We fund Rett Syndrome research at two labs at the University of Edinburgh and international MECP2 Duplication research through our longstanding partnership with the US based, Rett Syndrome Research Trust (RSRT).
RSRT are responsible for peer review and monitoring of Rett and MECP2 Duplication projects. Working together, we aim to fund projects that will transform the lives of children and adults with these disorders.
The focus of our UK clinical work is to ensure that as treatments and a cure for Rett Syndrome become viable, they are accessible to patients in the UK.
CPMRS has a special focus on assessing, treating and providing holistic care to people with Rett Syndrome of all ages who present with complex health issues.
The team at the CPMRS is led by Professor Paramala Santosh. Professor Santosh is a world-renowned expert in managing emotional, behavioural and autonomic dysregulation in children and adults with rare diseases and has a special interest and expertise in managing those patients deemed to be at greatest risk.
As well as treating individual patients, the CPMRS focuses on providing holistic specialist care, conduct clinical trials, developing digital health strategies to monitor and manage patients, whilst conducting research and disseminating wider learning. To find out more about the CPMRS and to find out how to obtain a referral, you can find more information here.
Rett has already been reversed in the lab, but before it can be replicated in people we need to make sure the therapies are safe and effective. Too much MeCP2 protein can be as bad as too little; the level needs to be ‘just right.’ Our first research strand is funding the work of Dr Stuart Cobb, who aims to control the amount of MeCP2 delivered by gene therapies very precisely. His Edinburgh team is using a range of cutting edge technologies: from ‘big data’ computer science, to gene manipulation and design control mechanisms that allow healthy MeCP2 to be delivered to Rett patients without damaging side-effects. Work which we have previously supported through RSRT’s Gene Therapy Consortium, led to development of Rett clinical trial protocol by AveXis, a Novartis company. Find out more about UK based gene therapy work on the Cobb lab’s website here.
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 it’s very source and thus provide a profound recovery of function.”
Dr Stuart Cobb, Simons Fellow and Reader in Neuroscience at the Patrick Wild Centre and Centre for Discovery Brain Sciences, University of Edinburgh.
We have a clear strategy to translate work from the laboratory to reach Rett patients both in the UK and across the world. The graphic below shows how it all fits together, and how we’re dedicated to removing barriers that could prevent cures reaching those who need them.