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Mutations in the gene MECP2 cause Rett Syndrome. But there are people who have MECP2 mutations that don’t have Rett Syndrome because mutations in other genes are protecting them. Monica Justice is looking for these modifier genes to find alternative therapeutic targets for Rett Syndrome.

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    Situation

    Rett Syndrome is a devastating condition for which there is no treatment, yet the condition has already been completely reversed in the lab. We know that mutations in the gene MECP2 cause Rett Syndrome. This gene makes a protein which is needed for normal brain function. When the protein is replaced at adequate levels, the symptoms go away. But putting the protein back is tricky; we don't know what the correct level is and methods of safe delivery have not yet been identified.

    Solution

    There are some people who have MECP2 mutations which have not caused them to have Rett Syndrome. Some of these people are protected from MECP2 mutations by mutations in other genes. Monica Justice is searching for these modifier genes, going at the disorder inside out, to find alternative therapeutic targets for Rett Syndrome.

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    100%
    Categories

  • Health/Wellbeing Health/​Wellbeing
  • Medical Research Medical Research
  • Beneficiaries