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In this video Dr Nadav Ahituv presents Modulating Gene Regulation to Treat Gene Dosage-Associated Diseases.

Dr. 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 Ph.D. in human genetics from Tel-Aviv University working on hereditary hearing loss. He then did his postdoc, in functional genomics, at the Lawrence Berkeley National Laboratory and the Department of Energy Joint Genome Institute.

The Ahituv lab is focused on understanding the role of regulatory sequences in human biology and disease. Through a combination of comparative genomic strategies, biochemical assays, regulatory element analysis, human patient samples, mouse and fish genetic engineering technologies, and massively parallel reporter assays they are working to elucidate mechanisms whereby genetic variation within these sequences leads to changes in human phenotypes.

Chapters:
00:00 Welcome and Introduction to the work of Dr Nadav Ahituv
03:10 Overview of talk
04:27 Haploinsufficiency: When one functional copy of a gene is not enough
09:31 CRISPRa as a therapeutic for haploinsufficiency?
11:13 Sim1, an important obesity gene
14:44 CRISPRa for either Sim1 promotor or enhancer rescues the obesity phenotype
22:23 Can we develop it as a therapeutic?
23:35 Many genes cannot get packaged in an AAV
28:23 Summary
43:43 Q&A

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