IMPROVING DIAGNOSIS AND SCREENING FOR RETT SYNDROME

At Reverse Rett, we are already focused on diagnosis and screening. In 2023, we have three priorities in this area:

Through the Count me In campaign, we’ll be reaching out to neurologists, special schools, care homes and community learning disability teams to make sure they know how to identify someone with Rett Syndrome. Once identified, we’ll be working to make sure that those individuals are registered on the Rett Registry UK

We’ll be reaching out to industry partners, biotech companies and genetic screening specialists to find a way for no cost or low cost MECP2 screening to be made available for UK young children with Rett Syndrome who may be candidates for upcoming gene therapy trials.

The NHS Newborn Genomes Programme research study aims to sequence and analyse 100,000 babies’ genomes for a set of actionable genetic conditions which may affect their health in early years.

Rett Syndrome is not included in the study because currently there are no effective treatments.

But with one gene therapy trial underway and another due to begin later this year, it’s part of our role to make sure Rett Syndrome is on their radar so that when treatments are proven to be effective, no children are left undiagnosed and therefore unable to access those treatments.