Project information

Out SMaRT Rett

Rett Syndrome is caused by a mutated gene called MECP2. The gene makes a protein which everyone needs for normal brain function. Scientists at Edinburgh University are exploring a new approach, SMaRT technology as a means of restoring Mecp2 protein and correcting 97% of Rett mutations at source.

January 2019 - January 2020

Charity information: Reverse Rett

Reverse Rett logo
  • Need

    Need

    Rett Syndrome is a devastating condition affecting previously healthy little girls, robbing them of their speech, mobility and the use of their hands in early childhood. There is no cure.

    Gene therapy has been shown to reverse Rett in murine models of the disease. In GT, broken genes are replaced with an entire copy of the working gene, which can then make the protein.

    But too much Mecp2 protein is as dangerous as too little. The level needs to be in the Goldilocks zone, ‘just right.’


    Solution

    Rather than replacing the entire gene, including DNA, SMaRT technology works at the RNA level, allowing scientists to ‘splice out’ the disease causing regions of RNA and bridge healthy RNA together.

    The advantage of this approach is precision. If effective, SMaRT technology could deliver healthy Mecp2 back to cells without the chance of delivering too much.

    The goal of the project is to create a single SMaRT therapy that can be moved into development as a therapy for humans, correcting 97%

  • Aims

    Aim 1

    We will financially support the work of the Cobb lab in Edinburgh for work on SMaRT technology.


    Activities

    » Provide funding to the Cobb Lab at Edinburgh University for work on SMaRT technology.

    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

    Impact

    SMaRT, because of its potential to correct mutations without adverse side effects, has the ability to dramatically change the lives of children and adults suffering from this debilitating condition.

    Symptoms of Rett could be improved and/or eliminated. The long term effects would therefore be transformative and clearly demonstrable, as the lives of those with Rett would be visibly dramatically altered.

    Formal development at a pharmaceutical company would demonstrate shorter term success.

    Risk

    This project will be funded by Reverse Rett via our existing partnership with the Rett Syndrome Research Trust. There are multiple other funding sources involved in the continuation of this work.

    Reporting

    Donors will receive updates on this work on a regular basis, as and when information is provided by the Cobb Lab. On publication of any data, we will provide written resources, video animations and interviews, via our website, social media and mailshots, to clarify developments as appropriate.

  • Budget

    Budget - Project Cost: £80,000

    Loading graph....
      Amount Heading Description
      £80,000 Cobb Lab-SMaRT Technology Funding the Cobb Lab for their work to develop SMaRT as a therapeutic for Rett Syndrome
  • Background

    Location

    The Cobb Lab is at the University of Edinburgh. The group is embedded within the Patrick Wild Centre, a large and vibrant institute dedicated to understanding and treating neurodevelopmental disorders. They also benefit from the outstanding range of expertise in molecular and cell biology, medicine and other sciences at Edinburgh University. The Cobb Lab are also part of an international collaboration with colleagues from other GT and MECP2 Labs around the world.

    http://www.cobblab.science/

    Beneficiaries

    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.

    The scientific community will benefit from the findings of this project, which may prove informative to research into other neurological conditions.

  • 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 £6 million to international Rett Syndrome research in the last eight years.

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

    Read more about the Charity running this project.

    People

    Rachael Stevenson

    Rachael is Executive Director of Reverse Rett. She has successfully executed 8 Big Give campaigns with a total of more than £500,000 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.

    Beth Johnsson

    Beth is Events and Campaigns Coordinator at Reverse Rett. Beth will help plan and write communications around the campaign.

    Wesley Havill

    Wesley will provide general administrative support to the campaign and will build graphics to support communications as needed.