Dr Marcelo Nobrega is a professor in the Department of Human Genetics and a member of the Institute of Genomics and Systems Biology at the University of Chicago. Dr Nobrega works in understanding the mechanisms by which genetic mutations in noncoding DNA are linked to the increased risk to various diseases. These mutations, many of which presumably affecting cis-regulatory switches, have proved particularly challenging for the functional dissection of their biological impact. Dr. Nobrega has participated in efforts to devise novel strategies and experimental assays to identify gene regulatory elements. He was a principal investigator of an ENCODE project to devise strategies to map the binding of certain transcription factors and to develop novel experimental approaches to assay for specific classes of regulatory elements. Working with various human and mouse cell types, mice, and zebrafish, Dr Nobrega modeled the impact of mutations implicated in various human diseases, such as congenital heart defects, heart failure, cancer, type 2 diabetes, obesity, and asthma. Using genomics approaches, Dr Nobrega has identified the gene IRX3 as the strongest association to polygenic obesity in humans, and characterized the mechanisms by which mutations altering the expression of a gene called TCF7L2 also represent the strongest genetic link to type 2 diabetes in humans. In this Symposium, he will describe the experimental platforms utilized to unravel the mechanisms by which a noncoding SNP lead to increased risk to Type 2 diabetes.
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