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Project information

The Time is Now

Gene therapy attacks Rett Syndrome at its root by replacing an unhealthy gene with a healthy one and could not only treat multiple symptoms but may ultimately lead to a cure for Rett.

The RSRT Gene Therapy Consortium is now completing its 3rd year working towards this goal. We want to help them.

January 2017 - December 2017

Charity information: Reverse Rett

Reverse Rett logo
  • 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 but the disease has already been reversed in a mouse model.


    The concept behind gene therapy is simple: deliver a healthy gene to compensate for one that is mutated.

    It has already been proven that a single one-time administration of a gene therapeutic can restore health in the mouse model of this disease.

    RSRT’s Gene Therapy Consortium is a collaboration of four labs that are in their third year of working together to develop effective methods to use Gene Therapy to reverse Rett Syndrome in people.

  • Aims

    Aim 1

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


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

    What success will look like

    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


    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 the transformation of the lives of people with Rett Syndrome and their families.

    In the shorter term, success of this project could be measured as the Consortium moves this Gene Therapy lab work into human clinical trials.


    There are four major challenges to using gene therapy effectively and safely. One is designing and testing vectors. The second challenge is selecting the optimal pieces of the Rett gene to deliver. A third challenge is the delivery route itself; blood stream, spinal fluid, or directly into the brain. A final challenge is optimizing how much gene therapy to deliver. RSRT’s Gene Therapy Consortium are tasked with solving these problems and ‘de-risking’ the process before moving to human trials.


    Donors will receive updates on this work on a regular basis, as and when information is provided by the Consortium. On publication of any data from this project, we will provide written resources as well as video animation and interviews to clarify developments as appropriate.

  • Budget

    Budget - Project Cost: £140,000

    Loading graph....
      Amount Heading Description
      £140,000 The Time is Now Funding RSRT Gene Therapy Consortium to push Gene Therapy for Rett closer to human clinical trials.
  • Background


    The RSRT Gene Therapy Consortium is a collaboration between four labs; Stuart Cobb, University of Glasgow | Steven Gray, University of North Carolina | Brian Kaspar, Nationwide Children’s Hospital | Gail Mandel, Oregon Health & Sciences University


    People with Rett Syndrome and related MECP2 disorders and their families, friends and communities across the world will benefit from the development of a potentially transformative treatment for this devastating disorder.

  • 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.

    We fund more Rett Syndrome research than any other UK charity having delivered over £3 million to international research in the last six years.

    Find out more here: http://www.reverserett.org.uk

    Read more about the Charity running this project.


    Rachael Stevenson

    Rachael is Executive Director of Reverse Rett. She has successfully executed 5 Big Give campaigns with a total of £ £358,902.52 raised!

    Andy Stevenson

    Andy runs Fundraising and Communications for Reverse Rett. He will work with donors and run social media/website communications around the challenge.

While traditional drug approaches will likely be restricted to correcting specific aspects of what goes wrong in Rett it is conceivable that gene therapy can correct the cause of Rett at its very source and thus provide a profound recovery of function.

Stuart Cobb