A5068441562- Genomics and Rare Diseases
- Ethics in Clinical Research
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Prenatal Screening and Diagnostics
- Research Data Management Practices
- Scientific Computing and Data Management
- Biomedical Ethics and Regulation
- RNA modifications and cancer
- Health Systems, Economic Evaluations, Quality of Life
- Data Quality and Management
- CRISPR and Genetic Engineering
- Genetic factors in colorectal cancer
- Ethics and Legal Issues in Pediatric Healthcare
- Biomedical Text Mining and Ontologies
- Genetics, Bioinformatics, and Biomedical Research
- Genomics and Chromatin Dynamics
- RNA Research and Splicing
- Organ Donation and Transplantation
- Child and Adolescent Health
- Cultural Insights and Digital Impacts
- Pharmaceutical studies and practices
- Historical and Literary Analyses
- Cell Image Analysis Techniques
- Childhood Cancer Survivors' Quality of Life
Icahn School of Medicine at Mount Sinai
2020-2021
Genomic Health (United States)
2020-2021
McGill University
2015-2019
Université Toulouse III - Paul Sabatier
2010-2018
Inserm
2010-2018
McGill Genome Centre
2016-2017
Environmental Law Institute
2017
Université de Montréal
2017
University of Alberta
2017
Ottawa University
2017
Precision medicine (PM) can be defined as a predictive, preventive, personalized, and participatory healthcare service delivery model. Recent developments in molecular biology information technology make PM reality today through the use of massive amounts genetic, 'omics', clinical, environmental, lifestyle data. With cancer being one most prominent public health threats developed countries, both research community governments have been investing significant time, money, efforts precision...
Abstract Background Increasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to utility of genomic testing minority underrepresented populations. The latter a particularly pernicious problem due the historical lack inclusion racially ethnically diverse populations research medicine. A further challenge rapidly changing landscape genetic tests considerations cost, interpretation, diagnostic yield emerging...
PurposeUse of genomic sequencing is increasing at a pace that requires technological solutions to effectively meet the needs growing patient population. We developed GUÍA, web-based application, enhance delivery results and related clinical information patients families.MethodsGUÍA development occurred in five overlapping phases: formative research, content development, stakeholder/community member input, user interface design, web application development. Development was informed by...
Open science can significantly influence the development and translational process of precision medicine in Canada. Precision presents a unique opportunity to improve disease prevention healthcare, as well reduce health-related expenditures. However, also brings about economic challenges, such costly development, high failure rates, reduced market size comparison with traditional blockbuster drug model. science, characterized by principles open data sharing, fast dissemination knowledge,...
Le domaine de la génétique médicale offre une scène intéressante pour étudier le lien entre des avancées technologiques dont portée est à définir, connaissance scientifique en construction et décisions pratiques qui engagent les projets vie patients. L’utilisation nouvelles technologies séquençage du génome humain (Next Generation Sequencing, ngs ) santé alimente débat scientifique, éthique, social juridique. Bien que ces ne fassent pas encore partie boîte outils standard généticien,...
Le domaine de la genetique medicale offre une scene interessante pour etudier le lien entre des avancees technologiques dont portee est a definir, connaissance scientifique en construction et decisions pratiques qui engagent les projets vie patients. L’utilisation nouvelles technologies sequencage du genome humain (Next Generation Sequencing, ngs) sante alimente debat scientifique, ethique, social juridique. Bien que ces ne fassent pas encore partie boite outils standard geneticien, nombreux...
Under the auspices of a multi-national European scientific project involving whole genome sequencing, GEUVADIS, we set out to investigate attitudes participating scientists having their own sequenced. The views such researchers on this subject have not been fully explored before and utilized questionnaires discussion groups elicit opinions. Many said that it was first time they had an opportunity discuss ethical social issues about sequencing. many ongoing science projects present good for...
Making a diagnosis from clinical genomic sequencing requires well-structured phenotypic data to guide genotype interpretation. A patient's features can be documented using the Human Phenotype Ontology (HPO), generating terms used prioritize genes potentially causing disease. We have developed GenomeDiver provide user interface for clinicians that allows more effective collaboration with diagnostic laboratory, goal of improving success process.GenomeDiver uses prompt reverse phenotyping...
(Abstracted from J Obstet Gynaecol Can 2017;39(1):10–17) Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is an exciting new technology with many potential clinical benefits. However, the commercialization of these tests and economic benefits to laboratories that perform have led concern limitations are being downplayed overstated.
The decreasing cost of next-generation sequencing technologies (NGS) has resulted in their increased use research, and the clinic. However, France Quebec have not yet implemented nation-wide personalized medicine programs using NGS. To produce policies on large-scale implementation NGS, decision makers could benefit from a detailed understanding how these are currently used, limitations, benefits they bring to patients. We aimed at answering two research questions: How patients' NGS data...
The RDA-SHARC (SHAring Reward & Credit) interest group is an interdisciplinary volunteer member-based set up as part of RDA (Research Data Alliance) to unpack and improve crediting rewarding mechanisms in the sharing process throughout data life cycle. Background objectives this are reported here. Notably, one promote inclusion activities research (& researchers) assessment scheme at national European levels. To aim, RDA-SHARC-IG developing two grids using criteria establish if compliant...
The SHARC (SHAring Reward & Credit) interest group (IG) is an interdisciplinary set up in the framework of RDA (Research Data Alliance) to improve crediting and rewarding mechanisms sharing process throughout data life cycle. Notably, one objectives promote activities research assessment schemes at national European levels. To this aim, RDA-SHARC IG developing grids using criteria establish if are compliant FAIR principles (findable /accessible / interoperable reusable). The grid aiming be...