Bartha Knoppers

Bartha Maria Knoppers

Professor, Centre of Genomics and Policy, McGill University

Email: bartha.knoppers@mcgill.ca
Phone: (514) 398-8866

740 Dr Penfield Ave, Room 5214
Montréal, Québec, Canada, H3A 0G1

Website

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.

Recent Publications

• Bernier, A, Knoppers, BM, Bermudez, P, Beauvais, MJS, Thorogood, A, CONP Consortium et al.. Open Data governance at the Canadian Open Neuroscience Platform (CONP): From the Walled Garden to the Arboretum. Gigascience. 2024;13 :. doi: 10.1093/gigascience/giad114. PubMed PMID:38217404 PubMed Central PMC10787360.
• Friedman, JM, Bombard, Y, Carleton, B, Issa, AM, Knoppers, B, Plon, SE et al.. Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?. Genet Med. 2024;26 (2):101033. doi: 10.1016/j.gim.2023.101033. PubMed PMID:38007624 .
• Baltzan, I, Knoppers, BM, Nemetz, ETA, Lerner-Ellis, J, Bernier, A, Devon, K et al.. The Deceased, Public Health, and Research: Proposing Legal Reforms. Biopreserv Biobank. 2023; :. doi: 10.1089/bio.2023.0026. PubMed PMID:37943606 .
• Hartley, T, Marshall, D, Acker, M, Fooks, K, Gillespie, MK, Price, EM et al.. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study. Genet Med. 2024;26 (2):101012. doi: 10.1016/j.gim.2023.101012. PubMed PMID:37924259 .
• Marshall, AE, Liang, Y, Couse, M, McConkey, H, Care4Rare Canada Consortium, Sadikovic, B et al.. Integrated omics analyses clarifies ATRX copy number variant of uncertain significance. J Hum Genet. 2024;69 (2):101-105. doi: 10.1038/s10038-023-01203-8. PubMed PMID:37904029 .
• Knoppers, BM, Chase, S, Joly, Y, Zawati, M, Thorogood, A. Responsible Processing and Sharing of Genomic Data: Bringing Health Technologies Industries to the Table. Am J Bioeth. 2023;23 (11):33-35. doi: 10.1080/15265161.2023.2256254. PubMed PMID:37879015 .
• COVID-19 Host Genetics Initiative. A second update on mapping the human genetic architecture of COVID-19. Nature. 2023;621 (7977):E7-E26. doi: 10.1038/s41586-023-06355-3. PubMed PMID:37674002 PubMed Central PMC10482689.
• Lapointe, J, Côté, JM, Mbuya-Bienge, C, Dorval, M, Pashayan, N, Chiquette, J et al.. Canadian Healthcare Professionals' Views and Attitudes toward Risk-Stratified Breast Cancer Screening. J Pers Med. 2023;13 (7):. doi: 10.3390/jpm13071027. PubMed PMID:37511640 PubMed Central PMC10381377.
• Harding, RJ, Bermudez, P, Bernier, A, Beauvais, M, Bellec, P, Hill, S et al.. The Canadian Open Neuroscience Platform-An open science framework for the neuroscience community. PLoS Comput Biol. 2023;19 (7):e1011230. doi: 10.1371/journal.pcbi.1011230. PubMed PMID:37498959 PubMed Central PMC10374086.
• Moreno, PG, Knoppers, T, Zawati, MH, Lang, M, Knoppers, BM, Wolfson, M et al.. Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context. Hum Genet. 2023;142 (7):981-994. doi: 10.1007/s00439-023-02576-8. PubMed PMID:37365297 PubMed Central PMC10329579.