We encourage principal investigators from research laboratories in Australia who have functional genomics expertise to join our Researcher Registry.

Registration indicates an interest in collaborating with clinical teams to investigate the functions of variants of uncertain significance (VUS) or genes of uncertain significance (GUS) in patients with genetic disorders that have been submitted to the Network.

Registrants will be asked to provide:

  • Current genes, gene families or pathways of interest
  • Scope of your research capacity in functional studies
  • Expertise in specific experimental models, disease phenotypes, tissue types and organ systems
  • Recent relevant publications on functional genomics research

Members of our Researcher Registry will have the opportunity to:

  • Apply for AFGN funding to support investigations in genes/variants submitted to the Network
  • Have work included in AFGN media (newsletters, seminars and social media)
  • Receive targeted information about conferences, seminars, and external funding opportunities

Research team selection

The intention of the matching process is to identify research teams that have the expertise to study the specific disease gene, or orthologue, and are able to start functional analyses immediately.

Successful matches will be prioritised based on the following information in their profile:

  1. The gene is listed as a “Primary gene”
  2. The gene is listed as a “Secondary gene”
  3. Demonstrated capability to model patient phenotype
  4. Gene ontology terms match the gene of interest
  5. Organ system focus matches patient phenotype

Genes you are currently working on should be marked as “Primary genes”.

All other genes listed will be classified as secondary genes by default. Tier2 genes include those that you are not actively working on but have the capacity/interest to study with minimal setup time.

Building a public resource

The registry infrastructure was built to have a lasting impact on the pathway to achieving diagnosis for patients with genetic disorders.

We encourage researchers to set their privacy settings to public to allow others to search the database for functional genomics researchers both within Australia and internationally across Canada, Japan, and Europe. However, all profiles will be kept private by default.

Public profiles can be seen by anyone using the registry search feature. If you have specific genes that you wish to keep private, these can be hidden in your privacy settings.

Frequently asked questions

Who should register?

We encourage the chief investigator(s) of model systems research teams that are interested in functionally validating VUS from patients across Australia to register. The chief investigator(s) and the host institution(s) must be in Australia and eligible for ARC/NHMRC funds.

What happens to my information?

The Clinical and Scientific Review Committees and Network Team will use the registry to identify candidates for research opportunities. The registry is password-protected and the information you enter will be kept secure. The visibility of your information depends on your Data Privacy and Partner registry sharing setting. These settings are accessible via the Profile Page.

When the Network receives a Connection Application that is deemed appropriate by the Clinical Review Committee, the Scientific Review Committee will use the information provided by registrants to identify potential matches in the registry. If your team is identified as a match, you will be invited to complete an expression of interest survey to proceed with the connection. We encourage you to re-visit your registry profile to keep your information up to date.

Which genes should I enter in the registry?

Genes are divided into Tiers:

  • Tier 1 or Primary genes are those you currently work on. You must be able to immediately, specifically and rapidly study them in your laboratory. You can mark genes as Primary genes by selecting the tick-box that appears when you add a gene. Genes you have recently published on are especially good Primary genes. We expect this to typically be between one and ten genes.
  • Tier 2 genes are those you do not mark as Primary. Carefully choose genes which you are not necessarily actively investigating but would be able to work on rapidly and specifically with minimal set-up time. These might be paralogs of Tier 1 genes, or members of the same complexes or pathway. For most registrants, we expect there might be between one and 50 non-Primary genes entered.
  • Tier 3 genes are not specifically selected by the registrant but are identified by Gene Ontology (GO) terms. By registering the GO terms most relevant to your research interest, genes matching the annotations are regarded as Tier 3 genes. Once you have entered your genes, click the “Recommend Terms” button to get started. There may be several hundred such genes.

The tiers have been developed to capture the range of genes that each team can work on.  We recognise that for any given human gene, there is a limited chance that a researcher in Australia is actively studying that specific gene and some labs may have the capacity to study genes outside of their gene-list. However, preliminary matching will be targeted to researchers with registered capacity to work on genes submitted to the Network to prioritise invitations that are most relevant to your research interest and capabilities. The opportunity to work on any unmatched gene will be provided to all registered researchers.

See also “I study the entire genome”. 

Entering genes into the registry is only the first step in the connection process. For a given human gene needing a match, we will first look for registrants who list an ortholog as a Primary (Tier 1) gene. If no match is found, the other Tiers will be searched. If a gene you entered comes up and you are invited to establish a collaboration, you will have to indicate your readiness to undertake the research. Keep that in mind as you register your genes of interest and expertise.

Should I fill in the human orthologs of genes I study?

No. Only register genes for the model system you currently work on. Only register human genes if you are working directly with them. See also ‘Which genes should I enter into the registry?’ and ‘Are humans a “model”’.

What if I cannot find my gene in the registry?

Some genes are yet to make it to the model organism’s reference gene annotation. In that case, chose a human ortholog of the gene if known. If you think that your nominated gene(s) should be in the registry, please contact us to let us know. Do not register human genes merely because they are orthologs of the genes you study in a model organism.

What if the organism I study is not listed?

The registry was constructed assuming that the majority of registrants work on one or more of the most popular model systems, but we recognize this does not cover all researchers. If your organism is not listed, you have two options. One is to let us know and we can consider adding it, if technically feasible. Alternatively, you can select the most closely related organism and enter the orthologs of your genes of interest and indicate clearly in your “Research Focus” under Model Organism tab that this is a case of exception. The match will always be based on the human gene, so if we can identify you through a search of the registry via an orthologue, you will be considered as a potential match.

I study the entire genome or am capable to assay the function of any gene. How do I select which genes I should list?

We recognize that many labs can study any gene. The intention of this program is to identify researchers who have a track record of research in orthologues of human genes associated with rare disease. You should register the set of genes that you are able to promptly investigate. See  ‘Which genes should I enter into the registry?’.

Are humans a "model" for the purposes of the registry?

If the Scientific Review Committee identifies more than one research team as a potential match, all will be notified and invited to form a connection. If multiple teams working with different model systems are willing to investigate the gene or variant, the Network will encourage the multidisciplinary approach to achieve a more comprehensive analysis.

Will only one team be chosen per disease gene/variant application?

If the Scientific Review Committee identifies more than one research team as a potential match, all will be notified and invited to form a connection. If multiple teams working with different model systems are willing to investigate the gene or variant, the Network will encourage the multidisciplinary approach to achieve a more comprehensive analysis.

What Data Privacy Settings should I choose?

The Data Privacy Settings section on your Profile page lets you choose your local data sharing preferences. The default setting for the registry is pre-selected but can be changed. The options are:

  • private – your information will only be accessible by Network administrators for matching you to a submitted gene and considering you for connection opportunities.
  • shared – your information will be accessible by other researchers who are registered. Registered users will be able to access your information through the provided search interface.
  • public – your information will be visible publicly. Your information will be shared (see above) with registered users and will be accessible to non-registered users through the registry’s public search webpage

What does it mean to share data with partner registries?

The Australian Functional Genomics Network has recently established linkages with similar rare disease networks around the world. These connections will enable matches across borders when there is no expertise within the country where the disease variant is discovered. The registry software supports the exchange of data with international partners in a secure way.

The Partner registry sharing section on your Profile page gives you the option to set your preference for sharing your data with the Australian Functional Genomics Network’s partner registries for the purposes of establishing connections between clinicians and researchers who are submitting genes to partner registries and Australian model system researchers. The shared data will only be visible to the administrators of the partner registries. If your data privacy level is set “public”, partner registries will gain access to your profile automatically.