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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 cell atlases. From such comprehensive maps we can recover 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 new cell types and behaviors, not measured yet by experiments, 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 and their combinations, using single cell and spatial genomics as a conceptual and technical framework, in common complex disease, rare 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.
Prof. Aviv Regev is a computational biologist and Executive Vice President and Head of Genentech Research and Early Development in Genentech/Roche. She is a core member (on leave) at the Broad Institute of MIT and Harvard and professor (on leave) at the Department of Biology of the Massachusetts Institute of Technology. Regev is a pioneer of single cell genomics and of computational and systems biology of gene regulatory circuits. She founded and leads the Human Cell Atlas project, together with Sarah Teichmann. She is a fellow of the International Society of Computational Biology (ISCB), a Helmholtz Fellow (2020), and a fellow of the American Association of Cancer Research (AACR). She is a member of the US National Academy of Sciences and of the US National Academy of Medicine. Her achievements include: Overton Prize (2008), ISCB Innovator Award (2017), Paul Marks Prize for Cancer Research (2017), Keio Medical Science Prize (2020).