At this year's Sohn Hearts & Minds Conference, we heard from Prof Daniel MacArthur. Daniel is the Director of the Centre for Population Genomics (CPG), a joint initiative of the Garvan Institute of Medical Research in Sydney and the Murdoch Children’s Research Institute in Melbourne. The CPG was established to solve the critical scientific, regulatory, and technical problems currently limiting the development of genomic medicine in Australia, and to execute large-scale projects that will establish Australia’s leadership in this field.
Daniel previously served as Co-Director of the Medical and Population Genetics Program at the Broad Institute of MIT and Harvard, and headed up a team jointly based at the Broad Institute, Massachusetts General Hospital, and Harvard Medical School. He co-directed the Broad Institute's Centre for Mendelian Genomics, which has sequenced and analysed genomic data from over 10,000 individuals from rare disease families and contributed to the discovery of more than 100 new rare disease genes. He also led the development of the Genome Aggregation Database (gnomAD), the largest and most widely-used data set of human exome and genome sequence data, which has collated data from over 140,000 sequenced individuals.
You can watch his presentation below.
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