Human Genetics and Clinical Research Core

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Core C Project Summary/Abstract Recent advancements in genetic and genomic approaches have been highly productive in identifying new biology underlying human health and disease. The genomic technology development support from The O'Brien Center, over the last 5 years, has enabled the implementation of cutting-edge technologies and achieve cost reductions of exome and other sequence analyses. Similarly, success in biomarker discovery methodology and multiplex assay development have allowed translational of these signals in clinical settings. Success in disease gene discovery and translational research requires diverse skill sets and effective collaborations among clinicians, basic scientists, and biostatisticians. Necessary tools include expertise in clinical medicine, knowledge of the regulatory environment to permit development of appropriate IRB protocols, expertise in study design to ensure that studies are adequately statistically powered, technological expertise to ensure that lab-based approaches remain at the cutting edge of the field, and first-rate bioinformatical/biostatistical analysis of results to ensure that findings are valid and robust. Yale has developed expertise in each of these areas and as a consequence, Yale investigators have been at the forefront of this endeavor with leaders in gene discovery for renal and Mendelian diseases and complex traits and translational research. In the last 5 years, projects fostered by 51 Yale and non-Yale investigators have led to the publication of more than 80 articles, many of them in high-profile journals. These publications report on the discovery of new disease genes for a wide array of kidney diseases, with many more discovery projects underway with leading investigators from the NIDDK community. This core will continue to provide key infrastructure support for all steps along the path to discovery, including development of HIC protocols, patient recruitment, biomarker discovery and validation, and analysis of next generation DNA sequencing and other large data sets. This core will provide effective training for students, fellows and faculty, and will help engage new investigators in translational research.