Professor Daniel MacArthur is a global leader in human population genomics, rare disease diagnosis, and clinical translation. He developed widely-used genomic resources estimated to have contributed to the diagnosis of >13million rare disease patients worldwide, and has co-authored publications that have been cited in aggregate over 130,000 times. He directs the Centre for Population Genomics (Garvan Institute of Medical Research and Murdoch Children’s Research Institute), leading a team of researchers and staff building representative genomic resources for Australian communities, and using genomics and data science tools to improve the diagnosis of Australian families affected by severe genetic diseases.