I love working with children and their families because children bring out the best in each of us.

Hospital information

Academic appointments

  • Professor of Pediatrics and Human Genetics, McGill University
  • Associate Member, Departments of Pathology, Experimental Medicine, Oncology, Center for Host Resistance and Goodman Cancer Center, McGill University

Other appointments

  • Principal Investigator, Research Institute of the McGill University Health Center
  • Member, Child Health and Human Development (CHHD) Program Management Committee, Research Institute of the McGill University Health Center

Awards and distinctions

  • Fellow, Royal Society of Canada, Academy Of Science, Life Sciences Division
  • Atena Prize. Awarded by the Fondazione Atena Onlus, for excellence in research in Neurosciences, Rome, Italy
  • Selected as one of the most prominent eight women in health care in Quebec, by the magazine Premières en Affaires – l’Actualité des affaires au féminin
  • Canadian Gene Cure Foundation’s (CGCF), Champions of Genetics Awards. Named Next generation Champion of Genetics
  • Canadian Cancer Society William E. Rawls Award. Awarded by the National Council of the Canadian Cancer Society to an outstanding young investigator in cancer control research
  • Maude Abbott Prize, Faculty of Medicine, McGill University. Established in order to recognize outstanding women faculty members who excel in education, research and administration.
  • Prix Jean Coutu “Best Care for Children “Award. The Montreal Children’s Hospital – Aldo Research Award of Excellence (Pediatrics); The Montreal Children’s Hospital Foundation

Community Involvement

  • Leucan, Medical Advisory Committee
  • Kat D Strong, Fight Against DIPG Fundraiser

Education

University

PhD in Immunology, INSERM unit 429, Paris, France

Medical Degree

Faculté de Médecine Pitié-Salpêtrière, Université de Paris VI, Pierre et Marie Curie, Paris, France

Residency

Hematology, immunology and pediatrics, Hôpital Necker Enfants-Malades, Paris, France

Fellowship(s)

Postdoctoral fellowship in Biochemistry, McGill University

Research

Research interests

My research program is centered around pediatric brain tumors and aims at elucidating genetic signatures of pediatric astrocytomas and examining how they compare to adults. Our group established that pediatric Glioblastoma Multiforme (GBM), which is one of the deadliest cancers in humans, are molecularly and genetically distinct from adult GBM. We were also the first to identify a new molecular mechanism driving pediatric GBM, namely recurrent somatic driver mutations in histone molecules that lead to amino-acid substitutions at key residues (K27M, K36M, G34V/R). Histones are involved in regulating the development and growth of many body tissues, particularly in the brain and these mutations partly explain why this cancer may remain unresponsive to treatment. Our ground-breaking work has created a paradigm shift in cancer with the identification of histone mutations in human disease and we hope to translate these findings into optimal detection and therapeutic possibilities at the bedside. We are also exploring how best to engage children, parents and healthcare professionals in therapeutic decision-making based on the genetic make-up of the tumor.

Research foci

Brain Tumor, Pediatric High Grade Gliomas, Histones, Epigenome, Cancer Genomics, Giant Cell Tumors of the Bone, Animal Models

Selected publications

1. Papillon-Cavanagh S, Lu C, Gayden T, Mikael LG, Bechet D, Karamboulas C, Ailles L, Karamchandani J, Marchione DM, Garcia BA, Weinreb I, Goldstein D, Lewis PW, Dancu OM, Dhaliwal S, Stecho W, Howlett CJ, Mymryk JS, Barrett JW, Nichols AC, Allis CD, Majewski J*, Jabado N*. (2017) Impaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas. Nat Genet 49(2):18-185.

2. Lu C, Jain SU, Hoelper D, Bechet D, Molden RC, Ran L, Murphy D, Venneti S, Hameed M, Pawel BR, Wunder JS, Dickson BC, Lundgren SM, Jani KS, De Jay N, Papillon-Cavanagh S, Andrulis IL, Sawyer SL, Grynspan D, Turcotte RE, Nadaf J, Fahiminiyah S, Muir TW, Majewski J, Thompson CB, Chi P, Garcia BA, Allis CD*, Jabado N*, Lewis PW* (2016). Histone H3K36 mutations impair mesenchymal differentiation and promote sarcomagenesis. Science 352(6276):844-849.

3. Nikbakht H, Panditharatna E, Mikael LG, Li R, Gayden T, Osmond M, Ho C-Y, Kambhampati M, Hwang EI, Faury D, Siu A, Papillon-Cavanagh S, Bechet D, Ligon K, Ellezam B, Ingram W, Moore A, Stinson C, Warren KE, Karamchandani J, Packer RJ, Jabado N*, Majewski J*, Nazarian J* (2016). Spatial and Temporal Homogeneity of Driver Mutations in Diffuse Intrinsic Pontine Glioma. Nat Commun 7:11185 doi: 10.1038/ncomms11185

4. Fontebasso A M, Papillon-Cavanagh S, Schwartzentruber J, Nikbakht H, Gerges N, Fiset P O, Bechet D, Faury D, De Jay N, Ramkissoon L A, Corcoran A, Jones D T, Sturm D, Johann P, Tomita T, Goldman S, Nagib M, Bendel A, Goumnerova L, Bowers D C, Leonard J R, Rubin J B, Alden T, Browd S, Geyer J R, Leary S, Jallo G, Cohen K, Gupta N, Prados M D, Carret A S, Ellezam B, Crevier L, Klekner A, Bognar L, Hauser P, Garami M, Myseros J, Dong Z, Siegel P M, Malkin H, Ligon A H, Albrecht S, Pfister S M, Ligon K L, Majewski J, Jabado N* and Kieran M W (2014). Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma. Nat Genet 46(5): 462-466.

5. Schwartzentruber J, Korshunov A, Liu XY, Jones D T, Pfaff E, Jacob K, Sturm D, Fontebasso A M, Quang D A, Tonjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, Lindroth A, Jager N, Rausch T, Ryzhova M, Korbel J O, Hielscher T, Hauser P, Garami M, Klekner A, Bognar L, Ebinger M, Schuhmann M U, Scheurlen W, Pekrun A, Fruhwald M C, Roggendorf W, Kramm C, Durken M, Atkinson J, Lepage P, Montpetit A, Zakrzewska M, Zakrzewski K, Liberski P P, Dong Z, Siegel P, Kulozik A E, Zapatka M, Guha A, Malkin D, Felsberg J, Reifenberger G, von Deimling A, Ichimura K, Collins V P, Witt H, Milde T, Witt O, Zhang C, Castelo-Branco P, Lichter P, Faury D, Tabori U, Plass C, Majewski J, Pfister S M and Jabado N (2012). Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature 482(7384): 226-231.