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

• Rezaei, M, Liang, M, Yalcin, Z, Martin, JH, Kazemi, P, Bareke, E et al.. Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles. J Clin Invest. 2024;134 (22):. doi: 10.1172/JCI170669. PubMed PMID:39545410 PubMed Central PMC11563684.
• Shipman, GA, Padilla, R, Horth, C, Hu, B, Bareke, E, Vitorino, FN et al.. Systematic perturbations of SETD2, NSD1, NSD2, NSD3, and ASH1L reveal their distinct contributions to H3K36 methylation. Genome Biol. 2024;25 (1):263. doi: 10.1186/s13059-024-03415-3. PubMed PMID:39390582 PubMed Central PMC11465688.
• Kumar, S, Bareke, E, Lee, J, Carlson, E, Merkuri, F, Schwager, EE et al.. Etiology of craniofacial and cardiac malformations in a mouse model of SF3B4-related syndromes. Proc Natl Acad Sci U S A. 2024;121 (39):e2405523121. doi: 10.1073/pnas.2405523121. PubMed PMID:39292749 PubMed Central PMC11441570.
• Drogaris, C, Zhang, Y, Zhang, E, Nazarova, E, Sarrazin-Gendron, R, Wilhelm-Landry, S et al.. ARGV: 3D genome structure exploration using augmented reality. BMC Bioinformatics. 2024;25 (1):277. doi: 10.1186/s12859-024-05882-8. PubMed PMID:39192184 PubMed Central PMC11348660.
• Johnston, MJ, Lee, JJY, Hu, B, Nikolic, A, Hasheminasabgorji, E, Baguette, A et al.. TULIPs decorate the three-dimensional genome of PFA ependymoma. Cell. 2024;187 (18):4926-4945.e22. doi: 10.1016/j.cell.2024.06.023. PubMed PMID:38986619 .
• Liang, M, Suresh, B, Bareke, E, Choufani, S, Jagadeesh, S, Weksberg, R et al.. A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage. Mol Genet Genomic Med. 2024;12 (2):e2402. doi: 10.1002/mgg3.2402. PubMed PMID:38400599 PubMed Central PMC10891434.
• Leszczynska, KB, Freitas-Huhtamäki, A, Jayaprakash, C, Dzwigonska, M, Vitorino, FNL, Horth, C et al.. H2A.Z histone variants facilitate HDACi-dependent removal of H3.3K27M mutant protein in pediatric high-grade glioma cells. Cell Rep. 2024;43 (2):113707. doi: 10.1016/j.celrep.2024.113707. PubMed PMID:38306270 PubMed Central PMC11026119.
• Yalcin, Z, Liang, M, Abdelrazek, IM, Friedrich, C, Bareke, E, Nabil, A et al.. A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility. J Assist Reprod Genet. 2024;41 (3):751-756. doi: 10.1007/s10815-024-03031-x. PubMed PMID:38277113 PubMed Central PMC10957843.
• Aguilar-Mahecha, A, Alirezaie, N, Lafleur, J, Bareke, E, Przybytkowski, E, Lan, C et al.. The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers. Genes (Basel). 2023;15 (1):. doi: 10.3390/genes15010027. PubMed PMID:38254917 PubMed Central PMC10815241.
• 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;104 (6):686-693. doi: 10.1111/cge.14416. PubMed PMID:37574199 .