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Adam Shlien

Title: Senior Scientist, Genetics & Genome Biology
Designations: PhD, FCCMG
Phone: 416-813-6205
Alternate Contact Name: Catherine Tan
Alternate Phone: 416-813-6385
Alternate Email:
U of T Positions: Associate Professor, Laboratory Medicine and Pathobiology

Hospital Positions

Director, Genome Diagnostics


Dr. Adam Shlien is a Director in Genome Diagnostics and Senior Scientist in the Genetics & Genome Biology program. He received his PhD from the University of Toronto for the study of copy number variation and cancer susceptibility. He continued his training as a Postdoctoral Fellow at the Wellcome Trust Sanger Institute, with Sir Mike Stratton and Dr. Peter Campbell, where he developed methods to understand the transcriptional consequences of point mutation in cancer.

Dr. Shlien’s research at SickKids has an emphasis on the analysis of paediatric cancer genomes using cutting-edge sequencing tools, with the aim of disclosing genomic mutations that drive the cancer development and understand how they alter the somatic transcriptome. Dr. Shlien has a strong interest in sarcoma. His lab is introducing next-generation genomics technologies including genome sequencing into oncological practice.


The focus of Dr. Shlien's research has been broken down into four main goals. First, to understand the key processes of cancer initiation and progression, and to look for commonalities across tumour types and age of diagnosis. Then, use the lessons learned through observation and primary human malignancies to uncover the basic components of cellular repair used by non-neoplastic cells. Second, to use advanced genomics to broaden therapeutic choices and improve survival of rare childhood cancers, especially sarcomas, for which there has been little progress. Third, to rapidly implement novel discoveries and technologies, developed by us and others, to improve clinical care of children with relapsed cancer. In particular, recognizing the coming surge of genome sequence data, to design algorithms and processes to thoughtfully interpret the cancer genome, in real time. Fourth, to provide high quality training to the next generation of clinicians and researchers interested in pursuing similar goals, which is key to sustaining a robust community of clinicians and scholars studying childhood cancer.

Education and experience

  • 2010–2013: Postdoctoral fellowship, Cancer Genomics, The Wellcome Trust Sanger Institute, Cambridge, UK
  • 2006–2010: PhD, Cellular and Molecular Biology, Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada
  • 1998–2001: B.Sc., Major in Biology, Minor in Computer Science, Concordia University, Montreal, QC, Canada


  • 2019: St. Baldrick’s Robert J. Arceci Innovation Award, St. Baldrick’s Foundation, Monrovia, California, United States
  • 2018: Scholars Award, The V Foundation for Cancer Research, Morrisville, North Carolina, United States.
  • 2018: Canada Research Chair in Childhood Cancer Genomics, Canada Research Chairs, Toronto, Ontario, Canada.
  • 2018: Early Researcher Award, Ministry of Research, Innovation and Science, Government of Ontario, Toronto, Ontario, Canada.
  • 2018: SickKids Innovators Award - RNA Sequencing Project, Genome Diagnostics, SickKids, Toronto, Ontario, Canada.
  • 2016: GGB Best Paper of the Year Award, Genome Diagnostics, SickKids, Toronto, Ontario, Canada.
  • 2015: GGB Best Paper of the Year Award, Genome Diagnostics, SickKids, Toronto, Ontario, Canada.


  1. Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M, Davidson S, Zarrei M, Id Said B, Schreiner LC, Marchand R, Sitter J, Gokgoz N, Brunga L, Graham GT, Fullam A, Pillay N, Toretsky JA, Yoshida A, Shibata T, Metzler M, Somers GR, Scherer SW, Flanagan AM, Campbell PJ, Schiffman JD, Shago M, Alexandrov LB, Wunder JS, Andrulis IL, Malkin D**, Behjati S**, Shlien A**. ** co-corresponding. (2018). Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors. Science. 361(6405): eaam8419
  2. Campbell BB , Light N , Fabrizio D , Zatzman M , Fuligni F , de Borja R , Davidson S , Edwards M , Elvin JA , Hodel KP , Zahurancik WJ , Suo Z , Lipman T , Wimmer K , Kratz CP , Bowers DC , Laetsch TW , Dunn GP , Johanns TM, Grimmer MR , Smirnov IV , Larouche V , Samuel D , Bronsema A , Osborn M , Stearns D , Raman P , Cole KA , Storm PB , Yalon M , Opocher E , Mason G , Thomas GA , Sabel M , George B , Ziegler DS , Lindhorst S , Issai VM , Constantini S , Toledano H , Elhasid R , Farah R, Dvir R , Dirks P , Huang A , Galati MA , Chung J , Ramaswamy V , Irwin MS , Aronson M , Durno C , Taylor MD , Rechavi G , Maris JM , Bouffet E , Hawkins C , Costello JF , Meyn MS , Pursell ZF , Malkin D , Tabori U** , Shlien A** ** co-corresponding. (2017). Comprehensive Analysis of Hypermutation in Human Cancer. Cell. 171(5): 1042-1056.e10.
  3. Shlien A** , Raine K , Fuligni F , Arnold R , Nik-Zainal S , Dronov S , Mamanova L , Rosic A , Ju YS , Cooke SL , Ramakrishna M , Papaemmanuil E , Davies HR , Tarpey PS , Van Loo P , Wedge DC , Jones DR , Martin S , Marshall J , Anderson E , Hardy C , ICGC Breast Cancer Working Group, Oslo Breast Cancer Research Consortium , Barbashina V , Aparicio SA , Sauer T , Garred Ø , Vincent-Salomon A , Mariani O , Boyault S , Fatima A , Langerød A , Borg Å , Thomas G , Richardson AL , Børresen-Dale AL , Polyak K , Stratton MR , Campbell PJ** ** co-corresponding. (2016). Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer. Cell reports. 16(7): 2032-46.
  4. Eric Bouffet, Valérie Larouche, Brittany B. Campbell, Daniele Merico, Richard de Borja, Melyssa Aronson, Carol Durno, Joerg Krueger, Vanja Cabric, Vijay Ramaswamy, Nataliya Zhukova, Gary Mason, Roula Farah, Samina Afzal, Michal Yalon, Gideon Rechavi, Vanan Magimairajan, Michael F. Walsh, Shlomi Constantini, Rina Dvir, Ronit Elhasid, Alyssa Reddy, Michael Osborn, Michael Sullivan, Jordan Hansford, Andrew Dodgshun, Nancy Klauber-Demore, Lindsay Peterson, Sunil Patel, Scott Lindhorst, Jeffrey Atkinson, Zane Cohen, Rachel Laframboise, Peter Dirks, Michael Taylor, David Malkin, Steffen Albrecht, Roy W.R. Dudley, Nada Jabado, Cynthia E. Hawkins, Adam Shlien and Uri Tabori. (2016). Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency. Journal of Clinical Oncology. 34(19): 2206-11.
  5. Shlien A** , Campbell BB , de Borja R , Alexandrov LB , Merico D , Wedge D , Van Loo P , Tarpey PS , Coupland P , Behjati S , Pollett A , Lipman T , Heidari A , Deshmukh S , Avitzur N , Meier B , Gerstung M , Hong Y , Merino DM , Ramakrishna M, Remke M , Arnold R , Panigrahi GB , Thakkar NP , Hodel KP , Henninger EE , Göksenin AY , Bakry D , Charames GS , Druker H , Lerner-Ellis J , Mistry M , Dvir R , Grant R , Elhasid R , Farah R , Taylor GP , Nathan PC , Alexander S , Ben-Shachar S , Ling SC, Gallinger S , Constantini S , Dirks P , Huang A , Scherer SW , Grundy RG , Durno C , Aronson M , Gartner A , Meyn, MS , Taylor MD , Pursell ZF , Pearson CE , Malkin D , Futreal PA , Stratton MR , Bouffet E , Hawkins C , Campbell PJ , Tabori U** , for the Biallelic Mismatch Repair Deficiency Consortium ** co-corresponding. (2015). Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nature Genetics. 47(3)(10.1038/ng): 257-62.

See a full list of Dr. Adam Shlien's publications on PubMed or Google Scholar.

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