French-canadian biobank on respiratory diseases and allergy
The French-canadian biobank on respiratory diseases and allergy comprises biological samples and clinical data for 1,448 individuals spread out in 254 extended families. Those families are constituted of the proband, an individual with asthma, and his parents and other members of the family. All the individuals in the biobank are French-canadian of European descent. Those families are composed of 3 to 17 members and the number of people with asthma in each family varies from 1 to 10. The respiratory status was evaluated by following the American Thoracic Society criteria (methacholine challenge, forced expiratory volume in one second (FEV), FEV before and after administration of a bronchodilator). Other clinical parameters were also measure in order to assess a complete portrait of each individual include in the biobank (total IgE level and cell count in whole blood, skin prick test). Finally, an exhaustive questionnaire on respiratory health and environmental exposure was conducted for each participant. A Genome-Wide Association Study (GWAS) was conducted with the Illumina 610K microarray and imputation was performed on those data. The genotypes for 7.8 million single nucleotides polymorphisms are thus available for 1,199 subjects.
In 2015, a follow-up was conducted for 215 individuals from the biobank in order to gather purified cell samples of eosinophils and naïve CD4+ T cells. Methylation levels were assessed by Methyl-capture sequencing as well as transcription levels by sequencing on both cell types. From these individuals, 155 were met in order to perform a novel evaluation of their clinical profile (respiratory capacity, skin prick test, medical history, etc.) to obtain an update on their status as their first participation was more than 15 years ago. The French-canadian biobank on respiratory diseases and allergy now possesses longitudinal data that will allow the identification of epigenetic marks and transcriptomic data associated to the evolution of asthma throughout time.
More than 100 phenotypic data are available for the majority of the participants. For a complete description of the data, please feel free to contact Prof. Laprise.
Peanut allergy trios
Recruitment by the Mother and child university hospital center Sainte-Justine of Montréal allowed to have access to 40 children suffering from peanut allergy and their parents. It was thus possible to obtain DNA from these 120 individuals. These samples are stored and available at the research chair of Prof Laprise and have been used mainly as a validation cohort for several studies of other researchers.
French Canadian Leigh Syndrome
The biobank on lactic acidosis
The biobank on lactic acidosis was established in 2008 at the human genetic laboratory of Prof Catherine Laprise at the Université du Québec à Chicoutimi. This biobank, globally unique, comprises samples from 21 affected individuals (of which 9 are from therapeutic pregnancy termination (TPT)), 14 heterozygous carriers and 27 control individuals (from which 6 are from TPT for other orphan diseases). Fibroblasts isolated from skin biopsies are available (primary and immortalized cell lines) as well as genetic material (DNA and RNA) and tissues from TPT (cortex, brain, cerebellum, liver, kidney, heart, muscle, lung, pancreas). These biological samples are available for all the researchers that are member of the Consortium on lactic acidosis and any other researches whose research project is deemed relevant. The recruiting process is constant and additional biological material is added to the biobank each year.
Epidermolysis bullosa simplex (EBS)
Biobank on epidermolysis bullosa and related diseases
Since 2008, the Biobank on epidermolysis bullosa and related diseases exists at the human genetic laboratory of Prof Catherine Laprise à the université du Québec à Chicoutimi. This biobank includes samples from individuals with epidermolysis bullosa simples paired (for age and sex) with a control individual without this disease or other skin condition, for a total od 20 individuals. For each of them, fibroblasts and keratinocytes cell lines (primary and immortalized) from skin biopsy are available. Furthermore, skin biopsy preserved at ultra-low temperature as well as blood samples and genetic material (DNA and RNA) are also available in this biobank. This biobank also includes induced pluripotent stem cells (iPSC) for certain individuals.