To Hannah – the night before Christmas

Eight years ago this Christmas, when I was six months pregnant with you, my first born child, my sister (your aunty) gave me a blank book. She had had her own first child 7 months earlier, and in the front of the book she wrote that it was a journal for us to record those special early moments, as we [...]

By |2017-05-19T00:30:45+00:00January 2nd, 2015|Uncategorized|1 Comment

Milestones

I sit across the other side of the room to my husband. We take it in turns to hold out our arms and call her name in high-pitched voices, smiling, trying to entice her to take those few fragile steps in our direction. When she gathers the courage to begin, we speak soft encouraging words, anxious not to distract but [...]

By |2017-05-19T00:30:45+00:00January 2nd, 2015|Uncategorized|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 |2015-03-02T23:52:32+00:00March 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 [...]

By |2015-03-02T23:23:41+00:00March 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 [...]

By |2015-03-02T23:23:54+00:00March 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 [...]

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