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.
- Farhangdoost, N, Horth, C, Hu, B, Bareke, E, Chen, X, Li, Y et al.. Chromatin dysregulation associated with NSD1 mutation in head and neck squamous cell carcinoma. Cell Rep. 2021;34 (8):108769. doi: 10.1016/j.celrep.2021.108769. PubMed PMID:33626351 PubMed Central PMC8006058.
- Rajagopalan, KN, Chen, X, Weinberg, DN, Chen, H, Majewski, J, Allis, CD et al.. Depletion of H3K36me2 recapitulates epigenomic and phenotypic changes induced by the H3.3K36M oncohistone mutation. Proc Natl Acad Sci U S A. 2021;118 (9):. doi: 10.1073/pnas.2021795118. PubMed PMID:33619101 PubMed Central PMC7936350.
- Beauchamp, MC, Djedid, A, Bareke, E, Merkuri, F, Aber, R, Tam, AS et al.. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. Hum Mol Genet. 2021; :. doi: 10.1093/hmg/ddab051. PubMed PMID:33601405 .
- Rezaei, M, Suresh, B, Bereke, E, Hadipour, Z, Aguinaga, M, Qian, J et al.. Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure. Clin Genet. 2021; :. doi: 10.1111/cge.13941. PubMed PMID:33583041 .
- França, JA, Gayden, T, Bareke, E, Santos, JN, de Sousa, SF, Bastos-Rodrigues, L et al.. Whole-exome sequencing reveals novel vacuolar ATPase genes' variants and variants in genes involved in lysosomal biology and autophagosomal formation in oral granular cell tumors. J Oral Pathol Med. 2020; :. doi: 10.1111/jop.13148. PubMed PMID:33289181 .
- Harutyunyan, AS, Chen, H, Lu, T, Horth, C, Nikbakht, H, Krug, B et al.. H3K27M in Gliomas Causes a One-Step Decrease in H3K27 Methylation and Reduced Spreading within the Constraints of H3K36 Methylation. Cell Rep. 2020;33 (7):108390. doi: 10.1016/j.celrep.2020.108390. PubMed PMID:33207202 PubMed Central PMC7703850.
- Gauquelin, L, Hartley, T, Tarnopolsky, M, Dyment, DA, Brais, B, Geraghty, MT et al.. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Mov Disord Clin Pract. 2020;7 (8):940-949. doi: 10.1002/mdc3.13086. PubMed PMID:33163565 PubMed Central PMC7604675.
- Cavallone, L, Aguilar-Mahecha, A, Lafleur, J, Brousse, S, Aldamry, M, Roseshter, T et al.. Prognostic and predictive value of circulating tumor DNA during neoadjuvant chemotherapy for triple negative breast cancer. Sci Rep. 2020;10 (1):14704. doi: 10.1038/s41598-020-71236-y. PubMed PMID:32895401 PubMed Central PMC7477566.
- 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;43 (6):1321-1332. doi: 10.1002/jimd.12278. PubMed PMID:32588908 PubMed Central PMC7689772.