Jacek Majewski

Jacek Majewski

Associate Professor, Department of Human Genetics

Email: jacek.majewski@mcgill.ca
Phone: (514) 398-3311 x00891

740 Dr Penfield Ave, Room 7210
Montréal, Québec, Canada, H3A 0G1

Website

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.

Recent Publications

• Hautakangas, MR, Widgren, P, Korpelainen, P, Kangas, SM, Komulainen, T, Vieira, P et al.. Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant. Clin Genet. 2023; :. doi: 10.1111/cge.14416. PubMed PMID:37574199 .
• Kumar, S, Alam, SS, Bareke, E, Beauchamp, MC, Dong, Y, Chan, W et al.. Sf3b4 regulates chromatin remodeler splicing and Hox expression. Differentiation. 2023;131 :59-73. doi: 10.1016/j.diff.2023.04.004. PubMed PMID:37167859 .
• Zwaig, M, Baguette, A, Hu, B, Johnston, M, Lakkis, H, Nakada, EM et al.. Detection and genomic analysis of BRAF fusions in Juvenile Pilocytic Astrocytoma through the combination and integration of multi-omic data. BMC Cancer. 2022;22 (1):1297. doi: 10.1186/s12885-022-10359-z. PubMed PMID:36503484 PubMed Central PMC9743522.
• Li, Y, Goldberg, EM, Chen, X, Xu, X, McGuire, JT, Leuzzi, G et al.. Histone methylation antagonism drives tumor immune evasion in squamous cell carcinomas. Mol Cell. 2022;82 (20):3901-3918.e7. doi: 10.1016/j.molcel.2022.09.007. PubMed PMID:36206767 PubMed Central PMC9588679.
• 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 PubMed Central PMC9451151.
• 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;82 (19):3499-3515. 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.