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Cell Atlases as Roadmaps to Understand Genes and Treat Disease

Wednesday, February 3, 2021 - 3:00pm to 4:00pm


Aviv Regev, Ph.D.
Chair of the Faculty and Core Member, Broad Institute
Director, Klarman Cell Observatory, Broad Institute
Professor, Department of Biology, MIT
Investigator, Howard Hughes Medical Institute
Broad Institute

Dr. Regev is the newly named Executive Vice President of Research and Early Development at Genentech, a subsidiary of Roche. She has earned praise for creating technologies to expand understanding of biological processes, such as assays for sequencing RNA in single cells and associated machine learning algorithms. She also co-leads the Human Cell Atlas project, which aims to describe all cell types in the human body. She is currently on leave from her longstanding positions at MIT and at the Broad Institute. 


Cells are the basic unit of life and form a key intermediate between genotype and phenotype, which is essential to explain how the gene variants that contribute to disease risk act. The recent advent of methods for high-throughput single-cell and spatial profiling has opened the way to create a human cells atlas: comprehensive reference maps of all human cells as a basis for both understanding human health and diagnosing, monitoring, and treating disease. From such maps we recovered rich aspects of biology, including cell types and states, differentiation and other temporal processes, gene programs, the physical location and interactions between cells, the underlying regulatory circuits, and even the possibility of predicting cell types and behaviors, towards a "periodic table" of our cells. These, in turn give us a new vocabulary for disease studies to determine the way in which cells do disease genes act, which cells are disrupted in disease, which programs change in them, what mechanisms underlie their (dis)regulation, how their cell-cell communications affected, and what would be the impact of therapies. In this talk, I will focus on how atlases help us to understand the relation between genotype to phenotype, especially in the context of human genetics and disease, from cells, to programs, to deciphering individual gene functions, using single cell genomics as a conceptual and technical framework, in complex disease, cancer, and even COVID-19.

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