Skip to content
Project Directory
  • Français
Donate Now
  • Français
  • About
    • What We Do
    • EDI Action Plan
    • Leadership
    • Team
    • Annual Report
    • Publications
    • Careers
  • Brain Conditions
    • One Brain
    • ALS
    • Autism (ASD)
    • Brain Cancer
    • Brain Injury
    • Dementia
    • Epilepsy
    • Mental Illness
    • Multiple Sclerosis
    • Parkinson’s
    • Stroke
    • More
  • Research
    • Programs
    • Funding Opportunities
    • Program Partners
    • Announcements
  • Impact
    • Research Impact Stories
    • Equity, Diversity and Inclusion
    • Brain Health in Indigenous Communities
    • Women’s Brain Health
    • Mind Over Matter
  • How You Can Help
    • Ways to Give
    • Start a Fundraiser
    • Workplace Giving
    • The Great Minds

Funded Grants

Back to results

Pathogenic Mechanism of C9orf72 haploinsufficiency in ALS/FTLD: a road to therapeutic discovery

Project Overview

In this Hudson project, the team led by Dr. Robertson will pursue a comprehensive understanding of the normal functions of C9ORF72 and provide a better determination of whether loss of these functions via mutation may cause or contribute to ALS. One of the first discoveries about C9ORF72 was that it was a type of protein containing something called a DENN domain, which means it has function in normal movement of substances inside cells. Team member Dr. Peter McPherson, at McGill University, who discovered this unique function for DENN proteins, will further explore preliminary data that connects C9ORF72 to critical compartments in cells called lysosomes and their ability to recycle cellular components through a disposal process called autophagy. In recent years, numerous ALS genes have been connected to autophagy pathways. Furthermore, the team will examine other preliminary work showing that normal C9ORF72 may be necessary for proper movement of substances into and out of the nucleus, indicating that mutations in this gene causing ALS might have a dual effect on cells through loss and gain of function mechanisms. Finally, the team will study a completely unexplored potential function of C9ORF72 in a process called compensatory collateral sprouting, which is a function of neurons where they can regrow new connections at their ends when they get disconnected from muscles. Other work, including that of Canadian researchers, has indicated that this sprouting is impaired in ALS, but connection to C9ORF72 has not yet been made.

Principal Investigator

Janice Robertson , University of Toronto

Partners and Donors

ALS Society of Canada

Project Complete

Pathogenic Mechanism of C9orf72 haploinsufficiency in ALS/FTLD: a road to therapeutic discovery

  • Grant Type

    Team grants

  • Area of research

    Neurodegeneration

  • Disease Area

    ALS

  • Competition

    ALS Arthur J. Hudson Translational Team Grant

  • Province

    Ontario

  • Start Date

    2017

  • Total Grant Amount

    $1,647,800

  • Health Canada Contribution

    $823,900

Contact Us

1200 McGill College Avenue
Suite 1600, Montreal, Quebec
H3B 4G7

+1 (514) 989-2989 info@braincanada.ca

Please note all online donations will receive an electronic tax receipt, issued by Brain Canada Foundation.

Our Donors

Playing with Marbles Podcast

Join us and take a journey to the real last great frontier – the brain.

Listen

Subscribe to Brain News

Receive our monthly electronic newsletter with updates on funded projects, upcoming events and breakthroughs in brain research.

Sign Up

Territorial acknowledgement

The offices of Brain Canada Foundation are located on the traditional, ancestral territory of the Kanien'kehá:ka Peoples, a place which has long served as a site of meeting and exchange amongst nations. We honour and pay respect to elders past, present and emerging, and dedicate ourselves to moving forward in the spirit of partnership, collaboration, and reconciliation. In our work, we focus our efforts on the Truth and Reconciliation Commission’s Calls to Action, particularly those that pertain to improving health for Indigenous Peoples and that focus on advancing our own learning on Indigenous issues.

© 2025 Brain Canada Foundation

Registration number: 89105 2094 RR0001

  • Terms and Conditions
  • Privacy Policy

Design by Field Trip & Co

  • About
    • What We Do
    • EDI Action Plan
    • Leadership
    • Team
    • Annual Report
    • Publications
    • Careers
  • Brain Conditions
    • One Brain
    • ALS
    • Autism (ASD)
    • Brain Cancer
    • Brain Injury
    • Dementia
    • Epilepsy
    • Mental Illness
    • Multiple Sclerosis
    • Parkinson’s
    • Stroke
    • More
  • Research
    • Programs
    • Funding Opportunities
    • Program Partners
    • Announcements
  • Impact
    • Research Impact Stories
    • Equity, Diversity and Inclusion
    • Brain Health in Indigenous Communities
    • Women’s Brain Health
    • Mind Over Matter
  • How You Can Help
    • Ways to Give
    • Start a Fundraiser
    • Workplace Giving
    • The Great Minds
Project Directory
Donate Now