Full Name
Daniel MacArthur
Job title
Director
Affiliation
Centre for Population Genomics
Speaker bio
Daniel MacArthur is a human genomicist with over two decades of experience at the interface between human biomedicine, large-scale genomics, and data science. From 2012-2019 he served as Co-Director of the Medical and Population Genetics Program at the Broad Institute of MIT and Harvard; during this period he co-directed the Broad Institute's Centre for Mendelian Genomics, overseeing the generation and analysis of genomic data from over 10,000 individuals from rare disease families, and contributing to the discovery of more than 100 new rare disease genes, and 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 750,000 sequenced individuals. In 2020 he returned to Australia as the inaugural Director of the Centre for Population Genomics, a joint initiative between the Garvan Institute of Medical Research in Sydney and Murdoch Children's Research Institute in Melbourne, now a team of over 40 researchers and staff focused on building the infrastructure and resources needed to ensure that all Australians can benefit from the next decade of rapid advances in genomic medicine. His team leads a number of national programs including OurDNA, which is working with under-represented Australian communities from the Pacific, South-East Asia, the Middle East, and Africa to build a more representative resource of Australian genetic diversity, and the AASGARD program, which seeks to rapidly validate and deploy advanced analytics, including new AI tools, in the diagnosis of rare genetic diseases in both research and clinical settings.
Daniel MacArthur