CIHR Research Network: Rare Diseases
Well-being, Health and Biomedical Discovery
Deadlines
Academic Unit: inquire with unit
Memorial Deadline: Monday 18th, April 2022
External Deadline: Thursday 21st, April 2022
Description
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 for validating putative disease genes and for gaining understanding about the functions of unknown genes. Canada has a great deal of fundamental research strength in these areas; however, these research communities have thus far only sporadically engaged with clinical geneticists who work directly with people living with rare genetic diseases.
This program builds on the success of the Research Catalyst Network: Rare Diseases program, initially launched in 2014 in partnership with Genome Canada, which led to the development of the Rare Diseases Models and Mechanisms (RDMM) Network. 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; this is 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 continues to grow, thereby justifying further launches of this program. Moreover, the second launch (RDMM2) inspired and supported the collaborative development of similar initiatives in other countries — enabling international collaboration on genes where no suitable model could be identified in Canada (i.e., about 10% of genes). This network has now provided a powerful incentive for expanded international collaborations between Canadian model organism researchers and clinical geneticists elsewhere; it enabled reciprocal arrangements whereby model organism researchers elsewhere could be funded by other networks to collaborate with Canadian clinicians.
This new funding opportunity will be the third iteration of this program (RDMM3), enabling the broadening of the rare diseases scope to include all inherited genetic diseases and support the entire scope of model systems. The expansion of the RDMM models — to come in line with international partners — should allow for rapid progress in including patient derived tissue and organoid models. This will catalyze new research efforts that target underserved body systems, tissues, or diseases. RDMM3 can also be moved directly to support clinical diagnosis for n=1 patients – where a variant of uncertain significance is identified in a patient that is in a gene known to cause an inherited disease. Overall, this will move the needle towards creating new opportunities for the enhancement of diagnostic rate and accuracy by providing rational, evidence-based foundations from discovering disease variants. In addition, as gene therapies start to become more mainstream, knowing the causal genes for inherited diseases is the first and essential step. This also aligns well with the Government of Canada’s Biomanufacturing strategy of Adeno-associated virus (AAV) vectors being undertaken by the NRC.
Application Deadline: 2022-04-21
More information can be found here.