Improving the Efficiency and Effectiveness of Genomic Science Translation Workshop Summary (2014) / Chapter Skim
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3 Moving Basic Science Forward
3 Moving Basic Science Forward
Pages 13-22
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From page 13... ...
• The use of a systems biology approach to study complex dis eases would allow the integration of multiple levels of genetic and phenotypic data and more rapid and extensive hypothesis testing. An effective way to move the translation of genomic science forward is to change the culture through the more complete integration of systems biology approaches and open sharing of data and resources.
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From page 14... ...
For example, the Framingham Heart Study, a longitudinal study started in 1948 by the National Heart, Lung, and Blood Institute and Boston University, has collected thousands of genotypes and years of clinical and research data that are openly available for downloading. ImmPort is another resource that contains an archive of genomic, proteomic, and immunological data from research supported by the Division of Allergy, Immunology, and Transplantation of the National Institute of Allergy and Infectious Diseases.
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From page 15... ...
provide a variety of both basic and clinical research services. As one example, Butte described a website called AssayDepot.com, which bills itself as the "market lace for pharmaceutical research services" by providing drug test p ing in a wide variety of mouse models.
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From page 16... ...
Accelerating Drug Development with Available Tools To demonstrate the point that new discoveries can be made with existing, publicly available data and resources that are ready to go, Butte described projects that he and his colleagues have been pursuing in their laboratory at Stanford. The first one involves type 2 diabetes, which affects between 90 and 95 percent of the almost 19 million people diagnosed with diabetes in the United States; the estimated total medical costs for those with diabetes in the United States is $174 billion (CDC, 2011)
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From page 17... ...
To emphasize this point, he described a program at Stanford University called SPARK that helps academicians move research innovations from the bench to the bedside by educating faculty members, postdoctoral fellows, and graduate students about the translational research process so that the development
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From page 18... ...
is a complex neuropsychiatric condition that includes overlapping phenotypes, including social communication deficits, language deficits, restrictive or repetitive behaviors, anxiety or attention deficit-hyperactivity disorder, and other medical comorbidities. In some cases it is caused by rare single nucleotide variants or copy number variations.
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From page 19... ...
. Exome sequencing studies using the Simons Simplex Collection of data for families with one autistic child and unaffected parents and siblings have also revealed many hundreds of de novo mutations that contribute to autism with various effect sizes (Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
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From page 20... ...
Within modules, the most central "hub" genes can be identified, and the network structure serves as the basis for making experimental predictions, testing causal and regulatory relationships, and integrating large sets of data with other sets of data. An understanding of the multiple levels of disease-associated dysfunction that lead to abnormal behavior and cognition calls for systems biology approaches that are multidisciplinary and collaborative and that allow more rapid hypothesis testing, Geschwind said.
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From page 21... ...
At present, a main goal of a researcher is to achieve academic tenure by publishing papers, but this is not the appropriate reward-based system needed to improve the translation of scientific discoveries to the clinic. "If your goal is to solve disease, those are the wrong incentives -- papers don't solve diseases." Furthermore, competitive academic institutions provide few incentives to collaborate because of the competitive nature of achieving a tenured position.
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