MAY 11, 2017 10:30 AM PDT
Functional Characterization of Gene Regulatory Elements
Presented at the Genetics and Genomics 2017 Virtual Event
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  • Professor, Department of Bioengineering and Therapeutic Sciences, Institute for Human Genetics, UCSF
      Dr. Nadav Ahituv is a Professor in the Department of Bioengineering and Therapeutic Sciences and the Institute for Human Genetics at the University of California, San Francisco. He received his PhD in human genetics from Tel-Aviv University working on hereditary hearing loss. He then did his postdoc, specializing in functional genomics, in the Lawrence Berkeley National Laboratory and the DOE Joint Genome Institute. His current work is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. In addition, his lab is developing massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements.


    Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammatical rules that govern their function. Deciphering the code and their grammatical rules will enable high-resolution mapping of regulatory elements, accurate interpretation of nucleotide variation within them and the design of sequences that can deliver molecules for therapeutic purposes. To this end, we are using massively parallel reporter assays (MPRAs) to simultaneously test the activity of thousands of gene regulatory elements in parallel. By designing MPRAs to learn regulatory grammar or to carry out saturation mutagenesis of every possible nucleotide change in disease causing gene regulatory elements, we are increasing our understanding of the phenotypic consequences of gene regulatory mutations. 

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