Close this search box.

Biomarkers for Pediatric Glioblastoma through Genomics and Epigenomics


Generating solutions




2012 Large-Scale Applied Research Project Competition – Genomics and Personalized Health

Genome Centre(s)



Project Leader(s)

Fiscal Year Project Launched


Project Description

Goal: To develop new tools that will help healthcare providers identify mutations in brain tumors, allowing children to receive the best treatment strategy.

A type of incurable brain cancer called high-grade astrocytomas (HGA) is taking the lives of children and young adults. Genome Canada and CIHR-funded researchers have identified mutations in a particular gene in a significant fraction of children and young adults with this brain tumor. These mutations partly explain why this cancer remains unresponsive to treatments.

Now, the team led by Drs. Nada Jabado, Jacek Majewski and Tomi Pastinen will develop new tools that will help healthcare providers identify these mutations in brain tumors, allowing children to receive the best treatment strategy. Using next-generation genomic technologies, they are looking for potential targets for drug treatment.

Project outcomes*

  • Gained better understanding of how high-grade astrocytoma (HGA) mutation influences tumour growth. New 2017 Genome Canada-funded project (Tackling childhood brain cancer at the root to improve survival and quality of life) continues to look for new alterations and specific vulnerabilities as targets for therapy.
  • Inspired adoption of a new international standard biomarker for HGA diagnosis by the World Health Organization (WHO), based on novel biomarkers for two HGA mutations detectable in either tumours or plasma.
  • Developed novel, less-invasive biopsy technique for diagnosis.
  • Discovered similar mutations in other types of cancers, extending beyond children. Twenty per cent of adult sarcomas (musculo-skeletal cancer) and 13 to 15 per cent of head and neck cancer show same residue on histone protein.
  • New tools for therapy being tested in two U.S.-based clinical trials (Pediatric Brain Tumour Consortium) with patients throughout North America.
  • Patients with these mutations streamed into different clinical trials – based on tests showing specific mutation – to avoid unnecessary treatment.
  • Research results changed medical understanding and now included in curricula around the world.
  • Collaborated with Millipore Sigma to develop antibodies to use to track the biomarker – now used globally to diagnose HGA. (Patented in U.S. and European Union.)
  • Partnered with Millipore Sigma to generate antibodies for other mutations.
  • Collaborating with research teams around the world in large-scale scientific consortium attracting significant international funding. Maintaining 100 material transfer agreements with organizations in Canada, United States, United Kingdom, France, Germany, Lebanon, Taiwan, Australia, Mexico, and Brazil.
  • Attracted major funding from pharmaceutical companies, Genome Canada, Canadian Institutes for Health Research (CIHR) and National Institutes of Health.
  • Training next generation of scientists – students and postdoctoral fellows form at least half of 23-person lab.
  • Working with McGill Innovation Centre to be first-in-world to design advanced research tools for understanding how epigenome is affected by histone mutations.
  • Published 17 journal articles on direct results of the 2012 Genome Canada grant in respected publications such as Science, Bioinformatics, Nature Genetics, National Review of Cancer, and Current Opinions in Oncology. Since 2013, team members published 58 additional articles on related research.
  • GE3LS component: Case studies examining segregation of patients by mutation indicated savings in health costs and improved patient quality of life. Partnered with families to understand implications of return of genetic information (finding additional genetic information when testing that may be relevant to other family members). Ongoing consultations with families and health professionals to examine social barriers to testing when results will lead to segregation of patients and change access to treatment. Findings published in Nature Genetics, Genetics in Medicine, BMC Palliative Care, and Pharmacogenetics.

*Revised July 2018