Speaker: Prof Daniel MacArthur (Garvan Institute) Abstract: The human population, through explosive growth, has performed a comprehensive saturation mutagenesis experiment on itself: any single base substitution that is compatible with life is expected to be present somewhere in the genome of at least one of the nearly 8 billion living humans. Our species has thus, in effect, done many of the natural experiments required to understand our own genotype-phenotype map; the goal of geneticists is to generate the right data from the right people to understand this map, and to convert it into actionable information that can be used in the prediction, diagnosis, and treatment of disease. In this presentation I will discuss the impact of large-scale genomics in international biobanks and healthcare settings on our understanding of human biology; review some of the most important goals for the field of human genetics over the next 5 years; and emphasise the urgent need for more representative resources of human genetic and genomic data to ensure the equitable benefit of future advances in genomic medicine. About the speaker: Daniel is the Director of the Centre for Population Genomics, based jointly at the Garvan Institute of Medical Research, Sydney and the Murdoch Childrenâs Research Institute in Melbourne. He completed his PhD at the University of Sydney before moving to postdoctoral studies at the Wellcome Trust Sanger Institute in Cambridge, UK, and then a faculty position at Harvard Medical School, Massachusetts General Hospital, and the Broad Institute of MIT and Harvard in Boston. In this position he co-directed the Broad Instituteâs Program in Medical and Population Genetics, as well as the NIH-funded Center for Mendelian Genomics, which sequenced the exomes, genomes, and/or transcriptomes of over 10,000 individuals from families affected by severe Mendelian disease. He also led the Genome Aggregation Database (gnomAD) consortium, which produces the worldâs largest publicly accessible catalogue of human genetic variation, now spanning data from more than 800,000 individual exomes and genomes Daniel returned to Australia in 2020 to lead the new Centre for Population Genomics (CPG), now a team of 40 researchers, software engineers, community engagement experts, and other professional staff. The Centre’s mission is to establish respectful partnerships with diverse Australian communities, to work with those communities to collect and analyse genomic data at transformative scale, and to use these data to drive both novel genomic discovery and the development of equitable genomic medicine. The CPG currently leads national projects in the development of more representative resources of genetic variation in Australian communities; improving the genomic diagnosis of rare disease; and combining large-scale genetic and cellular genomic data to understand gene function. This event will be held in-person and online. Venue: Learning Studio 225, Susan Wakil Building Zoom: https://uni-sydney.zoom.us/j/84087321707