other : research network: rare diseases
causative genes for human genetic disease are now being discovered at a remarkable rate. in some cases these genes have well-known functions, but in many other cases they have not been the subject of much previous study and little or nothing is known about their function. as recognized in international rare diseases research consortium’s (irdirc) policies and guidelines, model organisms such as yeast, c. elegans, drosophila, zebrafish, and mice, provide powerful and efficient tools to validate putative disease genes and to gain understanding about the functions of unknown genes. canada has a great deal of fundamental research strength in these areas, and we have seen over the past few years the potential of collaboration between these research communities and clinical geneticists who are working directly with people who are living with rare genetic diseases.
this program builds on the success of the research catalyst network: rare diseases program, launched in 2014, which led to the development of the rare diseases models and mechanisms network (rdmm). thanks in part to this network, the first of its kind around the globe, canada’s national gene discovery programs are progressing at a higher success rate than anticipated, largely because of the international uptake of the matchmaker exchange initiative, which has accelerated the identification of additional families with the same rare disease. the current volume of novel genes waiting for a connection to a model organism expert continue to grow, thereby supporting the second launch of this program. moreover, the rdmm inspired and supported the development of similar initiatives in other countries, and for about 10% of submitted genes, no suitable model could be identified in canada. this second edition of the program therefore seeks to support a rare disease network aiming at maintaining canada’s leadership in enabling clinical geneticists who are identifying rare disease gene mutations to collaborate with model organism researchers with expertise in the cognate gene’s function, and to develop the capacity to study genes for which no suitable models can be identified in canada or in other countries with similar networks. this will provide a powerful incentive for expanded international collaborations between canadian model organism researchers and clinical geneticists elsewhere, and will enable reciprocal arrangements whereby model organism researchers elsewhere will be funded by other networks to collaborate with canadian clinicians.
a strong rare disease research network will include the following:
- significant national representation from the clinical genetics research community who are identifying rare disease genes, including linkages with the international community of rare disease researchers
- significant national representation of researchers working with well-established organisms for modeling human disease
- a database infrastructure and informatics tools supporting data sharing with similar international databases
- adherence to irdirc’s policies and procedures.
such a network will also:
- be inclusive, and have a process in place to recruit and integrate new members throughout the term of the grant
- develop a robust process for initiating catalytic functional characterization research projects
to ensure that all interested individuals signal their interest and have the opportunity to participate in the network you can use the icpermed partnering tool, which facilitates networking in personalized medicine research.
the funded network will be invited to participate in the activities of irdirc.
funds available
cihr and partner(s) financial contributions for this initiative are subject to availability of funds. should cihr or partner(s) funding levels not be available or are decreased due to unforeseen circumstances, cihr and partner(s) reserve the right to reduce, defer or suspend financial contributions to grants received as a result of this funding opportunity.
- the total amount available from cihr for this funding opportunity is $1,120,000, in addition, up to $560,000 is being provided by genome canada, enough to fund one (1) national network. this amount may increase if additional funding partners participate.
- the maximum amount to fund one (1) national network is $420,000 per year for up to 4 years.