Understanding the Causes of Rett Syndrome

Certain key things are known about what causes Rett, which is a huge advantage in terms of trying to find treatments and a cure. We know that:

It is a single gene disorder.
It has been widely demonstrated to be reversible when the missing protein is replaced at adequate levels.
The condition was demonstrated to be reversible, without anyone really knowing what the […]

By |February 2nd, 2015|About the Research, Understanding the Causes|0 Comments

The Development of New Clinical Trials in the UK

In February 2015, Reverse Rett announced that they had “committed seed funding to Dr Paramala Santosh and his research team at King’s College London for an innovative new clinical research project which seeks to establish comprehensive and effective, patient-orientated behavioural and physiological outcome measures for patients with Rett Syndrome.”

To read more  about what these trials entail, and what they mean for […]

By |March 2nd, 2014|About the Research, UK Clinical Trials|0 Comments

Improving Symptoms

Rett Syndrome comes with a whole host of difficult symptoms which affect daily life. Alleviating even one of these symptoms can significantly improve the quality of life for the girls and their families. There are several different approaches to this research, none of which I will go into at length here as it’s highly scientific and complex, but if you […]

By |March 2nd, 2014|About the Research, Improving Symptoms|0 Comments

Bypassing MeCP2

Again, this is rather a complex scientific notion for most of us (well, me!), but in short the idea is to identify other genes which, when mutated, somehow protect an individual from a MeCP2 mutation.

There are people who have common MECP2 mutations and normal X chromosome inactivation who do not have Rett Syndrome. Identifying which genes protect some people from […]

By |March 2nd, 2014|About the Research, Bypassing MeCP2|0 Comments

Putting the Protein Back

Rett Syndrome is caused by a lack of MeCP2 protein. Putting the protein back in mice, reverses symptoms.
In 2007, Adrian Bird’s lab demonstrated that the symptoms of Rett Syndrome could be successfully reversed in mice when protein levels were restored. Putting the protein back in people could be accomplished in a number of ways. Here are two approaches which Reverse […]

By |March 2nd, 2014|About the Research, Putting the Protein Back|0 Comments

Approaches to Research

There are several different approaches in terms of research:

putting the protein back: this approach aims to recreate the successful reversal experiments on mice, from 2007, which showed that putting the MeCP2 protein back reverses the symptoms of Rett.

 

improving symptoms: many of the symptoms of Rett could be managed, either individually or in combination. Laboratory and clinical research looks into ways to […]

By |March 2nd, 2014|About the Research, Approaches to Research|0 Comments