Abstract: Cells are the basic unit of life, and form a key intermediate between genotype and phenotype, that 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 COVID-19. I will close with an introduction to the Human Cell Atlas, an international initiative to create comprehensive reference maps of all human cells—the fundamental units of life—as a basis for both understanding human health and diagnosing, monitoring, and treating disease.
As Executive Vice President, Genentech Research and Early Development (gRED), Aviv Regev is responsible for the management of all aspects of Genentech’s drug discovery and drug development activities. She is a member of the Genentech Executive Committee and the expanded Corporate Executive Committee for Roche. Prior to Genentech, Regev served as Chair of the Faculty, Core Institute Member, founding director of the Klarman Cell Observatory, and member of the Executive Leadership Team of the Broad Institute of MIT and Harvard, as well as Professor of Biology at MIT and Investigator at the Howard Hughes Medical Institute. She is a founding co-chair of the Human Cell Atlas. Regev has served on multiple corporate advisory, scientific advisory, and journal editorial boards, including the advisory committee to the National Human Genome Research Institute at the National Institutes of Health. Regev is a leader in deciphering molecular circuits that govern cells, tissues and organs in health and their malfunction in disease. Her lab has pioneered foundational experimental and computational methods in single-cell genomics, working toward greater understanding of the function of cells and tissues in health and disease, including autoimmune disease, inflammation and cancer. She is a member of the National Academy of Sciences and National Academy of Medicine, and she is also a Fellow of the International Society of Computational Biology.
Regev has a Ph.D. in computational biology and a Master of Science from Tel Aviv University.