Submit a Disease Gene to Establish a Connection

Application Procedure: A Connect application may be submitted by any investigator associated with a Canadian institution. Requests must not exceed 2 pages (11 pt font size, 0.75 inch margins) using the attached application.

Please submit: Two page application by email to:

You will receive a submission confirmation email. Decision to proceed to a request for a connection will generally be available within 2 weeks. For further enquiries, please contact the Network’s coordinating centre at

Memorandum of Agreement for Investigators Participating in the Network Investigators who have submitted successful Connection application and model organism/system scientists who are awarded a Catalyst grant will be expected to sign an Agreement which sets out the ground rules and operative principles of the Network for investigators who wish to collaborate and receive funding. Successful applicants will be sent an MOA with notification of a successful Connection application, and with notification of a successful Catalyst Grant application. Review the MOA form.


The Network is committed to mobilizing the entire Canadian biomedical community of researchers and clinicians to communicate, integrate their resources and work together to provide functional insights into newly discovered rare disease genes. The over-arching goal is to facilitate investigation of the molecular mechanisms of rare disease early in the process of disease gene mutation discovery by catalyzing connections when resources and expertise are pre-existing in a Canadian research laboratory. The funding of ~ 100 catalyst grants over 3 years, that link the most relevant basic scientists with clinicians identifying disease genes, will have a longer term impact in developing therapeutic and disease management strategies to the benefit of patients and their families, and will raise awareness of the importance of model-based functional studies in taking a disease gene discovery to this next level. This network will also have a multiplier effect by providing a model to the world for enhancing collaboration at the basic science/ rare disease interface.


Individuals discovering novel genes in patients with rare diseases initiate the process by submitting a Connection application to connect to a model organism/system investigator. Following agreement by the Clinical Advisory Committee that the submission satisfies relevant research areas, and upon review of the BioInformatics workup, the Scientific Advisory Committee uses the Network Registry to determine which scientists are doing work relevant to the area. The SAC will invite candidate model organism/system investigators investigators to submit a 2-page application. Invitees will have one week to respond to an invitation, and then must apply for the next grant deadline. Submissions can be submitted on either the first or third Fridays of the month. Decisions will be made in one week, at the next SAC conference call (second and fourth Fridays of the month). Up to four projects will be funded from each Connection application. Recommendations for establishing a connection between a model organism/system investigator will be reviewed with the clinician and accepted or not.

Funds Available

A maximum of $30,000 will be awarded for each Catalyst grant. Model organism/system investigators are expected to provide evidence that they/their lab is set up to do the work proposed in a timely fashion. Where the budget for the proposed work exceeds the Catalyst grant of $30,000, applicants are required to describe what work the Catalyst grant funds will cover and how additional funds will be garnered.


To apply for Network funding, you must:

  • Be affiliated with an eligible Canadian institution or organization by the time the funding begins;
  • Not be employed by Canadian federal government departments or agencies or for-profit organizations unless affiliated with a university;
  • Not have a financial interest holding of more than 5% in a company proposed as an industry partner for research funding;
  • Consent to the public disclosure of personal information in the case of a serious breach of Agency policy

For more information, please see the Canadian Institutes of Health Research (CIHR) Application Administration Guide] .

Partner Participation

The Network has no formal requirement for partnering. Applications are welcomed from pre-existing or newly formed teams of clinicians and model organism/system investigators who share an interest in pursuing a disease gene discovery. The Network also welcomes proposals from other organizations such as rare disease foundations who are interested in supporting Catalyst Grants in targeted areas. [contact us]


The specific objectives of this funding opportunity are to:

  1. provide functional validation of human genetic variants that cause disease;
  2. supplement clinical disease gene discoveries by generating functional data so as to get higher impact publications;
  3. develop insights into potential rationale for treatment (e.g., identification of candidate drug targets) via knowledge of a disease gene pathway; and
  4. establish longer term collaborations between basic scientists and clinicians that will lead to subsequent grant funding in support of outstanding basic and/or applied research.

Relevant Research Areas

Three categories of Connection applications will be considered:

  • Novel gene supported by genetic evidence (mutations in the same gene in unrelated patients with a similar phenotype) and functional data is being rapidly sought prior to publication.
  • Candidate gene for a rare disease in a single patient/family/isolated population such that additional functional data is necessary to support disease-causation. Two types of candidate genes will be considered:
    1. Candidate gene has not previously been associated with disease; and,
    2. Novel mutation in known disease gene causing a very distinct disease secondary to a presumed alternate mechanism.
  • Known disease gene that is of therapeutic or biological interest to a unique Canadian population or community (e.g. Hutterite, First Nation, French Canadian, patient advocacy group etc.).
    1. Therapeutic opportunities will include projects that propose to develop a model asset for drug screening or develop a model to evaluate efficacy of a treatment; and,
    2. Biological interest will include those genes published by a Canadian group for which further study has the potential to impact a new area of biology.

Frequently Asked Questions

How is a gene discovery application prioritized?

  • The principal criteria for ranking applications is the quality of the genetic data implicating mutations in the gene as disease-causing, in which case, mutations in the same gene in unrelated patients with a similar phenotype will usually provide the strongest evidence (variants should be rare in the general population). In addition, applicants will be required to provide justification with respect to additional criteria which will be weighted according to: disease severity and medical need; potential therapeutic tractability; (possible) impact on a unique Canadian population; and novelty of the implicated biological pathway.

Are specific diseases prioritized or focus on a specific areas publicized?

  • The intent of the Network is to catalyze research on rare diseases, so specific rare diseases are not prioritized by the Network. However, the Network is open to receiving designated funds from rare disease groups interested in utilizing the Network process to enable research in a targeted disease area. If such funds are made available, the Network will publicize this opportunity on the Network website.

What constitutes a rejected application?

  • The most usual reason for the CAC to reject an application is the lack of adequate genetic data to support causality. Applications will also be rejected if it is deemed that the applicant is proposing study of a relatively common variant in the population. If a variant phenotype in a known gene is proposed, the applicant will have to justify that this is a distinct phenotype based on different pathogenic mechanism (eg. gain-of-function versus previously described hypomorphic mutations).

Under what circumstances might an application be put “on hold”?

  • A key objective of the Network is to expedite collaborations between clinicians and basic scientists in model-based studies of rare disease genes. Although encouraging applications from clinicians determining genetic causes of disease in patients, the CAC accepts that there could be situations where a clinician may not be able to provide sufficiently detailed analysis of genetic data, whereupon the input of a molecular geneticist will be encouraged to build the case for consideration.

What happens when different clinical groups propose the same gene?

  • The co-chairs will call the different groups to encourage a collaboration. This has proven to be an effective strategy in the Canadian FORGE and Care4Rare consortium. Clinician applicants should recognize that a collaborative project is more likely to lead to publication in a high ranking journal, given the fierce competition for publication and current criteria being set by journal editors.

If I come in with an established model organism/system partner, and the BIC Registry indicates that there are other model organism/system investigators working on the same gene in different systems, will I have to partner with other groups?

  • The Scientific Advisory Committee (SAC) has the discretion to ensure that applicant’s model organism/system partner is credible and well-established. As up to 4 Catalyst projects will be funded for each clinical gene discovery application, the applicant will be provided with the Registry search information and encouraged to consider the value of interrogation of gene orthologues in different systems.

If I have developed and been studying a rare disease/gene model, can I apply for a catalyst grant?

  • The Network is dedicated to providing funds that enable connections between clinicians and model organism/system scientists. A clinician investigator who has a lab and is conducting research in a gene area will be ineligible for funding.

If models are available (ie. from Jackson Labs) can I propose to access these model(s) in order to conduct the work proposed for a Catalyst grant?

  • The Network wants to expedite elucidation of gene function and functional validation of human genetic variants that cause disease. Applications will be considered if you can make a credible case to import the model, and partner with a lab scientist with appropriate expertise to establish the proposed system in a timely fashion.

Models & Mechanisms Network