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Funded Grants

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Investigation of DNA damage response as a genomic modifier in Rett syndrome

Project Overview

Rett syndrome is a severe neurological disorder that is caused by genetic mutations in the MECP2 gene. The disorder almost exclusively affects females, presents in childhood and limited effective treatments exist. Since the disease can range in severity and age of onset, there is an active search in the research community for genes that may help explain these differences. These modifier studies are important, since they can uncover new drug targets, leading to new treatments. Recent evidence from animal studies of Rett syndrome have suggested that the pathways that repair our genetic material (i.e., DNA) could be important for modifying the clinical presentation of the disorder. The current investigation aims to study DNA repair in human Rett syndrome brain cells to help understand how these processes might be involved in the disease. This study will take advantage of recent advances in cutting-edge technologies in genomics, gene editing and stem cell biology to investigate DNA repair in disease-relevant cells. A key DNA repair gene, FAN1, that has been linked to both Rett syndrome and other neurological disorders form the focus of these investigations. These investigations therefore have the potential to enhance our understanding of the brain in neurological disease. Further, since DNA repair-related processes are emerging as important pathways for numerous other neurological disorders, the findings generated by the current investigation have the potential to have broad-reaching clinical implications.

Principal Investigator

Galen Wright , University of Manitoba

Project Ongoing

Investigation of DNA damage response as a genomic modifier in Rett syndrome

  • Program Type

    Capacity building grants

  • Area of research

    Neurodevelopment

  • Disease Area

    Other

  • Competition

    Future Leaders in Canadian Brain Research

  • Province

    Manitoba

  • Start Date

    2021

  • Total Grant Amount

    $100,000

  • Health Canada Contribution

    $50,000

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

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