Bartha Maria Knoppers
Professor, Centre of Genomics and Policy, McGill University
Phone: (514) 398-8866
740 Dr Penfield Ave, Room 5214
Montréal, Québec, Canada, H3A 0G1
Professor Knoppers is uniquely suited to work on the ethical, legal and policy aspects of this proposed research project. She has made significant contributions to international policymaking and in 2018 alone leads or is co-applicant in 27 grants. Since her presidency of the International Ethics Committee of HUGO (1996 – 2004) and her work with the ASHG Social Issues Committee in the 1990s and in the drafting of UNESCO’s Universal Declaration on the Human Genome and Human Rights (1993-1997), she has led the ethics work of the HapMap as well as the 1000 Genomes projects. From 2000 – 2006 she served as Co-Chair of the Sampling/ELSI Committee of the 1000 Genomes Project (2007-) and as a member of the Scientific Steering Committee of the International Cancer Genome Consortium (ICGC) (2009-2017). She founded the international P3G (Public Population Project in Genomics & Society) and CARTaGENE, Quebec’s national biobank, in 2007. In 2013, she became Chair of the Regulatory and Ethics Working Group, Global Alliance for Genomics and Health (GA4GH) and member of its Steering Committee. She also serves as Director on the Canadian Council of Academics, as a member of the Bioethics Advisory Committee of Canadian Blood Services and gave the prestigious Galton Lecture in 2017, UK. Additionally, she is an Officer of the Order of Canada and of Quebec. In 2019, she was awarded the Henry G. Friesen International Prize in Health Research and was appointed to the International Commission on the Clinical Use of Human Germline Genome Editing.
- Rahimzadeh, V, Bartlett, G, Knoppers, BM. A policy Delphi study to validate the key implications of data sharing (KIDS) framework for pediatric genomics in Canada. BMC Med Ethics. 2021;22 (1):71. doi: 10.1186/s12910-021-00635-1. PubMed PMID:34107925 PubMed Central PMC8191056.
- Grant, P, Langlois, S, Lynd, LD, GenCOUNSEL Study, Austin, JC, Elliott, AM et al.. Out-of-pocket and private pay in clinical genetic testing: a scoping review. Clin Genet. 2021; :. doi: 10.1111/cge.14006. PubMed PMID:34080181 .
- Shemie, G, Nguyen, MT, Wallenburg, J, Ratjen, F, Knoppers, BM. The Equitable Implementation of Cystic Fibrosis Personalized Medicines in Canada. J Pers Med. 2021;11 (5):. doi: 10.3390/jpm11050382. PubMed PMID:34067090 PubMed Central PMC8151662.
- Povysil, G, Butler-Laporte, G, Shang, N, Wang, C, Khan, A, Alaamery, M et al.. Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19. J Clin Invest. 2021; :. doi: 10.1172/JCI147834. PubMed PMID:34043590 .
- Beauvais, MJS, Knoppers, BM. Coming Out to Play: Privacy, Data Protection, Children's Health, and COVID-19 Research. Front Genet. 2021;12 :659027. doi: 10.3389/fgene.2021.659027. PubMed PMID:33936177 PubMed Central PMC8080022.
- Mighton, C, Smith, AC, Mayers, J, Tomaszewski, R, Taylor, S, Hume, S et al.. Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository. J Med Genet. 2021; :. doi: 10.1136/jmedgenet-2021-107738. PubMed PMID:33875564 .
- Beauvais, MJS, Thorogood, AM, Szego, MJ, Sénécal, K, Zawati, MH, Knoppers, BM et al.. Parental Access to Children's Raw Genomic Data in Canada: Legal Rights and Professional Responsibility. Front Genet. 2021;12 :535340. doi: 10.3389/fgene.2021.535340. PubMed PMID:33868358 PubMed Central PMC8044527.
- Beauvais, MJS, Knoppers, BM, Illes, J. A marathon, not a sprint - neuroimaging, Open Science and ethics. Neuroimage. 2021;236 :118041. doi: 10.1016/j.neuroimage.2021.118041. PubMed PMID:33848622 .
- Wu, Y, Marc, I, Bouchard, L, Ouyang, F, Luo, ZC, Fan, J et al.. Study protocol for the Sino-Canadian Healthy Life Trajectories Initiative (SCHeLTI): a multicentre, cluster-randomised, parallel-group, superiority trial of a multifaceted community-family-mother-child intervention to prevent childhood overweight and obesity. BMJ Open. 2021;11 (4):e045192. doi: 10.1136/bmjopen-2020-045192. PubMed PMID:33795307 PubMed Central PMC8021741.
- Whalen, S, Shaw, M, Mignot, C, Héron, D, Bastaraud, SC, Walti, CC et al.. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021; :. doi: 10.1038/s41431-021-00821-0. PubMed PMID:33603160 .