Associate Professor, Department of Human Genetics
Phone: (514) 398-3311 x00891
740 Dr Penfield Ave, Room 7210
Montréal, Québec, Canada, H3A 0G1
Professor Jacek Majewski received a PhD in Evolutionary Biology from Wesleyan University (1999), a Master’s in Electrical Engineering from Stanford University (1991) and a Bachelor in Physics, also from Stanford (1990). He is Associate Professor, Department of Human Genetics, Faculty of Medicine at McGill University and holds the Canada Research Chair in Statistical Genetics. Prof. Majewski’s research is based on genomics and bioinformatics analysis of high throughput data. The recent revolution in massively parallel DNA sequencing has opened new venues into numerous biomedical problems.
My group specializes in the analysis of high throughput genomics data, with specific applications to human hereditary disease and cancer. My diverse background combining quantitative sciences and biology has become a strong asset in the era of big data in biology. I have a long history of leading projects both as a PI and collaborations in large teams. My participation in collaborative teams resulted in over 200 publications utilizing high throughput sequencing approaches in genetics of disease, cancer, and basic biology My current interests focus on the role of epigenetic dysregulation in cancer. In order to better understand disease states, we have also ventured into exploring the balance of chromatin modification during normally progressing development. As the next frontier, we are also working on integrating classical epigenetic approaches with chromatin conformation data and developing methods to visualize and analyzed chromatin in a three dimensional framework.
- Evans, DR, Green, JS, Fahiminiya, S, Majewski, J, Fernandez, BA, Deardorff, MA et al.. A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. Sci Rep. 2020;10 (1):10827. doi: 10.1038/s41598-020-66978-8. PubMed PMID:32616716 PubMed Central PMC7331723.
- Johnstone, DL, Nguyen, TTM, Zambonin, J, Kernohan, KD, St-Denis, A, Baratang, NV et al.. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. J. Inherit. Metab. Dis. 2020; :. doi: 10.1002/jimd.12278. PubMed PMID:32588908 .
- Nikbakht, H, Jessa, S, Sukhai, MA, Arseneault, M, Zhang, T, Letourneau, L et al.. Latency and interval therapy affect the evolution in metastatic colorectal cancer. Sci Rep. 2020;10 (1):581. doi: 10.1038/s41598-020-57476-y. PubMed PMID:31953485 PubMed Central PMC6969060.
- Kennedy, JM, Georges, A, Bassenden, AV, Vidal, SM, Berghuis, AM, Taniuchi, I et al.. ZBTB7B (ThPOK) Is Required for Pathogenesis of Cerebral Malaria and Protection against Pulmonary Tuberculosis. Infect. Immun. 2020;88 (2):. doi: 10.1128/IAI.00845-19. PubMed PMID:31792077 PubMed Central PMC6977123.
- Meloche, J, Brunet, V, Gagnon, PA, Lavoie, MÈ, Bouchard, JB, Nadaf, J et al.. Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly. Mol Genet Genomic Med. 2020;8 (1):e992. doi: 10.1002/mgg3.992. PubMed PMID:31578829 PubMed Central PMC6978259.
- Sirois, I, Aguilar-Mahecha, A, Lafleur, J, Fowler, E, Vu, V, Scriver, M et al.. A Unique Morphological Phenotype in Chemoresistant Triple-Negative Breast Cancer Reveals Metabolic Reprogramming and PLIN4 Expression as a Molecular Vulnerability. Mol. Cancer Res. 2019;17 (12):2492-2507. doi: 10.1158/1541-7786.MCR-19-0264. PubMed PMID:31537618 .
- Weinberg, DN, Papillon-Cavanagh, S, Chen, H, Yue, Y, Chen, X, Rajagopalan, KN et al.. The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape. Nature. 2019;573 (7773):281-286. doi: 10.1038/s41586-019-1534-3. PubMed PMID:31485078 PubMed Central PMC6742567.
- Wong, C, Chen, F, Alirezaie, N, Wang, Y, Cuggia, A, Borgida, A et al.. A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene. PLoS Genet. 2019;15 (8):e1008344. doi: 10.1371/journal.pgen.1008344. PubMed PMID:31469826 PubMed Central PMC6742418.
- Yuki, KE, Marei, H, Fiskin, E, Eva, MM, Gopal, AA, Schwartzentruber, JA et al.. CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection. Nat Microbiol. 2019;4 (9):1516-1531. doi: 10.1038/s41564-019-0484-8. PubMed PMID:31285585 .
- Beauchamp, MC, Djedid, A, Daupin, K, Clokie, K, Kumar, S, Majewski, J et al.. Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse. PLoS ONE. 2019;14 (7):e0219280. doi: 10.1371/journal.pone.0219280. PubMed PMID:31276534 PubMed Central PMC6611600.