Research projects supported by Australian Genomics have secured $49 million to expand research into the diagnosis and management of rare disease in the latest round of grants from the Genomics Health Futures Mission.
Federal Health Minister Mark Butler announced $156 million for 93 medical research projects funded by the Government’s Medical Research Future Fund, with $56 million of that for GHFM projects.
The Australian Genomics partner projects include $10 million for a new DNA database of more than 20,000 Australians to better reflect the nation’s diverse population and under-represented groups. The database, OurDNA, will be part of the Centre for Population Genomics, a joint initiative of Murdoch Children’s Research Institute and the Garvan Institute of Medical Research.
A further $5 million will fund a National Indigenous Genomics Network to empower Indigenous leadership in genomics and increase the benefits of genomic medicine for Aboriginal and Torres Strait Islander people. The network includes researchers, health services, institutions, and industry. It will focus on governance, data systems and sovereignty, genomics policy, and indigenous genomics capacity development.
Five Australian Genomics partner projects in newborn screening attracted funding:
- The development, implementation and evaluation of a new model of genomic newborn screening to detect several hundred treatable childhood onset conditions
- Trialling a model of newborn screening that uses DNA and metabolites, along with demographic and medical information to identify newborns at risk
- Research into how newborn screening could use genome sequencing to rapidly target diseases with existing therapies, and new therapies as they are developed
- Integrating ethics and equity with effectiveness and economics for genomic newborn screening
- Assessing the benefits of using a novel genomic workflow called EpiGNs on 100,000 infants in Victoria to screen for eight treatable conditions.
Other partner projects are research into clinical RNA diagnostics; ethical governance for clinical and genomic data; a mass-spectrometry platform for improving the diagnostic rate in individuals with rare monogenic disorders; leveraging high-throughput functional assay data into existing disease-agnostic variant platforms; resolving the pathogenicity of variants of uncertain significance in rare disease using gene-activation technology; and a computational and modelling platform to accelerate variant classification.
Australian Genomics now supports genomic research projects to the value of $149 million. The projects are changing the way we approach the diagnosis and treatment of genetic disorders.