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you
DNA sequencing is
becoming cheaper,
faster, and
better
Moore’s Law
Number of transistors on a chip
roughly doubles every two years
How much can your
genome tell you?

What can’t it tell you?
The $1000 genome
  Can tell you   Cannot tell you
• Parentage      • Psychology
• Ancestory      • Life history
• Risk for       • Learned behavior
  mendelian
  diseases
Your genome for $1000
Would you want to know?
DNA sequencing
is more than just
sequencing DNA
DNA -> RNA -> Protein
   (The Central Dogma)
Cancer is caused by DNA
 mutations
Cancer is a word for
 thousands of diseases
Cancer

   vs.

Evolution
Pharmacogenomics
Disease is a stage in a
dynamic process, not a
static point in time
Personalized,
 predictive,
 prevention
DNA is what makes you
who you are, but you are a
lot more than just your DNA
DNA is extremely useful so
take advantage of it. Don’t
be afraid of it, but recognize
its limitations.
DNA is cheap, fast, and easy
to sequence.
Understanding what it
means is the hard part.
The Thousand Genomes Project

      Free for download
      on Amazon Cloud.

    All 200 Terabytes of it.
“I think the biggest innovations of
   the 21st century will be at the
     intersection of biology and
technology. A new era is beginning.”
            Steve Jobs (1955-2011)
Videos
• Richard Resnick - TEDxBoston 2011: Welcome to the
  genomic revolution
• George Church – TEDMED 2010: Personal genomes
• Greg Lucier – TEDMED 2010: When will the genomic
  medicine revolution finally happen?
• Barry Schuler – TED Taste 2008: Genomics 101
• Juan Enriquez – TED 2003: On genomics and our
  future
Books
•   Lone Frank: My beautiful genome (2011)
•   Kevin Davies: The 1000$ genome (2010)
•   Misha Angrist: Here is a human being (2010)
•   Francis S. Collins: The language of life (2010)

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Splash

  • 1.
  • 2. you
  • 3. DNA sequencing is becoming cheaper, faster, and better
  • 4. Moore’s Law Number of transistors on a chip roughly doubles every two years
  • 5.
  • 6.
  • 7. How much can your genome tell you? What can’t it tell you?
  • 8. The $1000 genome Can tell you Cannot tell you • Parentage • Psychology • Ancestory • Life history • Risk for • Learned behavior mendelian diseases
  • 9.
  • 10.
  • 11. Your genome for $1000 Would you want to know?
  • 12. DNA sequencing is more than just sequencing DNA
  • 13.
  • 14. DNA -> RNA -> Protein (The Central Dogma)
  • 15. Cancer is caused by DNA mutations Cancer is a word for thousands of diseases
  • 16. Cancer vs. Evolution
  • 18. Disease is a stage in a dynamic process, not a static point in time
  • 20. DNA is what makes you who you are, but you are a lot more than just your DNA
  • 21. DNA is extremely useful so take advantage of it. Don’t be afraid of it, but recognize its limitations.
  • 22. DNA is cheap, fast, and easy to sequence. Understanding what it means is the hard part.
  • 23. The Thousand Genomes Project Free for download on Amazon Cloud. All 200 Terabytes of it.
  • 24.
  • 25. “I think the biggest innovations of the 21st century will be at the intersection of biology and technology. A new era is beginning.” Steve Jobs (1955-2011)
  • 26. Videos • Richard Resnick - TEDxBoston 2011: Welcome to the genomic revolution • George Church – TEDMED 2010: Personal genomes • Greg Lucier – TEDMED 2010: When will the genomic medicine revolution finally happen? • Barry Schuler – TED Taste 2008: Genomics 101 • Juan Enriquez – TED 2003: On genomics and our future
  • 27. Books • Lone Frank: My beautiful genome (2011) • Kevin Davies: The 1000$ genome (2010) • Misha Angrist: Here is a human being (2010) • Francis S. Collins: The language of life (2010)

Editor's Notes

  1. Brief background on evolution of sequencing technologies + price drop: Single molecule approachesSemi conductor chip for sequencing DNA directly on chipNano pore based sequencing approachPull DNA through nano poreNo accuracy or throughput stats yetDNAe (DNA electronics) -real time disposable gene testsBacks Ion torrent and Roche 454 technologySemiconductor technology
  2. 23AndMe (Personal genomics)Mobile devices, social media,Facebook twitter LinkedIn-->personal genomic dataE.g. warfarin Test carrier diseases (test parents before pregnancy)23andWe discoveries. E.g found protein that appears to be protective125000 individuals in databaseeducational content to promote genetic literacy
  3. Pharmacogenomics
  4. Personalized Medicine moves into the clinic, Ralph snydermanDisease is a stage in a dynamic process, not a point in time"Personalized, predictive, prevention"Diseases develop over time as sub clinical disease over timeBaseline risk -> Earliest molecular detection -> earliest clinical detection -> typical current interventionQuantify risk, monitor progression, classify disease
  5. Personalized Medicine moves into the clinic, Ralph snydermanDisease is a stage in a dynamic process, not a point in time"Personalized, predictive, prevention"Diseases develop over time as sub clinical disease over timeBaseline risk -> Earliest molecular detection -> earliest clinical detection -> typical current interventionQuantify risk, monitor progression, classify disease