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 [...]

By |2017-05-19T00:30:44+00:00February 2nd, 2015|About the Research, Understanding the Causes|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 [...]

By |2015-03-02T23:23:41+00:00March 2nd, 2014|About the Research, Bypassing MeCP2|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 [...]

By |2015-03-02T23:24:08+00:00March 2nd, 2014|About the Research, Approaches to Research|0 Comments
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