In March 2023 the AFGN released a funding call to develop gene-specific functional genomics platforms to validate variants of uncertain significance (VUS) in genes of high clinical priority.

We are excited to announce that a total of $1.13M has been allocated to the following six platforms:

  1. Polycystin 1 (PKD1): Ian Smyth & Amali Mallawaarachchi to investigate Polycystic kidney disease using Mice.
  2. Filamen C (FLNC): Robert Bryson-Richardson to investigate cardiomyopathy & myopathy using
  3. Ryanodine receptor 1 (RYR1): Avnika Ruparelia to investigate neuromuscular disease using Zebrafish.
  4. Titin (TTN): David Ascher to investigate cardiomyopathy & myopathy using protein structure assays.
  5. Usherin (USH2A): Robyn Jamieson to investigate Usher syndrome (hearing loss & visual impairment) using Human iPSC retinal organoids.
  6. ATP binding cassette subfamily A member 4 (ABCA4): Alex Hewitt to investigate retinal degeneration using site-directed mutagenesis and midigenes.

For each of these genes there are significant numbers of potentially disease-causing variants which do not reach the current threshold for definitive genetic diagnosis. Collectively, these projects will analyse approximately 100 variants. We look forward to sharing the impact this body of work has on validating unresolved variants and improving outcomes for Australian patients.

The AFGN would like to thank all applicants for their submissions, our committee members for their evaluations and the Shariant team and user group for their input in identifying genes of high clinical priority.

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A friendly reminder to our registered researchers: Please ensure that your registry profile remains up to date to enhance your chances of being considered for projects of interest. We are funding new projects every month.