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Current institution
Santé Qc
Current position
- Conseiller
Publications
Publications (40)
Importance
Governments worldwide have become increasingly cognizant of the spread of genetic discrimination (negative treatment or harm on the basis of actual or presumed genetic characteristics). Despite efforts by a number of governments to establish regulations addressing this phenomenon, public concern about genetic discrimination persists.
Ob...
Epigenetic research has brought several important technological achievements, including identifying epigenetic clocks and signatures, and developing epigenetic editing. The potential military applications of such technologies we discuss are stratifying soldiers’ health, exposure to trauma using epigenetic testing, information about biological clock...
Purpose
Health care professionals are expected to take on an active role in the implementation of risk-based cancer prevention strategies. This study aimed to explore health care professionals’ (1) self-reported familiarity with the concept of polygenic risk score (PRS), (2) perceived level of knowledge regarding risk-stratified breast cancer (BC)...
Genetic discrimination (GD) is the differential or unfair profiling of an individual based on genetic data. This article summarizes the actions of the Genetic Discrimination Observatory (GDO) in addressing GD, and recent developments in GD since late 2020. It shows GD can take many forms in today’s rapidly evolving society.
Genetic discrimination (GD) is the differential or unfair profiling of an individual on the basis of genetic data. This article summarizes the actions of the Genetic Discrimination Observatory (GDO) in addressing GD and recent developments in GD since late 2020. It shows how GD can take many forms in today’s rapidly evolving society.
The success of risk-stratified approaches in improving population-based breast cancer screening programs depends in no small part on women’s buy-in. Fear of genetic discrimination (GD) could be a potential barrier to genetic testing uptake as part of risk assessment. Thus, the objective of this study was twofold. First, to evaluate Canadian women’s...
Recent advancements in genetic technologies have made genetic information increasingly sought out in a wide range of non‐therapeutic contexts, which has increased the risk that such information be used to discriminate against individuals. Frequently, it is genetic counselors who have to respond to questions about genetic discrimination (GD) from wo...
Risk-stratified screening for breast cancer (BC) is increasingly considered as a promising approach. However, its implementation is challenging and needs to be acceptable to women. We examined Canadian women’s attitudes towards, comfort level about, and willingness to take part in BC risk-stratified screening. We conducted an online survey in women...
Genetic discrimination is one of the most pervasive challenges resulting from research and development in human genetics. To collaboratively study and prevent this ethical issue, we established an international Genetic Discrimination Observatory comprising a network of researchers and stakeholders from more than 19 jurisdictions.
La recherche empirique sur la problématique de la discrimination génétique (DG) au Québec est généralement limitée. À ce titre, cette étude vise, au moyen d’une méthodologie qualitative, à explorer et à recueillir les opinions, les expériences et les connaissances des Québécois à l’égard de la DG. En concordance avec les objectifs exploratoires de...
The participation of individuals who lack decision-making capacity is essential for advancing genomics research and neuroscience, but raises ethical and legal challenges relating to vulnerability, consent, and exclusion. Capacity differences between populations and individuals, the dynamics of capacity over time, and evolving legal consent and capa...
In this commentary, we critically review the Quebec Court of Appeal’s reference decision to the effect that the Genetic Non-Discrimination Act (GNDA) is unconstitutional. In sum, the court held that the federal government exceeded its criminal law power through the GNDA, as the Act did not have a valid criminal law purpose. The decision was met wit...
Efforts are underway to harmonise the return of individual results and incidental findings from whole genome sequencing (WGS) across research contexts and countries. We reviewed international, regional and national laws and policies applying to return across 20 countries to identify areas of convergence and divergence. Discrepancies between laws an...
Consent is generally required for research and sharing rich individual-level data but presents additional ethical and legal challenges where participants have diminished decision-making capacity. We formed a multi-disciplinary team to develop best practices for consent in data-intensive dementia research. We recommend that consent processes for res...
Salmonella is one of the oldest bacteria known to man, yet it is also one of the most prevalent when it comes to foodborne-related diseases and outbreaks. Naturally present in the environment and difficult to treat on fresh produce, Salmonella represents an important food safety challenge. Emerging technologies such as whole genome sequencing (WGS)...
Genetic stratification approaches in personalized medicine may considerably improve our ability to predict breast cancer risk for women at higher risk of developing breast cancer. Notwithstanding these advantages, concerns have been raised about the use of the genetic information derived in these processes, outside of the research and medical healt...
Background: With the use of next generation sequencing technologies, translational research is becoming a catalyst for the implementation of personalized medicine (PM). To implement PM, we will also need to ensure that sensitive results are shared, used and returned to the participants in compliance with applicable ethical and legal frameworks. Fur...
Background: With the use of next generation sequencing technologies, translational research is becoming a catalyst for the implementation of personalized medicine (PM). To implement PM, we will also need to ensure that sensitive results are shared, used and returned to the participants in compliance with applicable ethical and legal frameworks. Fur...
Context:
Biobanks are important resources which enable large-scale genomic research with human samples and data, raising significant ethical concerns about how participants' information is managed and shared. Three previous studies of the Canadian public's opinion about these topics have been conducted. Building on those results, an online survey...
Strategy, Management and Health Policy
Enabling Technology, Genomics, Proteomics
Preclinical Research
Postmarketing Phase IV
Healthcare‐related bioinformatics databases are increasingly offering the possibility to maintain, organize, and distribute DNA sequencing data. Different national and international institutions are currently hosting such d...
In June 2013, Canadian Blood Services (CBS) established the National Public Cord Blood Bank (NPCBB) accessible to Canadian and international patients and researchers. The NPCBB promotes efforts that contribute to research and improved clinical care by making units not suitable for banking or transplantation available for research. In the context of...
Graded distributions of netrin and semaphorin guidance cues convey instructive polarity information to migrating cells and growth cones, but also have permissive (i.e. non-polarity determining) functions in mammalian development and repair. The permissive functions of these cues are largely uncharacterised at a molecular level. We found previously...
Netrin and semaphorin axon guidance cues have been found to function in the genesis of several mammalian organs, however, little is known about the underlying molecular mechanisms involved. A genetic approach could help to reveal the underpinnings of these mechanisms. The most anterior ray sensillum (ray 1) in the Caenorhabditis elegans male tail i...
Dystonia musculorum is a hereditary mouse neurodegenerative disorder that primarily affects the sensory arm of the nervous system. We have recently cloned and identified a candidate gene for this disorder and designated it dystonin. The sequence of dystonin predicts a rod-shaped cytoskeletal-associated protein with an actin-binding domain at the N-...
Vulva development in C. elegans involves cell fate specification followed by a morphogenesis phase in which homologous mirror image pairs within a linear array of primordial vulva cells form a crescent shape as they move sequentially towards a midline position within the array. The homologous pairs from opposite half vulvae in fixed sequence fuse w...
Plexins are functional receptors for Semaphorin axon guidance cues. Previous studies have established that some Plexins directly bind RAC(GTP) and RHO. Recent work in C. elegans showed that semaphorin 1 (smp-1 and smp-2) and plexin 1 (plx-1) are required to prevent anterior displacement of the ray 1 cells in the male tail (Fujii et al., 2002; Ginzb...
Dystonia musculorum (dt) was originally described as a hereditary sensory neurodegeneration syndrome of the mouse. The gene defective in dt encodes a cytoskeletal linker protein, dystonin, that is essential for maintaining neuronal cytoskeletal integrity. In addition to the nervous system, dystonin is expressed in a variety of other tissues, includ...
The mouse neurological mutant dystonia musculorum (dt) suffers from a hereditary sensory neuropathy. We have previously described the cloning and characterization of the dt gene, which we named dystonin (Dst). We had shown that dystonin is a neural isoform of bullous pemphigoid antigen 1 (Bpag1) with an N-terminal actin-binding domain. It has been...
Dystonia musculorum (dt) is an inherited neurodegenerative disorder in mice. The dt gene product, dystonin, contains the bullous pemphigoid antigen 1 coding region at its C-terminus and an actin binding domain at its N-terminus. We demonstrate that dystonin expression throughout mouse development predominates in neurons of the cranial and spinal se...
Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to a sensory ataxia. We have identified and cloned a gene encoded at the dt locus. The product of the dt gene, dystonin, is a neural isoform of a hemidesmosomal protein bullous pemphigoid antigen 1 (bpag1). To investigate the potential role of dystonin in human ne...
Immunoprecipitation (IP) of radiolabeled PMN extracts was used as the gold standard for anti-proteinase 3 (PR-3) autoantibody detection to validate immunofluorescence (IF) and alpha granule (alpha) ELISA. A myeloperoxidase (MPO) ELISA was also used in parallel. We studied 48 patients with strictly defined vasculitic syndromes in the initial active...
Atypical (A) ANCA immunofluorescence (IF) patterns have been described in several disease groups. We have previously reported a distinct cytoplasmic A-ANCA in 7–10% of patients with SLE and/or RA. Here, we show that these rheumatic disease associated A-ANCAs are best identified using U937 cells as substrate and that they do not target either a seri...
Thèse (Ph. D.)--Université de Montréal, 1998. Comprend des réf. bibliogr.