Rett Syndrome Research Trust

Finding a cure

Retts Syndrome Research Trust is a foundation dedicated to research into treatment of the physically disabling autistic disorder Retts syndrome. It has established a highly-respected advisory board of scientists, established dialogue with pharmaceutical companies and launched a high-profile series of international workshops on the problem.

TFWA began supporting the Retts Syndrome Research Trust following a recommendation from a TFWA member company representative. Its funding has contributed to several projects, with 96% of TFWA’s donations so far going directly to research into the treatment of Retts Syndrome.

Project Report

TFWA Care’s funding is supporting cutting-edge research into a new process to reverse the debilitating effects of Rett Syndrome.

Rett Syndrome is the most physically disabling of the autism spectrum disorders and the only one with a known genetic cause – a mutation in the MeCP2 gene.  Primarily affecting girls, it usually strikes by 18 months of age, often just after a child has learned to walk and talk. As the cascade of symptoms descends, she loses acquired skills, normal movement and speech, beginning a regression that may leave her wheelchair bound, unable to communicate or use her hands. There are an estimated 350,000 girls and women with Rett Syndrome around the world.

The effects of Rett Syndrome can be reversed in some cases by activating the silent, mirror image MeCP2 gene found on the girl’s other X chromosome. Rett Syndrome Research Trust is working with Dr Antonio Bedalov at Fred Hutchinson Cancer Research Center in Seattle to create a new process that will allow rapid screening of compounds to identify which can activate the silent gene.

Future steps in the research will involve the screening of large libraries of compounds for their ability to reactivate the gene, as well as identifying other genes whose inactivation can reactivate the MeCP2 gene.