Project information

Leaping forward for our girls

In 2013, researchers showed that replacing defective MECP2 genes in mice restored health, using a technique that could also be used in people.

The MECP2 Gene Therapy Consortium is a collaboration between four labs who, together, can make the leap from recovered mouse to recovered child.

January 2015 - December 2015

Charity information: Reverse Rett

Reverse Rett logo
  • Need

    Need

    Rett Syndrome strikes at random in early childhood, affecting little girls almost exclusively. Each of these girls will lose the ability to walk, talk and use their hands. Most will have difficulty breathing and eating. All are at increased risk of sudden and unexplained death. Many girls live into adulthood, requiring total, 24-hour-a-day care. There is currently no effective treatment.

    Solution

    The concept behind gene therapy is simple: deliver a healthy gene to compensate for one that is mutated. The genetic target in Rett is known: MECP2. Another advantage is that Rett is not neurodegenerative – neurons don’t die. And we know that restoring the proper level of MeCP2, even later in life, at least in a mouse, results in dramatic improvements. Finally, we already know that a single one-time administration of a gene therapeutic can
    restore health in the mouse model of this disease.

  • Aims

    Aim 1

    We will financially support the MECP2 Gene Therapy Consortium for six months.

    Activities

    » Provide funding to the laboratories working as part of the consortium.

    We will demonstrate that we have provided this financial support via our website, newsletters and annual review. We will provide progress updates to supporters on a regular basis.


  • Impact

    Impact

    Gene therapy, because of its ability to address the cause of Rett Syndrome at its very root, MECP2, has the ability to dramatically change the lives of children and adults suffering from this debilitating disease.

    The long term implications of that would be too huge and numerous to mention here, but they would be self evident. In the shorter term, success of this project could be measured as the Consortium moves this gene therapy lab work into human clinical trials.

    Risk

    There are a number of labs involved with the project who have already committed to this work over the next three years.

    Reporting

    Supporters of this work will receive regular updates on the progress of this and other Reverse Rett supported work, via our website, newsletter and social media.

  • Budget

    Budget - Project Cost: £140,000

    Loading graph....
      Amount Heading Description
      £140,000 MECP2 Gene Therapy Consortium Full funding for six months
  • Background

    Location

    Consortium members include:

    Stuart Cobb (University of Glasgow) and Gail Mandel (Oregon Health & Sciences University) who bring deep knowledge of the Rett mouse models and Steven Gray (University of North Carolina at Chapel Hill) and Brian Kaspar (Nationwide Children’s Hospital), who bring substantive vector design/development and gene therapy clinical trial experience.

    Beneficiaries

    People with Rett Syndrome and related MECP2 disorders and their families, friends and communities. There would also a huge economic benefit to the state, were this sort of treatment for Rett Syndrome to become viable, ultimately ensuring that these girls and women could take their rightful place in society.

  • Why Us?

    Why Us?

    Reverse Rett is the only UK charity working exclusively to speed treatments and a cure for Rett Syndrome and related MECP2 disorders.

    Since our inception in 2010, we've delivered over £2 million to research.

    Read more about the Charity running this project.

    People

    Rachael Bloom

    Rachael is Executive Director of Reverse Rett. She has successfully executed 4 Big Give campaigns, each year growing the target!

    Andy Stevenson

    Andy is our Fundraising Manager. He will work closely with donors to ensure that they are able to complete their donations on the day.

    Thomas Johnston

    Tom is our Resource Development Officer. He will work to support the campaign with supporters on a one to one level and via large scale email updates.

Mouse after gene therapy with untreated mouse