The Australian Functional Genomics Network (AFGN) has announced $5M of new funding for researchers with expertise in disease modelling.
For many disease genes there are significant numbers of potentially disease-causing variants which do not reach the current threshold for definitive genetic diagnosis. This can be burdensome for variant interpretation and clinical reporting, particularly for rare disease. To address this, the AFGN invites expressions of interest to develop gene-specific functional genomics platforms to resolve multiple variants of unknown significance (VUS) in priority genes for Australian diagnostic labs and clinicians. Projects will be eligible for catalyst funding of up to $200,000.
Funding will be allocated to platforms specifically designed to tackle the top 10 rare disease genes with the highest number of VUS reported by Australian diagnostic laboratories:
- RYR1 – Neuromuscular disease
- PKD1 – Kidney disease
- MYH7 – Cardiomyopathy & Myopathy
- MYBPC3 – Cardiomyopathy
- TTN – Cardiomyopathy & Myopathy
- ABCA4 – Retinal degeneration
- FLNC – Cardiomyopathy & Myopathy
- USH2A – Usher syndrome
- RP1L1 – Retinal degeneration
- ADGRV1 – Usher syndrome
Proposals will be prioritised for platforms that:
- Are already established and scalable; however new platforms will also be considered.
- Can achieve clinically relevant turnaround (6-12 months).
- Can leverage appropriate expertise as well as cash and/or in-kind contribution.
- Have the potential to be cost efficient and scaled to resolve multiple VUS identified through diagnostic testing in the future.
This is a fantastic opportunity to make a real impact on the diagnosis and treatment of rare diseases in Australia.
Submission requirements & due date
- Internal submission deadline: 20th March 2023.
Further information
Need Help?
- General enquiries: raohealth@adelaide.edu.au