Click on the projects to read their summaries.

Development of a Reference Genome Representative of the Population of Quebec (GenoRef-Q) [2019- ]

In our ageing population, the prevalence of many common diseases is increasing and their burden threatens our societies. For instance, cardiovascular diseases remain the leading cause of mortality worldwide. In Canada, more than 1.6 million individuals have heart diseases and direct costs for treating cardiovascular diseases are $7.4 billion per year, the highest for a disease. Hypertension is the most common cardiovascular disease in the world (1.13 billion people) and account for 13 per cent of annual deaths worldwide. Finally, dementia affects 50 million people worldwide and this number is expected to triple by 2050 at an estimated cost for the societies of $4 trillion. These three examples highlight the burden that such diseases represent in our societies, and the need to improve their prognostic, diagnostic and treatment. Precision medicine aims to identify the root causes of diseases in order to tailor prediction, prevention and treatment to each individual. One strategy to achieve this aim is to integrate into clinical care information hidden in the DNA of each person. Whole-genome DNA sequencing is now a robust technique that can reliably read a person’s genome, that is, the information contained in a person’s DNA. Several international efforts are currently ongoing in order to document genetic variation in different human populations.

Our project – the GenoRef-Q Initiative – will sequence the genome of 1900 participants recruited in CARTaGENE, the population-based cohort of the Province of Quebec. This resource will enable multiple precision medicine-related activities and set the stage for future projects led by the new generation of scientists. For example, the GenoRef-Q Initiative will create a comprehensive catalogue of genetic variants found in the population of Quebec, a formidable tool for clinical geneticists and other clinicians to interpret the results of genetic testing and to pinpoint the cause of various genetic diseases. The sequence information will also be useful to decipher existing genetic data and to prioritize further development of more specific drug targets. The GenoRef-Q Initiative will create opportunities for researchers in Quebec, in Canada, and internationally that will foster research in human genetics and precision medicine. This, in turn, will lead to a better understanding of genetic risk in Canadian populations. As such, it is perfectly aligned with the priorities of multiple universities and research centers, as well as the provincial and federal governments.

Another feature of this unique initiative will be carried out in collaboration with the BALSAC population file, a structured tool for tracking the genealogical paths of individuals. Access to such a file paves the way for research that highlights the characteristics of Quebec's population in terms of founding effect, growth, diversity and regional structures. According to Hélène Vézina, director of the BALSAC project and professor at the Université du Québec à Chicoutimi, "the synergy between the GenoRef-Q initiative and BALSAC will not only enhance the project by adding a socio-historical dimension, but will also reaffirm the relevance of the BALSAC project at the dawn of its 50 years of existence".

i-BALSAC: A multisectoral infrastructure for high-resolution mapping of the French-Canadian population [2019-2022]

Three types of requests have been expressed by the scientific community in recent years. First, genomics researchers working with genealogical information want the integration of genealogical and genetic data into a formal and sustainable structure. For the moment, these are only linked to specific projects for a fixed period. Secondly, the extension until the 20th century of the period for which we have a comprehensive reconstruction of the Quebec population established from all civil register certificates (births, marriages and deaths), arouses great interest among researchers on both the social and biological sciences (e.g. studies of evolutionary biology). Finally, in the wake of the spatial turn that has taken place in the social sciences, it seems essential to offer a framework for the analysis and interpretation of the spatial dimension of genealogical and genetic data.

In response to these needs, the BALSAC infrastructure project (i-BALSAC), a dynamic and versatile multi-sector platform for cutting-edge research in biological and social sciences, was developed. The BALSAC population file forms the basis of this infrastructure, which is based on the integration and linking of genealogical, genetic and geographical data. The project also includes the development of analytical and statistical tools (based on the joint exploitation of genealogical and genetic data) and mapping (construction of a historical geographic information system (GIS) that will optimize the use of these datasets. It builds on partnerships with CIEQ and PRDH as well as the research platform CARTaGENE and will pave the way for promising new collaborations, notably with the National Library and Archives of Quebec (BAnQ) for the demographic component and Genome Quebec for the genetics component.

The construction of i-BALSAC will enable high-resolution mapping of the French-Canadian population through a genomic, genealogical and geographical approach, and will provide a historical look at four centuries. It will provide access to a vast set of biographical information located in time and space, allowing the study of populations on the basis of individual trajectories within families and communities from a multigenerational perspective. To our knowledge, no global population has so far been characterized at such a level of accuracy, completeness and temporal depth. The idea of such an infrastructure is particularly appropriate for the French-Canadian population, in particular because of the modalities of its formation (initial founding effect, the presence of interbreeding, diversity of regional settlement histories), the resulting genetic structure and the exceptional quality of genealogical data that have no equivalent in North America. Ultimately, the infrastructure will form a population study laboratory and a place of exchange for researchers from a variety of disciplinary backgrounds. It will address complex research issues based on innovative multidisciplinary studies. Both social and biomedical researchers will benefit from this new research infrastructure. The following sections provide an overview of the research that can be done using i-BALSAC.

Three centuries of francophone migration in North America (1840-1914) [2019-2026]

The project aims to highlight the central place of Francophone migration in the genesis and evolution of North American populations over a period of three centuries. It will nourish reflections on contemporary issues of immigration, cultural diversity and living together. The project aims to examine the impact of migration on the collective and individual experience of Francophones in North America. To do this, the team, made up of partners and participants, is studying: 1) the migratory movements and processes of North American Francophones; 2) the cultural and linguistic circulations that accompanied them; 3) the stories to which they gave rise.

These three axes are analysed from: 1) from an interdisciplinary perspective combining heritage and academic knowledge; 2) a variety of spatial, social and temporal scales; 3) multiple perceptible interactions at both macro and micro levels.

Four groups are the subject of this extensive investigation: 1) the Acadians, whose origins date back to the early 17th century and whose deployment on the Atlantic coast was disrupted by the Great Disturbance (1750-1800); 2) French Canadians, who came from the St. Lawrence Valley from the 17th century onwards and gradually became present throughout North America; 3) the Métis, born of the encounter between Europeans and First Nations, who occupied large swathes of the central and western parts of the continent at the end of the 18th and 19th century; 4) migrants from France, Belgium, Switzerland and Syria (including the territory of present-day Lebanon) who stayed or settled permanently on the continent.

The problem, which is based on the combined analysis of migratory movements and processes, cultural and linguistic circulations, as well as narratives, is original. For the first time, an interdisciplinary team of historians, geographers, demographers, linguists, ethnologists, sociologists, economists and specialists in literary and cultural studies analyses these three components at various temporal, social and spatial scales, using numerous sources and databases.

This large-scale project brings together 41 participants and 27 heritage and academic partners from Canada, the United States and Europe. The 11 heritage partners, with their varied expertise in research and knowledge mobilization, provide intellectual leadership within the team.

The knowledge produced is disseminated with extensive use of recent developments in information and communications technologies, without however renouncing to traditional modes of dissemination. The project culminates with the creation of a bilingual virtual exhibition. In short, it reaches the scientific community, including students, as well as members and clientele of partner organizations, schoolchildren and any public interested in the Francophone presence in North America.

Cohorte participative du Québec (COPAQ) [2019-2021]

The Quebec Participatory Cohort(COPAQ)project launched in January 2022, is a participatory science platform developed jointly with the expertise of BALSAC, which aims to collect data on the Quebec population for scientific research purposes.

COPAQ specifically targets the participation of people who have already completed a genetic test with a private company. These tests, which are usually performed using a saliva sample, gather valuable information about the population. However, this information remains essentially under the control of private companies.

This is why COPAQ offers participants the opportunity to give the scientific community access to the information obtained during these tests, in exchange for additional information on their genetic background and their genealogy. Participants could therefore learn more about the geographic origin of their ancestors, their genealogical links with other participants and, in certain cases, their genetic risk factors by having privileged access to scientific research concerning them.

COPAQ is always looking for participants! Interested in actively contributing to scientific research, find out how to participate: How to participate? | COPAQ

Integrated Infrastructure for Historical Microdata on the Population of Quebec (IMPQ) [2013-2017]

This project is based on a partnership between three entities: the BALSAC Project at the Université du Québec à Chicoutimi (UQAC), the Programme de recherches en démographie historique (PRDH) at the Université de Montréal (UdeM) and the Centre interuniversitaire d'études québécoises (CIEQ) at the Université du Québec à Trois-Rivières (UQTR). These three groups are solidly established in their respective institutions and in the research community in Quebec and Canada.

The implementation of this infrastructure was based on the consolidation of databases on the Quebec population, the oldest dating back to the mid-1960s. These databases were developed mainly from the computerization of Quebec's civil status records (births, marriages and deaths) and handwritten lists from Canadian censuses. In addition, data from seven Canadian nominal censuses for the North Shore, Saguenay and Gaspésie regions as well as the cities of Trois-Rivières and Québec City between 1851 and 1911 were also included. The most innovative aspect of this project is without a doubt the matching of civil status data with census data.

The IMPQ data, accessible here, provides access to a large body of biographical information that allows the study of historical populations based on individual trajectories within families, households, and communities from a multigenerational perspective. Indeed, civil status lends itself to all types of work related to the family (births, deaths, marriages, migrations, intergenerational transmission) or which take into consideration the role of kinship. For their part, nominal censuses allow for studies related to the household (size and composition, roles of members, residential models, socio-professional structures, income, schooling) or micro-level economic strategies. The establishment of links between civil status and censuses on the one hand and between censuses on the other hand will allow studies at an unequalled level of precision on a crucial period in the history of Quebec's population: between the middle of the 19th century and the 1910s, we are indeed witnessing the extension of the ecumene by the progression of agricultural, maritime and forest settlement, the transition to an industrial economy and an accelerated urbanization. It will be possible to look for the first time at the evolution and long-term consequences of phenomena such as cultural diversity, social mobility and inter-community relations. In this respect, one of the most spectacular intellectual spin-offs will be to bring to light the life profiles that are too often overlooked by half of the population: women. To date, in fact, the transformation of women's living conditions throughout their life cycle largely escapes us, since censuses do not provide the maiden names of married women.

Finally, the data also opens up interesting avenues in terms of biodemography, particularly through work on the transmission of the population's biological and socio-cultural traits, which are increasingly being used to analyze individuals' living conditions. Studies on the genetic structure of the Quebec population (inbreeding and kinship, ancestral origins, stratification factors) and on the impact of demographic history on the evolution of local and regional gene pools (distribution and frequency of neutral or disease-associated variants) have until now relied mainly on genealogical lines (and therefore on marriages). The possibility of integrating data from births and deaths or census data into the analyses will allow a closer linkage with current developments in human population genetics.