Professor Daniel MacArthur is Director of the Centre for Population Genomics, based jointly at the Garvan Institute of Medical Research in Sydney and the Murdoch Children’s Research Institute in Melbourne. He holds a conjoint Professorship in the Faculty of Medicine at the University of New South Wales.

Daniel 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. During his time in the US, Daniel co-directed both the Medical and Population Genetics Program and the Center for Mendelian Genomics at the Broad Institute.

As coordinator of the Exome Aggregation Consortium (ExAC) and Genome Aggregation Database (gnomAD) projects, Daniel led the development of the world’s largest collections of human DNA sequencing data, spanning nearly 200,000 individuals. These reference databases were made openly available, and as a result have had a transformative impact: they have been incorporated into clinical genomics pipelines worldwide, and have been used in the analysis of at least 2 million rare disease patients. The project websites have >40 million views, and the associated manuscripts have received >10,000 citations. Daniel also led the application of exome/genome/transcriptome sequencing approaches to >10,000 samples from families affected by genetic disease, resulting in the discovery of >300 novel disease genes.

Now Daniel directs the Centre for Population Genomics, which aspires to the vision of a world in which genomic information enables comprehensive disease prediction, accurate diagnosis and effective therapeutics for all people. Towards this goal, the Centre for Population Genomics will establish respectful partnerships with diverse communities, collect and analyse genomic data at transformative scale, and drive genomic discovery and equitable genomic medicine in Australia.

The Centre for Population Genomics has built a critical mass of expertise in massive-scale genomics, allowing us to develop population genomics tools and resources, and carry out major scientific projects in three key areas: understanding the genetic diversity of Australia’s populations; using genetic and genomic data to explore gene function and find new therapeutic targets; and using genomic technologies to improve the diagnosis and treatment of rare disease.