Reverse Rett

Justice for Our Girls

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.

history Campaign has now closed

It ran from 10:00 AM, 5 December 2013 to 5:00 PM, 18 December 2013

open_in_new http://www.reverserett.org.uk

Registered Charity in England and Wales (1136809)

Check mark Match funded

Campaign target

£60,000

Amount raised

£120,750

Donations

174

    Category

  • Health/WellbeingHealth/Wellbeing
  • Medical ResearchMedical Research

    Helping

Location

  • ‚ÄúWe are only 15% of the way through the screen, and so far we have identified 5 modifiers"

    — Monica Justice PH.D.

  • The project is at an exciting point. We are close to identifying our first suppressor gene and have more potential genes we are pursuing as well.

    — Monica Justice PH.D.

  • Another avenue to treating Rett Syndrome is to find ways to bypass the need for mecp2

    — Rachael Bloom

  • The project is at an exciting point. We are close to identifying our first suppressor gene and have more potential genes we are pursuing as well.

    — Monica Justice PH.D.

  • Another avenue to treating Rett Syndrome is to find ways to bypass the need for mecp2

    — Rachael Bloom

  • “We are only 15% of the way through the screen, and so far we have identified 5 modifiers"

    — Monica Justice PH.D.

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.