Murdoch Children’s Research Institute (MCRI) Professor Daniel MacArthur and Dr Sylvia Metcalfe have been recognised on the international stage for their wide-reaching achievements in genetics.

Professor Daniel MacArthur was presented with the European Society of Human Genetics (ESHG) Award while Dr Sylvia Metcalfe received the Ethical, Legal, Psychosocial Aspects of Genetics (ELPAG) Award from the European Society of Human Genetics (ESHG).

Professor MacArthur’s award celebrates his accomplishments across genomic sequencing, data collection and furthering genetic diversity in research.

Image: Professor Daniel MacArthur

Professor MacArthur leads the Centre for Population Genomics (CPG), a joint initiative of MCRI and the Garvan Institute of Medical Research. One of the centre’s projects, OurDNA, aims to deepen our understanding of human genetics by collecting and analysing genomic information from 10,000 culturally and linguistically diverse Australians. CPG has used genomic technology to diagnose more than 450 families affected by severe genetic conditions.

“Genomic technology can provide critical answers to families about rare, undiagnosed illnesses, but we need to build the tools and resources to ensure that every family that needs a diagnosis can benefit,” Professor MacArthur said.

During his time at the Broad Institute (a collaboration between Harvard University and Massachusetts Institute of Technology), Professor MacArthur built what is now the world’s largest accessible database of human genetic information. This resource, gnomAD, is used by diagnostic labs and researchers all over the world who want to better understand rare genetic conditions.

Dr Metcalfe, who retired from MCRI in 2018 and previously led MCRI’s Genomics in Society and Genetics Education groups, focused her research on the wider societal implications of genetic technology. The award highlights her dedication to broadening public understanding of genomic testing and helping families make more informed decisions.

Image: Dr Sylvia Metcalfe

Shifting from lab-based research on toxicology and cancer to people-centred research, Dr Metcalfe explored the ethical and social aspects of genetic technologies.

“Genomics has moved incredibly quickly since the human genome was sequenced in 2003, so improving the public’s knowledge around genetic services and the associated risks and benefits has been very important,” she said.

“It’s deeply rewarding working with young researchers and leaders, as well as securing ongoing support and funding for world-leading genomic projects that continue to be led out of MCRI.”

Read more about MCRI’s Genomic Medicine research and the Rare Disease Flagship.