Prof. Majewski’s group designs analytical methods and collaborates with basic researchers and clinicians to identify the factors underlying human genetic disorders. The approaches include RNA sequencing, exome sequencing, and whole genome sequencing, with specific applications to Mendelian disorders, complex traits, and cancer.

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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.

See Our Publications

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ONcohistones, et al

Several years ago, our group was involved in identifying mutations in histone genes, H3K27M and H3G34R, as frequent driver lesions in pediatric glioblastoma. Later, we found H3K36M mutations in sarcomas and head and neck squamous cell carcinomas. Mutation in histone genes have also been found in leukemias and bone tumors. Since those original discoveries, we have been using whole genome approaches to understand the molecular pathways through which “oncohistones” participate in carcinogenesis. This project is an international collaboration funded by the NIH, along with the labs of Dr. David Allis (Rockefeller, NY), Dr. Tom Muir (Princeton, NJ), Dr. Ben Garcia (UPenn, PA), Dr. Peter Lewis (Madison), and Dr. Nada Jabado (McGill). Our group focuses on the application of epigenome profiling techniques, such as ChIP seq and WGBS to identify epigenetic aberrations and RNA sequencing to connect them with their downstream transcriptomic consequences. More details here

Epigenetics of pediatric brain tumours

While rare, paediatric brain tumors are extremely deadly. Along with our collaborators, we have shown that the molecular mechanisms driving paediatric tumors are generally distinct from those underlying their adult equivalents. Most oncohistone mutations are unique to childhood cancers. The C19MC micro RNA cluster fusion is the unique driver of embryonal tumors with multilayered rosettes. Ependymomas and medulloblastomas have their own sets of specific driver mutations, and they often affect the epigenome. This project, funded by Genome Canada and CIHR is a collaboration with Dr. Michael Taylor’s lab (Sick Kids, Toronto), Dr. Nada Jabado’s lab (McGill) and many bioinformatics and genomics experts across Canada. The project also contains drug development, ethics, health economics subcomponents. Our group is particularly interested in the dependencies between different epigenetic modifications, particularly those occurring at the H3K36 and H3K27 residues, and DNA methylation. We use genomics and analytical approaches in cell lines and mouse models to elucidate those interrelationships. More details here

3D Epigenomics

This project aims to bridge the gaps between the 1D and 3D genomic paradigms. Since the release of the first contiguous DNA genomic DNA sequences, towards the end of the last millennium, the ever-growing genomics community has largely considered the genome as a series of linear, 1-dimensional strings. As our knowledge and technologies mature, we are becoming increasingly aware that DNA is not a simple double stranded molecule, it is wrapped around a nucleosome core whose modifications impose specific flavours to its properties, and finally that this chromatin structure has a spatial, 3-dimensional component which further determines, or perhaps reflects the underlying molecular processes. In the recent years, this spatial paradigm has been brought to light by technologies such as Hi-C, which allow us to profile genome-wide patterns in chromatin architecture. While many “epigenomicists” are aware of the progress in the 3D field and are eager to incorporate this information in their work, it is not trivial to make a transition from the classical, 1D way of thinking to the 3D world. On the chromatin conformation side, while some methodological approaches have been accepted by the community, relatively few methods exist that incorporate epigenetic information or allow for statistical hypothesis testing. This Genome Canada funded project is a collaboration with Dr. Mathieu Blanchette and Dr. Jerome Waldispuhl. Among its aims are the implementation of a Virtual Reality based 3D epigenome browser, development of robust statistics for 3D epigenome analysis, and application of those methods to the analysis of real data. More details here

alternative splicing

Our earlier work on applications of exome and genome sequencing to elucidate the genetic causes of rare disease has identified several disorders caused by mutations in components of the spliceosome. Those include mutations in SNRPB, which cause Cerebrocostomandibular syndrome, mutations in EFTUD2 causing Mandibulofacial dysostosis, and mutation in SF3B4 causing Nager Syndrome. We are following up on figuring out how mutations in constitutively expressed spliceosomal proteins result in such specific developmental phenotypes. This work is funded by CIHR in collaboration with Dr. Jerome-Majewska. We are using CRISPR genome editing to introduce the mutation in mouse models we study their consequences using both classical and genomic approaches, with the focus of our group being on RNA seq analysis and categorizing the changes to splicing patterns in mutant animals. More details here


care for rare

CARE for RARE is a pan-Canadian collaborative team of clinicians, bioinformaticians, scientists and researchers building upon the infrastructure and discoveries of the FORGE Canada (Finding of Rare Disease Genes) project. The goal of CARE for RARE is to improve clinical care for patients and families affected by rare diseases. This will be done by expanding and improving the diagnosis and treatment of rare diseases. More details here

biomarkers for pediatric glioblastoma
through genomics
and epigenomics

We contributed in establishing the ICHANGE consortium that groups samples and expertise across the world, and helped revolutionize our understanding of HGA in children. Our major aim is to develop and validate diagnostic tests of H3.3 mutations in HGA. More details here

TNBC: resistance to chemotherapy

Although we understand the differences between tumour cells and normal cells, so much so that we can target these differences, metastatic tumours, including those resistant to therapy, are less known because it is much harder to obtain samples from those sites. Our aim is to obtain biopsies before treatment with the most powerful drugs in breast cancer, and after the treatment, to then identify the molecular factors of resistance to treatment. More details here


  Cynthia Horth

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Cynthia brought her family back to Montreal to join Majewski’s team in 2017, after a 6-years working experience at the University of Chicago. She is Quebec native -from Gaspesie- and trained to become a Lab Technician in 1995. She then continued her education in microbiology and did a MSc in Philippe Gros lab at McGill in 2002. She brought all her diverse lab experience to the Majewski lab, which included only bioinformaticians at the time. Partly present in the lab to prepare samples, CRISPR cells or to train the new students, she can also be found in the offices coordinating sequencing submissions and shipments for our collaborators, writing protocols, analyzing sequences and learning more bioinformatics. Cynthia is a fast-paced manager that is passionate just about everything from getting things done in lab, going jogging outside, organizing lab events, or playing ice hockey and water-polo.

  Eric Bareke

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A Research Associate with a background in Computer Sciences, Eric completed his PhD in Bioinformatics at University of Namur (Belgium) in 2011, where he worked on balancing massive aspect of biological data with computational system evolution theories. In 2013, he joined Majewski Lab, to provide bioinformatics support for the pan-canadian projects FORGE and Care For Rare. With a strong experience in genomic data analyses, his current research interests include cancer (epi)genetics, specifically non-CpG methylation contribution to cancers. He has been for a long time passionate about ancient civilizations and he spend his lazy time on trying to solve major mathematical puzzles and (unsolved) enigmas (such Hilbert's, Landau's, Taniyama's, Smale's and Simon's problems...)

  Haifen Chen

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Haifen obtained her Bachelor's and Master's degrees in Computer Science, both from Harbin Institute of Technology, China. Then she went to Singapore to pursue her Ph.D in Computational Biology, Nanyang Technological University. With her Ph.D degree, she moved to Montreal Canada as a postdoctoral fellow in the Majewski lab since October, 2016. Haifen's research focuses on the analysis of next generation sequencing data (e.g. ChIP/RNA-seq, WGBS) to uncover the crosstalk of epigenetic modifications and its impact on transcription and cell fate regulation such as tumorigenesis. Outside of work, Haifen enjoys hiking, swimming, literature, going out with friends, and so on.

  Frank Hu

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Coming from a background in physical sciences, Frank is interested in the application and development of integrative approaches for analyzing the increasingly high dimensional data necessary to obtain mechanistic insights into epigenomic dynamics of cancer as well as normal development.

  Lucy Zhang

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Lucy is a PhD student in the Majewski lab and an RNA enthusiast. She graduated from McMaster University with a master's degree in Biology. Coming from a plant genomics and transcriptomics background, she's now interested in the expression of non-coding RNA species in the vast intergenic regions that are differentially regulated by aberrant methylation in cancer. Lucy plans to explore this using computational methods and machine learning. Her hobbies are hiking, Japanese mahjong, piano and playing video games.

  Reinnier Padilla

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Reinnier comes from a diverse research background. He completed his MSc in muscle physiology and BSc in biology with a research thesis project on bacterial genetics. Despite enjoying these past research domains, which combined both wet and dry lab work, he realized that his passion lies in data analysis. For his PhD project, he will be using bioinformatic approaches to elucidate the connection between epigenetic defects, promiscuous transcription and immune response. In his free time, he enjoys long-distance running (5-10km), weightlifting (the big 3 – squat, deadlift and bench) and other sports, like tennis and basketball. Fun fact: his name is a palindrome!

  Phillip Rosenbaum

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Phillip completed a BSc in Life Sciences and a minor in Computer Science at McGill. His fascination with functional genomics began during an undergraduate research stint, where he worked on characterizing environmental stress responses in rice and Arabidopsis. After countless hours of pipetting, he realized that his true interest lies in data analysis. He is currently working on teasing out the recruitment mechanisms of a DNA methyltransferase (DNMT3A) by integrating different types of genome-wide data. When he's not crunching numbers, Phil spends his free time cooking and playing sports with friends.

  Karolina Skowronek

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Karolina grew up in Poland. She completed her bachelor’s degree in Genetics with Industrial/Professional Experience at the University of Manchester, UK, where she further developed her passion for genetics research. During her undergraduate studies, she also spent an inspiring year at the University of Nevada, Reno, investigating the role of Interstitial Cells of Cajal in conveying neuronal signals to smooth muscle cells in the GI tract. Fascinated by the field of cancer epigenetics, Karolina joined the Majewski lab at the McGill University and Genome Quebec Innovation Centre in 2020 as a master’s student. She is now working on the effects of NSD1 and NSD2 mutations in Head and Neck Squamous Cell Carcinomas (HNSCC). Outside the lab, Karolina's biggest passion is latin dancing - salsa, bachata, merengue... She also loves to travel and enjoys playing sports. 

  Gerry Shipman

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Gerry was born in Ottawa but has spent most of his life living in Montreal. After studying Science with Nanotechnology in Ireland for a study-abroad year, he completed his BSc. Hons. in molecular biology and biochemistry at SFU in Vancouver where he became interested in how disease impairs normal developmental processes. Through his research he became interested in epigenetic regulation and how it relates to cancer and development. Some of his hobbies include hiking, hockey, cooking and guitar.


  Ashot Harutyunyan

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Ashot is a member of the Jabado lab (link) at RI-MUHC but he is directly involved in multiple projects with the Majewski lab. He participates in all of the scientific or social activities from both groups. Ashot studied medicine in Armenia and afterwards completed his doctoral studies in Vienna, Austria, at the Research Center for Molecular Medicine (CeMM), working on genetics of myeloproliferative neoplasms. After obtaining his PhD degree, he moved to the Jabado lab as a postdoctoral fellow until November 2018, after which he transitioned to the position of research associate. Ashot’s work in the lab is focused on the characterization of epigenomic changes in pediatric glioblastoma. Utilizing modern genome editing techniques and high throughput sequencing technologies, he is trying to understand how the driver mutations in glioblastoma change epigenomic landscape in tumor cells and lead to the development of cancer. Outside of work, Ashot likes to read science fiction, and he is a fan of watching and playing various sports (soccer, basketball, tennis, etc.). He is also a competitive bridge player.

  Nargess Farhangdoost

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Nargess joined the Majewski lab at McGill University and Genome Quebec Innovation Center in 2018 as a master’s student in Human/Medical Genetics. After obtaining her B.Sc. degree in Biology and gaining some research experience in her last year of undergraduate studies at Concordia university, she decided to pursue her graduate studies in the field of cancer epigenetics at McGill University, with a focus on Head and Neck Squamous Cell Carcinomas (HNSCC). She is currently studying the epigenome dysregulation of a subgroup of HPV(-) HNSCCs that are enriched in NSD1 and H3K36M mutations. Outside of work, Nargess enjoys High Performance Spinning (HPS), dancing, and doing karaoke with friends. Volunteering for different causes is also something she usually dedicates her time to.

  Octavia Maria Dancu

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Octavia is a Masters Student in Human Genetics in the Majewski lab. Prior to her degree in Human Genetics, Octavia obtained a BSc in Biochemistry (minor in Biotechnology) from McGill University, during which time she performed research as an undergraduate research assistant in the Majewski lab for 2 years. Her current primary research project is a bioinformatics-based investigation focused on identifying and characterizing the drivers of global DNA hypomethylation in Head & Neck Cancers and the transcriptional aberrations that result from that epigenetically-disturbed landscape, and the downstream effects of these cryptic transcripts. She is passionate about problem-solving and aims to convert the findings of her research on transcriptional aberrations in globally DNA hypomethylated tumors into clinically-actionable, targeted therapeutic strategies. In addition to her research, Octavia is involved in promoting innovation within the epigenetic and scientific communities, through the coordination of multiple event series dedicated to encouraging discussion across researchers of different disciplines and backgrounds, as well as stimulating dialogue on the intersection of science, ethics and policymaking.


740 Dr. Penfield Avenue
Montreal, Quebec H3A 1A4

jacek.majewski [at] mcgill.ca

+1 514 398 3311 ext. 00891