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Research FAQs

What causes Rett Syndrome?

Rett Syndrome is most often caused by mutations in a gene called MECP2, on the X chromosome. 

This gene makes a protein, also called MeCP2 (but written differently), which is necessary for normal brain function.

Is a cure really possible?

In 2007, researchers at a lab at the University of Edinburgh were able to demonstrate that Rett Syndrome is reversible in mice. They did by genetically engineering mice so that they could be born without the MeCP2 protein.

These mice quickly developed Rett like symptoms.

When researchers were ready, they were able to bring the protein back.

They found that when the protein was returned, the symptoms of Rett Syndrome were reversed, even in models of late stage disease.

These experiments provided proof of principle that Rett Syndrome is a hypothetically reversible condition.

Why can’t they just do what they did in mice in people?

The mice in these experiments were genetically engineered so that they had, in layman’s terms, ‘a switch’ which could enable the protein to be switched back on. People with Rett Syndrome do not have such a switch and therefore we have to find another way to deal with the problem.

To better understand the reversal experiments, please watch the short video below:

 

What sort of research is going to help solve the problem?

Putting the protein back

We know that if we can get the MeCP2 protein back, at least in mice, that the symptoms go away.

We fund research aimed at increasing these protein levels.

Improving symptoms

We know that Rett Syndrome is a reversible disorder and that many of the symptoms could be managed, either individually or in combination.

We are funding laboratory and clinical research as well as clinical trials looking into ways to treat the symptoms that our children are living with today.

Understanding the causes

We don’t know enough about the underlying causes of Rett Syndrome, which stops us being able to find rational ways to fix the problem.

We fund research aimed at improving understanding of the underlying causes of the condition so that researchers can find rational ways to fix these issues.

How long will it take?

There is no simple answer to how long it will take to deliver a cure for Rett Syndrome. The only thing we know for sure is that the answers we need will only come through concentrated scientific research.

We also know that if we fund the right research, it will very likely happen faster.

The information here is designed to be simple and easy to read. For more complex information about the science behind Rett Syndrome, please go to the Genetics 101 section of the Rett Syndrome Research Trust website where you can also find detailed information regarding your child's mutation.