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Precision Medicine: Autism(s) as a Case History in Finding the True Names of Disease

Isaac Kohane (Harvard Medical School)
Precision Medicine Salon F
Workshop Please note: to attend, your registration must include Workshops on Wednesday.
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A recent IOM report on Precision Medicine articulated the case for using multiple dimensions of measurement, from the molecular to the environmental, all keyed to the individual, to redefine medical taxonomies that are more meaningful for prognosis and therapeutic decision-making. Such an “Information Commons” is an essential step to discovering the true names of the diseases that afflict us and I will first address recent developments that make the Information Commons attainable at a national scale. I will then address several important methodological and cultural obstacles have to be overcome. Beyond the restrictive focus of organ, molecular or phenomenology-based approaches, there are also obstacles created by several methodological disciplines (genomics, bioinformatics, epidemiology, biostatistics) that each claim to take an objective perspective. I will highlight these obstacles through a case history of the definition of the diseases of the autism spectrum disorders. In doing so, I highlight the opportunity and obligations for translational bioinformatics researchers.

Photo of Isaac  Kohane

Isaac Kohane

Harvard Medical School

Isaac Kohane is a Professor of Pediatrics and Health Sciences Technology at Harvard Medical School. He applies computational techniques, whole genome analysis, and functional genomics to study human diseases through the developmental lens, and particularly through the use of animal model systems. Specific diseases of interest are neurodevelopmental disorders and carcinogenesis. The use of whole healthcare systems as “living laboratories” to drive discovery research in the genomic area compliments his basic research agenda by providing population-level study tools.

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