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Funded Grants

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Detection of tandem repeat expansion in neurological disorders

Project Overview

In the past decade, rapid development of software has allowed detection of a wide variety of genetic risk factors in brain disorders. It has improved clinical diagnosis and gene discovery for numerous human brain disorders. However, the casual genetic risk factors identified so far generally confer less risk than expected from estimation for many disorders. For example, genetic risk factors have so far been identified in only fewer than 20% of the cases in autism spectrum disorder (ASD) despite its estimated up to 90% cases attributed to genetics. Such missing cases can be due to the technical hurdle of the the current sequencing technology in repetitive regions of the genome. In particular, gene-specific short tandem repeats (STRs), have been linked to over 40 known genetic disorders. Most of these are caused by increased length of the STRs (repeat expansions). Notably, each of these would have escaped detection by currently available tools. We have developed a comprehensive repeat expansion calling strategy that allow an unbiased genome-wide detection and genotyping of repeat expansions from WGS data. In this project, we will apply such optimized repeat expansion calling strategy to enable detection of known and novel functional and potentially pathogenic repeat expansions in ASD.

Principal Investigator

Ryan Yuen , The Hospital for Sick Children

Partners and Donors

The Azrieli Foundation

Project Ongoing

Detection of tandem repeat expansion in neurological disorders

  • Program Type

    Capacity building grants

  • Area of research

    Neurodevelopment

  • Disease Area

    Autism

  • Competition

    Future Leaders in Canadian Brain Research

  • Province

    Ontario

  • Start Date

    2020

  • Total Grant Amount

    $100,000

  • Health Canada Contribution

    $50,000

Contact Us

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

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

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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.

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