Centre for Population Genomics
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Rare Disease

Improving the genomic diagnosis of rare disease

Severe inherited diseases such as muscular dystrophy are individually rare but collectively common, affecting more than one in 12 Australian children. Our team has worked with clinical collaborators from across Australia to build the largest research-accessible cohort of rare disease families in the country, now spanning more than 5,000 individuals. We apply novel genomic and analysis methods to identify the underlying genetic causes of each family's condition, making it more likely that they can access better healthcare options, clinical trials, and effective treatments.

Australian Functional Genomics Network (AFGN)

(PI: Professor Andrew Sinclair, Murdoch Children’s Research Institute)
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Advancing clinical genomics with long-read sequencing

(PI: Dr Ira Deveson, Centre for Population Genomics)
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A national large-scale automated reanalysis program

(PI: Professor Zornitza Stark, Murdoch Children’s Research Institute)
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Genomic diagnosis and gene discovery in rare disease (GDRD)

(PI: Professor Daniel MacArthur, Centre for Population Genomics)
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Population genomics tools

(PI: Professor Heidi Rehm, Broad Institute)
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The Centre for Population Genomics is a national initiative, jointly housed at the Garvan Institute of Medical Research and the Murdoch Children’s Research Institute. We work all across the country and collaborate with partners internationally and in Australia.

At CPG, we celebrate and respect diversity in our team and our work. We believe that including all human diversity in genomic research will empower medical care that benefits everyone.

We acknowledge the First Australian peoples on whose traditional lands we live and work across the country and pay our respects to their elders past, present and emerging. We gratefully accept the invitation in the Uluru Statement from the Heart “to walk with us in a movement of the Australian people for a better future”.

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