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DESCRIPTION (provided by applicant): This is a request for the purchase of specialized instrumentation to expand acquisition of samples for BioVU, the Vanderbilt DNA databank, into the pediatric population. The challenges to improve child health surround us - regionally, nationally, and globally. Eleven million children die each year before 5 years of age, with 4 million of these deaths occurring within the first month of life. Long-term disabilities compromise the lives of countless others. Personalized Medicine, a mechanism to optimize human health based upon knowledge of an individual's genetic composition, environmental exposures, behaviors, and therapeutic options, holds unparalleled promise to prevent, anticipate, or intervene in, disease throughout the lifespan and promote the well-being of future generations. Vanderbilt University Medical Center (VUMC) has embraced the concept of Personalized Medicine, and will utilize its internationally recognized basic and clinical research expertise in genetics, bioinformatics, pharmacology, medicine, pediatrics, obstetrics, neurology and related clinical disciplines, to bring this dream into practice. VUMC has established an innovative platform to facilitate medical research, and the implementation of Personalized Medicine, BioVU. BioVU is a DNA biobank that is linked to the de-identified electronic medical record (EMR) of the individual from which the sample was obtained. The resource is currently accruing ~500 adult samples/week, and as of February 2009 contains more than 50,000 samples. By early 2011, the collection will exceed 100,000 samples. Information from the EMR has been systematically extracted and de- identified to form the Synthetic Derivative (SD) database. The SD incorporates health information from pregnancy, the perinatal period, infancy, childhood, and adulthood on patients cared for at VUMC, including those only seen at Vanderbilt Children's Hospital. The ability to acquire pediatric DNA samples linked to the SD will be essential to afford the same opportunities to improve outcomes in pediatric disorders as in those afflicting adults. Expansion of BioVU to incorporate pediatric biobanking requires a mechanism for small volume DNA extraction that ensures both timely generation of sample sets for analysis as well as sample integrity. Accordingly, this proposal requests funding for the purchase of a QIAsymphony SP, a compact integrated system that includes modules and software for DNA sample preparation and quantification. This represents an enabling instrument for the conduct of cutting edge translational science.
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Vanderbilt Genome-Electronic Records (VGER) Project
Vanderbilt Genome-Electronic Records (VGER) Project
Vanderbilt Genome-Electronic Records (VGER) Project
Functional Genomics of Cardiac Sodium Channel Variants
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