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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.
December 2013 - December 2014
Charity information: Reverse Rett
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.
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.
To fund the gene modifier screen at the lab of Monica Justice at Baylor College of Medicine.
Activities» Deliver £120,000 to support this project for six months
What success will look like
We will deliver 100% of funds raised to this project. We produce regular updates to include reporting research developments on our website and through social media.
This work will inevitably yield potential therapeutic targets for Rett syndrome, whether these address the amelioration of individual symptoms or the overall effects of the condition. But the screen will also no doubt yield vital information that will inform our understanding of the underlying mechanisms of MECP2, in terms of how the negative effects of an MECP2 mutation are circumvented by mutations in other genes. At 15% of the way through the screen, so far we have identified 5 modifiers.
The lab has already agreed to undertake this work. We do not forsee any risks affecting this project.
Donors will receive updates on this work on a regular basis, as and when information is proferred by the lab. On publication of any data from this project, we will provide written resources as well as video animation and interviews to clarify research developments where necessary.
Budget - Project Cost: £130,000Loading graph....
Amount Heading Description £130,000 Gene Modifier Screen We will fund the Gene Modifier Screen at the lab of Monica Justice for 6 months
Current Funding / Pledges
Source Amount Marc Souter £30,000 Conditional Jenny McMillan £2,500 Conditional
This gene modifier screen will take place at the lab of Monica Justice at Baylor College of Medicine in Texas: http://www.bcm.edu/db/db_fac-justice.html
An estimated 1:10,000 girls and women worldwide are affected by Rett Syndrome. There are also children severely affected with related MECP2 Disorders, all of whom will ultimately benefit from a better understanding of the science behind Rett/MECP2. Treatment for any of these children, at any level, from symptom management to an out and out cure, would be life changing, not only for these children but for the families who love them.
Reverse Rett is the only UK charity exclusively focused on accelerating treatments and cures for Rett Syndrome. SInce our inception in July 2010, we have committed over £1.5 million to research projects focused on our solution. Run by parents of children with this disorder, we are driven to do whatever it takes to see treatment developed in our children's lifetimes.
Read more about the Charity running this project.
Rachael is Executive Director of Reverse Rett. She has successfully executed 3 Big Give campaigns, each year growing the target!
Andy is our Fundraising Manager. He will work closely with donors and fundraisers to ensure that they are able to complete their donations on the day!
Kelly is our Chair of Trustees. She will work to ensure that our pledges are secured for the core fund.
Helen is Vice-Chair. She will work to support the campaign via social media and large scale email updates.
“We are only 15% of the way through the screen, and so far we have identified 5 modifiers"