Johannes Miescher Gregor Mendel Human Genome Project 2000 - - PowerPoint PPT Presentation

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Johannes Miescher Gregor Mendel Human Genome Project 2000 - - PowerPoint PPT Presentation

Johannes Miescher Gregor Mendel Human Genome Project 2000 Precision Medicine 2010 Discovery research SH3TC2 Gene Is the Disease Gene Whole-Genome Sequencing in a Patient with Charcot Marie Tooth Neuropathy James R. Lupski, M.D.,


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Gregor Mendel Johannes Miescher

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Human Genome Project 2000

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Precision Medicine 2010 Discovery research

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

James R. Lupski, M.D., Ph.D., Richard A. Gibbs, Ph.D. et al. NEJM March 10, 2010

SH3TC2 Gene Is the Disease Gene

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Whole-Genome Sequencing for Optimized Patient Management

Bainbridge, Gibbs et al. Science Translational Medicine 3, 87 (2011)

14 year old twins with Dystonia: l-dopa

+ serotonin agonist (5-hydroxytrytophan)

Precision Medicine 2011

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Genomic Sequencing Clinical Care Precision Medicine 2015 Actionable Genes for Precision Medicine

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  • Watson analyzed more than 70,000 scientific articles

related to p53. Automated analysis carried out by Watson helped scientists identify six proteins that modify p53 and that should be targeted for new research.

  • "Baylor working with Watson found six targets, and the first

two that they've taken into wet labs have been validated, so they're outpacing the industry.”

  • "Even if I'm reading five papers a day, it could take me

nearly 38 years to completely understand all of the research already available today on this protein” Dr. Olivier Lichtarge, professor of molecular and human genetics, biochemistry and molecular biology at Baylor.

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  • The pace of biomedical research has greatly accelerated

in recent years with breakthroughs in speedy, low-cost DNA analysis. Pfizer, Novartis, and many others are routinely finding correlations among genomic, clinical trial, and de-identified electronic medical records.

  • Where Watson stands out, according to IBM, is its

cognitive computing understanding of language and chemistry to make human-like leaps in understanding at computer-analysis speeds.

  • "People are already finding correlations among disparate

sets of data, but because Watson can understand concepts and interpret the direction of research, it can uncover relationships that are more subtle," Gordon told InformationWeek in a phone interview.

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Critical Insights …

1.The only constant is change and the rate of change is increasing esponentially 2.Competition is no longer the top traditional academic institution overseas. It is the explosion

  • f exponentially empowered scientists worldwide

3.If you are dependent on innovation solely from inside your own laboratory, center, academic institution, you will lose

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What does exponential growth feel like?

  • 30 LINEAR paces:

1  30 METERS

  • 30 EXPONENTIAL steps:

1  26X around the Earth

Peter H. Diamandis, MD

August 2014 Singularity University (NASA – Google – Cisco – Nokia – Genentech) XPRIZE