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 VUS in priority genes for Australian diagnostic labs and clinicians
(link to register below).
The following list represents the rare disease genes with the highest number of VUS reported in Shariant, a cloud-based sharing platform that captures clinically curated variants from accredited labs and clinical services across Australia.
*Presented in order of highest to lowest priority as determined by our clinical and scientific review committees
We will prioritise proposals for platforms that:
Applications should consider the stringency of evidence required to elevate a variant from VUS (3) to likely pathogenic/pathogenic (4/5) in their proposal (see Brnich et al. Genome Medicine (2020) 12:3).
Projects will be eligible for catalyst funding of up to $200,000. If your application is short-listed, you will be invited to participate in an interview with our panel to discuss your proposal and budget before a final decision is released.
We encourage researchers to utilise existing capabilities in their project design. Phenomics Australia is an NCRIS-funded initiative that offers services and expertise in developing animal models and non-animal technologies to assist project development and delivery.
For more information, contact John Parisot at firstname.lastname@example.org or visit:
In Vivo Genome Engineering & Disease Modelling
In Vitro Genome Engineering & Disease Modelling Service
Proposals must be submitted to email@example.com
Applications close at 5PM (AEDT) on Monday March 27th, 2023