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Project information

Making Rett History

In 2017, bio tech company AveXis have committed to advancing Gene Therapy for Rett into human clinical trials. Our focus is now to support the continued work of the GT Consortium as they work full speed ahead on improved second-generation GT techniques.

January 2018 - December 2018

Charity information: Reverse Rett

Reverse Rett logo
  • Need


    Rett Syndrome strikes at random in early childhood, affecting little girls almost exclusively. Most girls 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 (GT) is simple: delivery healthy copies of the MECP2 gene to compensate for the mutated ones.
    Recent results from RSRT’s GT Consortium have exceeded expectations, suggesting that significant benefit may be achieved in people.
    In 2017, biotech company, AveXis, has committed to advancing a GT candidate into human trials.
    Our focus is now to support the continued work of the GT Consortium as they work full speed ahead on improved second-generation GT programs.

  • Aims

    Aim 1

    We will financially support the work of the RSRT Gene Therapy Consortium


    » 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 with the implementation of second generation gene therapy human clinical trials.


    There are four major challenges to using gene therapy effectively and safely. One is designing and testing vectors. The second is selecting the optimal pieces of the Rett gene to deliver. A third 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: £100,000

    Loading graph....
      Amount Heading Description
      £100,000 Funding Gene Therapy Cons. Funding the RSRT Gene Therapy Consortium for their work to prepare Gene Therapy for human trials
  • Background


    The RSRT Gene Therapy Consortium is a collaboration between four labs; Stuart Cobb, University of Edinburgh | Steven Gray, University of North Carolina | Gail Mandel, Oregon Health & Sciences University | Alysson Muotri, UC San Diego


    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 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 £5 million to international Rett Syndrome research in the last six years.

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

    Read more about the Charity running this project.

    Read more about the Charity running this project.


    Rachael Stevenson

    Rachael is Executive Director of Reverse Rett. She has successfully executed 7 Big Give campaigns with a total of more than £450,000 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