Over the last decade we have witnessed an explosion of discoveries in genetics and genomics that have had a transformative impact on our ability to identify the genetic variants leading to rare single gene disorders, as well as those that are key in the development of common diseases resulting from a complex interplay between multiple genetic and non-genetic risk factors. These include the sequencing of the human genome, the identification of the tens of millions of common genetic variants (differences in the genetic code between individuals), and the genetic structure of the human genome, as well as technological advances that have enabled the testing of millions of variants in a single experiment to technologies that make sequencing an individual’s entire genome possible in just a few days.
One of the most important challenges that we face today is how to translate these important discoveries into better disease prevention and improved health care. Our laboratory has played an integral role in the genetic discoveries outlined above and is working to meet this important challenge. Our group continues to develop and implement new approaches to identify genetic risk factors, determine the biology impacted by these genetic variants and to strive towards integrating all of this information to improve disease diagnosis and treatment options. We apply a variety of genetic, genomic, and integrative biology approaches on a diverse set of cardiovascular, metabolic, and inflammatory diseases. A few of our projects are highlighted below. For a more complete list of our projects and technological platforms please visit our laboratory's websites (see WWW links below).
Azadeh Alikashani M.Sc., Research Assistant, Genetics and Genomics azadeh.alikashani[at]inflammgen.org
Claudine Beauchamp, M.Sc. Research Assistant.Cellular Immunology. claudine.beauchamp[at]inflammgen.org
Gabrielle Boucher, M.Sc. Statistical analyses. gabrielle.boucher[at]inflammgen.org
Marie Chaix, MD. Graduate student. marie-Alexandre.chaix[at]inflammgen.org
Guy Charron, PhD. Project Manager, Integrative Biology. guy.charron[at]inflammgen.org
Sylvain Foisy, PhD. Project Manager, Bioinformatics. sylvain.foisy[at]inflammgen.org
Hugues Gosselin,Research Assistant. Integrative Biology. hugues.gosselin[at]inflammgen.org
Philippe Goyette, PhD, Project Manager, Genetics and Genomics. philippe.goyette[at]inflammgen.org
Frédéric Latour, M.Sc. Bioinformatics. frederic.latour[at]inflammgen.org
Geneviève Lavallée, M.Sc. Research Assistant. Molecular and Cellular Biology. geneviève.lavallée[at]inflammgen.org
Chloé Lévesque, Graduate Student. chloé.lévesque[at]inflammgen.org
Virginie Mercier, Graduate Student. virginie.mercier[at]inflammgen.org
Nicolas Morin, M.Sc. Research Assistant.Molecular Biology. nicolas.morin[at]inflammgen.org
Stevo Radinovic, M.Sc. Research Assistant. Laboratory Automation. stevo.radinovic[at]inflammgen.org
Luis Raphael Silva. Graduate Student. luis Raphael.silva[at]inflammgen.org
Sudden Cardiac Death (SCD)
Despite recent progress in treatment and prevention of coronary heart disease, sudden cardiac death (SCD) remains a major public health problem, with an annual incidence of SCD that ranges from 50 to 100 per 100,000 in the general population. An estimated 80% of all SCDs are associated with coronary disease, 10–15% in the setting of cardiomyopathy and 5% occur in persons with myocarditis, coronary anomalies or ion channelopathies (e.g. long QT/Brugada/short QT syndromes). Our group aims to identify the genetic variants that are important in Mendelian (familial) forms of SCD as well as the more polygenic forms of SCD. The goal of this work is to enable effective prediction and prevention of SCD.
Genetics, Genomics and Integrative Biology of Chronic Inflammatory Diseases
Chronic inflammatory diseases affect as much as five per cent of the world’s population and include diseases such as Crohn’s disease, ulcerative colitis, lupus, and multiple sclerosis. In the last few years we have used genome-wide association studies to identify and validate hundreds of genetic risk factors for these diseases. We have also shown how next generation sequencing (NGS) approaches can be used to identify the causal gene and causal variants within associated loci. While we continue our efforts to systematically identify the broadest set of genetic risk factors and to determine which are disease specific and which play an important role across multiple diseases, we are investing significant effort in bioinformatic, genomic and integrative biology approaches to understanding gene function. The ultimate goal of our work is to translate genetic discoveries into a better understanding of complex biological systems, better clinical & research tools and improved therapies.
Lactic Acidosis/LSFC
Leigh syndrome French Canadian type (LSFC) is an autosomal recessive disorder leading to human cytochrome c oxidase (COX) deficiency. Patients show developmental delay, hypotonia, mild facial dysmorphism, high mortality within first five years of life, due to episodes of severe metabolic acidosis, and coma. The disease is rare worldwide, but common in specific regions of Quebec where the carrier rate is ~1/22 and the disease affects ~1/2000 live births. In 2001, our team mapped the LSFC locus and then in 2003 identified the two mutations in LRPPRC gene that cause the disease, thus enabling prenatal screening. We have since formed a Consortium with members and collaborators across North America and Europe devoted to developing predictive tools and therapeutic strategies to improve the survival and quality of life of LSFC patients.
October 2012: Montreal-led research group awarded $1.8M from U.S. NIH
August 2011: Multiple sclerosis research doubles numbers of associated genes
February 2011: Research links 29 genome regions with common form of IBD
February 2010: Research project on IBD to receive more than $2.3M from CIHR
February 2010: New hope for patients with lactic acidosis
October 2009: Two major projects are chosen by Pfizer-FRSQ Innovation Fund
January 2009: MHI researchers contribute to identify new genetic markers for UC
August 2008: Researchers discover new gene for Lupus and Rheumatoid Arthritis
June 2008: Canadian researchers contribute to major Crohn's disease study
January 2008: International Consortium find major genes for Lupus in women
April 2007: Genome-wide study identifies major genes for Crohn's disease
January 2007: Rioux and his team make list for Top Ten Discoveries of 2006
October 2006: Scientists find gene target that may protect against IBD
Sept 2006: International team analyzes genetic variation in key immune region
Team members
Azadeh Alikashani M.Sc., Research Assistant, Genetics and Genomics azadeh.alikashani[at]inflammgen.org
Claudine Beauchamp, M.Sc. Research Assistant.Cellular Immunology. claudine.beauchamp[at]inflammgen.org
Gabrielle Boucher, M.Sc. Statistical analyses. gabrielle.boucher[at]inflammgen.org
Marie Chaix, MD. Graduate student. marie-Alexandre.chaix[at]inflammgen.org
Guy Charron, PhD. Project Manager, Integrative Biology. guy.charron[at]inflammgen.org
Sylvain Foisy, PhD. Project Manager, Bioinformatics. sylvain.foisy[at]inflammgen.org
Hugues Gosselin,Research Assistant. Integrative Biology. hugues.gosselin[at]inflammgen.org
Philippe Goyette, PhD, Project Manager, Genetics and Genomics. philippe.goyette[at]inflammgen.org
Frédéric Latour, M.Sc. Bioinformatics. frederic.latour[at]inflammgen.org
Geneviève Lavallée, M.Sc. Research Assistant. Molecular and Cellular Biology. geneviève.lavallée[at]inflammgen.org
Chloé Lévesque, Graduate Student. chloé.lévesque[at]inflammgen.org
Virginie Mercier, Graduate Student. virginie.mercier[at]inflammgen.org
Nicolas Morin, M.Sc. Research Assistant.Molecular Biology. nicolas.morin[at]inflammgen.org
Stevo Radinovic, M.Sc. Research Assistant. Laboratory Automation. stevo.radinovic[at]inflammgen.org
Luis Raphael Silva. Graduate Student. luis Raphael.silva[at]inflammgen.org
Research projects
Sudden Cardiac Death (SCD)
Despite recent progress in treatment and prevention of coronary heart disease, sudden cardiac death (SCD) remains a major public health problem, with an annual incidence of SCD that ranges from 50 to 100 per 100,000 in the general population. An estimated 80% of all SCDs are associated with coronary disease, 10–15% in the setting of cardiomyopathy and 5% occur in persons with myocarditis, coronary anomalies or ion channelopathies (e.g. long QT/Brugada/short QT syndromes). Our group aims to identify the genetic variants that are important in Mendelian (familial) forms of SCD as well as the more polygenic forms of SCD. The goal of this work is to enable effective prediction and prevention of SCD.
Genetics, Genomics and Integrative Biology of Chronic Inflammatory Diseases
Chronic inflammatory diseases affect as much as five per cent of the world’s population and include diseases such as Crohn’s disease, ulcerative colitis, lupus, and multiple sclerosis. In the last few years we have used genome-wide association studies to identify and validate hundreds of genetic risk factors for these diseases. We have also shown how next generation sequencing (NGS) approaches can be used to identify the causal gene and causal variants within associated loci. While we continue our efforts to systematically identify the broadest set of genetic risk factors and to determine which are disease specific and which play an important role across multiple diseases, we are investing significant effort in bioinformatic, genomic and integrative biology approaches to understanding gene function. The ultimate goal of our work is to translate genetic discoveries into a better understanding of complex biological systems, better clinical & research tools and improved therapies.
Lactic Acidosis/LSFC
Leigh syndrome French Canadian type (LSFC) is an autosomal recessive disorder leading to human cytochrome c oxidase (COX) deficiency. Patients show developmental delay, hypotonia, mild facial dysmorphism, high mortality within first five years of life, due to episodes of severe metabolic acidosis, and coma. The disease is rare worldwide, but common in specific regions of Quebec where the carrier rate is ~1/22 and the disease affects ~1/2000 live births. In 2001, our team mapped the LSFC locus and then in 2003 identified the two mutations in LRPPRC gene that cause the disease, thus enabling prenatal screening. We have since formed a Consortium with members and collaborators across North America and Europe devoted to developing predictive tools and therapeutic strategies to improve the survival and quality of life of LSFC patients.
Publications
Links
Integrative Genomic Medicine
The Laboratory for Genetics and Genomics Medicine of Inflammation
Awards and Recognition
October 2012: Montreal-led research group awarded $1.8M from U.S. NIH
August 2011: Multiple sclerosis research doubles numbers of associated genes
February 2011: Research links 29 genome regions with common form of IBD
February 2010: Research project on IBD to receive more than $2.3M from CIHR
February 2010: New hope for patients with lactic acidosis
October 2009: Two major projects are chosen by Pfizer-FRSQ Innovation Fund
January 2009: MHI researchers contribute to identify new genetic markers for UC
August 2008: Researchers discover new gene for Lupus and Rheumatoid Arthritis
June 2008: Canadian researchers contribute to major Crohn's disease study
January 2008: International Consortium find major genes for Lupus in women
April 2007: Genome-wide study identifies major genes for Crohn's disease
January 2007: Rioux and his team make list for Top Ten Discoveries of 2006
October 2006: Scientists find gene target that may protect against IBD
Sept 2006: International team analyzes genetic variation in key immune region