Canada Lead the Way with Rare Disease Gene Discovery Project

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Canada’s Finding Rare Disease Genes (FORGE) program has released the outcome of the two year project this week in the American Journal of Human Genetics.

The project has brought together researchers from 21 genetics centres across Canada, along with members of 3 research centres. After a nationwide request for disorders to study, the project began to study 264 out of the 371 rare diseases submitted.

So far the project has identified disease causing variants for 146 (55%) of the disorders being studied. These variants include 67 genes that were not previously associated with disease in humans. Of these 67, 41 have been genetically or functionally validated, whilst 26 are still under examination.

According to project lead Dr. Kym Boycott, two trends emerged from their project. The first is that there is significant convergence to a common underlying biological mechanism for overlapping disease phenotypes. This is good news for researchers and developers as these common pathways are prime targets for new treatments that can help a broad spectrum of patients.

The second theme is that alterations in the same pathways can lead to remarkably distinct diseases. For example, causastive variants were found in the same pathway for both SHORT Syndrome (characterised by pysmorphic facies, lipodystrophy and short stature) and megalencephaly malformation syndrome (characterized by over-growth and cellular proliferation).

Researcher also remarked about their surprise in the large number of patients they found genetic variations in that are know to be associated with human disease, but which were missed by the standard investigations carried out by their clinical network. this of course has implications for patient care as recognition of these genes will allow clinicians to better predict the future of a patient’s disease.

With this last point in mind the researchers made a point of sharing their research directly with the patients and families involved. This gives patients and their doctors more information on which to base treatments plans and predictions about the future.

The rewarding part of this project for all involved has been the many lives we’ve impacted…Every result was reported back to the families who participated in the research. The information never stayed in a lab or database. This was highly motivating for the entire teamChandree Beaulieu, project manager of FORGE

Read the commentary for the FORGE project here.

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