Judith and David Coffey Seminar: Prof Daniel MacArthur

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 Children’s
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 Institute’s 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 world’s 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