ul><li>Use this or another guide to draw a tree of your own that represents (a...
Grandfather Grandmother Father Mother You Sister Brother Niece Nephew Aunt Uncle Half-sister (same mother, different fathe...
Pedigree guides <ul><li>GA or ASHG website </li></ul><ul><ul><li>Multiple guides available </li></ul></ul><ul><li>My famil...
 
 
Things to Remember for #’s 7-8 <ul><li>Genetics important to  everyone </li></ul><ul><li>Building partnerships to advance ...
Genetics  <ul><li>Important to everyone </li></ul><ul><li>All consumers/patients  </li></ul><ul><ul><ul><li>Your family hi...
Building Partnerships <ul><li>What is ASHG’s Role in Genetics? </li></ul><ul><li>Annual Meetings /  AJHG  Journal </li></u...
MOST IMPORTANT OF ALL: <ul><li>Remember to take into account: </li></ul><ul><li>PERSPECTIVE  &  CONTEXT </li></ul>
 
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Transcript of "THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS "

  1. 1. THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS Dr. Joann Boughman, PhD Executive Vice President, ASHG
  2. 2. THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS: <ul><li>Laws of Inheritance </li></ul><ul><li>Genes, DNA and Cells </li></ul><ul><li>Genetic Stability </li></ul><ul><li>Genetic Variation </li></ul><ul><li>Genes and Environment </li></ul><ul><li>Family Health History </li></ul>
  3. 3. Gene transmission <ul><li>Genes come in pairs </li></ul><ul><ul><ul><li>The puppy story </li></ul></ul></ul><ul><li>One from Mom & one from Dad </li></ul><ul><li>A gene is as instruction </li></ul><ul><li>A dominant gene takes only 1 copy to express </li></ul><ul><li>A recessive gene takes 2 copies or double dose </li></ul><ul><li>Complex traits require multiple genes </li></ul>
  4. 4. Gene transmission <ul><li>Genes come in pairs </li></ul><ul><li>One from Mom & one from Dad </li></ul><ul><li>A gene is as instruction </li></ul><ul><li>A dominant gene takes only 1 copy to express </li></ul><ul><li>A recessive gene takes 2 copies or double dose </li></ul><ul><li>Complex traits requires multiple genes </li></ul>
  5. 5. Dominant inheritance
  6. 6. Recessive inheritance
  7. 7. Recessive disorders and traits <ul><li>Cystic fibrosis </li></ul><ul><li>Tay-Sachs disease </li></ul><ul><li>Sickle cell anemia </li></ul><ul><li>Metabolic disorders </li></ul>
  8. 8. Complex Traits <ul><li>Common disorders: </li></ul><ul><ul><li>Diabetes </li></ul></ul><ul><ul><li>Heart Disease </li></ul></ul><ul><ul><li>Psychiatric disorders </li></ul></ul>
  9. 9. THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS: <ul><li>Laws of Inheritance </li></ul><ul><li>Genes, DNA and Cells </li></ul><ul><li>Genetic Stability </li></ul><ul><li>Genetic Variation </li></ul><ul><li>Genes and Environment </li></ul><ul><li>Family Health History </li></ul>
  10. 12. THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS: <ul><li>Laws of Inheritance </li></ul><ul><li>Genes, DNA and Cells </li></ul><ul><li>Genetic Stability </li></ul><ul><li>Genetic Variation </li></ul><ul><li>Genes and Environment </li></ul><ul><li>Family Health History </li></ul>
  11. 14. Mutations <ul><li>A mutation is a change in the DNA </li></ul><ul><li>Mutations in germ cells can be passed on </li></ul><ul><li>Mutations can be </li></ul><ul><ul><li>Undetectable or neutral </li></ul></ul><ul><ul><li>Variants </li></ul></ul><ul><li>Changes are the source of variations </li></ul><ul><ul><li>The story of the judges </li></ul></ul>
  12. 15. <ul><li>Laws of Inheritance </li></ul><ul><li>Genes, DNA and Cells </li></ul><ul><li>Genetic Stability </li></ul><ul><li>Genetic Variation </li></ul><ul><li>Genes and Environment </li></ul><ul><li>Family Health History </li></ul>THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS:
  13. 16. Genes and Environment <ul><li>Genetic makeup is constant </li></ul><ul><li>Genes are NOT deterministic </li></ul><ul><li>Environment is extremely important </li></ul><ul><ul><ul><li>The coffee cup story </li></ul></ul></ul>
  14. 17. <ul><li>Laws of Inheritance </li></ul><ul><li>Genes, DNA and Cells </li></ul><ul><li>Genetic Stability </li></ul><ul><li>Genetic Variation </li></ul><ul><li>Genes and Environment </li></ul><ul><li>Family Health History </li></ul>THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS:
  15. 18. Family History <ul><li>Assessing your family health history is the MOST IMPORTANT genetic test! </li></ul><ul><li>It is also the EASIEST and CHEAPEST way to assess your disease risk. </li></ul><ul><ul><li>It’s not difficult to create a family tree and it costs nothing . </li></ul></ul><ul><ul><li>Anyone can use the free online tools provided by organizations such as: </li></ul></ul><ul><ul><ul><li>ASHG </li></ul></ul></ul><ul><ul><ul><li>U.S. Surgeon General </li></ul></ul></ul><ul><ul><ul><li>Genetic Alliance </li></ul></ul></ul>
  16. 19. <ul><li>To Draw Your Family Tree </li></ul><ul><li>Use this or another guide to draw a tree of your own that represents (and records) your family’s medical history </li></ul><ul><li>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. </li></ul><ul><ul><ul><li>Birth defects </li></ul></ul></ul><ul><ul><ul><li>Diabetes </li></ul></ul></ul><ul><ul><ul><li>Cancer (list specific Hearing loss </li></ul></ul></ul><ul><ul><ul><li>Heart disease </li></ul></ul></ul><ul><ul><ul><li>Multiple miscarriages </li></ul></ul></ul><ul><ul><ul><li>Physical abnormalities </li></ul></ul></ul><ul><ul><ul><li>Psychiatric disorders </li></ul></ul></ul><ul><ul><ul><li>Stroke </li></ul></ul></ul>
  17. 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
  18. 21. Pedigree guides <ul><li>GA or ASHG website </li></ul><ul><ul><li>Multiple guides available </li></ul></ul><ul><li>My family history story </li></ul>
  19. 24. Things to Remember for #’s 7-8 <ul><li>Genetics important to everyone </li></ul><ul><li>Building partnerships to advance genetic research, education and advocacy is KEY! </li></ul>
  20. 25. Genetics <ul><li>Important to everyone </li></ul><ul><li>All consumers/patients </li></ul><ul><ul><ul><li>Your family history story </li></ul></ul></ul><ul><ul><ul><li>Your medical history </li></ul></ul></ul><ul><li>Scientists and researchers </li></ul>
  21. 26. Building Partnerships <ul><li>What is ASHG’s Role in Genetics? </li></ul><ul><li>Annual Meetings / AJHG Journal </li></ul><ul><li>Advisory Boards & Committees </li></ul><ul><li>Advocacy partnerships </li></ul><ul><ul><li>Coalition for Genetic Fairness </li></ul></ul><ul><ul><li>Genetic Alliance </li></ul></ul><ul><li>Education & Community Outreach Projects </li></ul><ul><ul><li>Education programs for teachers & students K-12 </li></ul></ul><ul><ul><li>Family History </li></ul></ul><ul><ul><li>See www.ashg.org for more… </li></ul></ul>
  22. 27. MOST IMPORTANT OF ALL: <ul><li>Remember to take into account: </li></ul><ul><li>PERSPECTIVE & CONTEXT </li></ul>
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