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.
- Langouët, M, Jolicoeur, C, Javed, A, Mattar, P, Gearhart, MD, Daiger, SP et al.. Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration. Sci Adv. 2022;8 (36):eabh2868. doi: 10.1126/sciadv.abh2868. PubMed PMID:36070393 .
- Chen, OJ, Castellsagué, E, Moustafa-Kamal, M, Nadaf, J, Rivera, B, Fahiminiya, S et al.. Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer. Cancer Res. 2022; :. doi: 10.1158/0008-5472.CAN-21-3956. PubMed PMID:35913887 .
- Nada, D, Julien, C, Papillon-Cavanagh, S, Majewski, J, Elbakry, M, Elremaly, W et al.. Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis. Sci Rep. 2022;12 (1):12298. doi: 10.1038/s41598-022-16620-6. PubMed PMID:35853984 PubMed Central PMC9296578.
- Nagano, M, Hu, B, Yokobayashi, S, Yamamura, A, Umemura, F, Coradin, M et al.. Nucleome programming is required for the foundation of totipotency in mammalian germline development. EMBO J. 2022;41 (13):e110600. doi: 10.15252/embj.2022110600. PubMed PMID:35703121 PubMed Central PMC9251848.
- Alam, SS, Kumar, S, Beauchamp, MC, Bareke, E, Boucher, A, Nzirorera, N et al.. Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis. Dis Model Mech. 2022;15 (6):. doi: 10.1242/dmm.049544. PubMed PMID:35593225 PubMed Central PMC9235875.
- Oussalah, A, Siblini, Y, Hergalant, S, Chéry, C, Rouyer, P, Cavicchi, C et al.. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clin Epigenetics. 2022;14 (1):52. doi: 10.1186/s13148-022-01271-1. PubMed PMID:35440018 PubMed Central PMC9020039.
- Chen, H, Hu, B, Horth, C, Bareke, E, Rosenbaum, P, Kwon, SY et al.. H3K36 dimethylation shapes the epigenetic interaction landscape by directing repressive chromatin modifications in embryonic stem cells. Genome Res. 2022;32 (5):825-837. doi: 10.1101/gr.276383.121. PubMed PMID:35396277 PubMed Central PMC9104706.
- Biondini, M, Kiepas, A, El-Houjeiri, L, Annis, MG, Hsu, BE, Fortier, AM et al.. HSP90 inhibitors induce GPNMB cell-surface expression by modulating lysosomal positioning and sensitize breast cancer cells to glembatumumab vedotin. Oncogene. 2022;41 (12):1701-1717. doi: 10.1038/s41388-022-02206-z. PubMed PMID:35110681 .
- Fierheller, CT, Guitton-Sert, L, Alenezi, WM, Revil, T, Oros, KK, Gao, Y et al.. A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene. Genome Med. 2021;13 (1):186. doi: 10.1186/s13073-021-00998-5. PubMed PMID:34861889 PubMed Central PMC8642877.
- Yokobayashi, S, Yabuta, Y, Nakagawa, M, Okita, K, Hu, B, Murase, Y et al.. Inherent genomic properties underlie the epigenomic heterogeneity of human induced pluripotent stem cells. Cell Rep. 2021;37 (5):109909. doi: 10.1016/j.celrep.2021.109909. PubMed PMID:34731633 .