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Key Papers

Since 1966 when Andreas Rett first identified the symptoms of the syndrome that now bears his name, scientists from all over the world have furthered his work.  These papers contain some of the key findings in the history of Rett research, recent work with CDKL5 and FOXG1 as well as social and Rett related work.

Wong 2015 The trajectories of sleep disturbances in Rett syndrome

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. (1999) Amir, Van den Veyver, Wan, Tran, Francke & Zoghbi. Nature Genetics 23, 185 – 188

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome (2001) Guy, Hendrich, Holmes, Martin & Bird. Nature Genetics 27, 322 – 326

The Story of Rett Syndrome (1) From Clinic to Neurobiology (2007) Chahrour & Zoghbi.  Baylor College of Medicine Neuron DOI 10.1016/j.neuron.2

Experience of Gastrostomy using a Quality Care Framework  in Rett syndrome (Jenny Downs 2014) looks at feeding difficulties experienced and the parents’ experience of their child having a gastrostomy. Also looks at the different mutations; severity of feeding difficulties greater in those people with large deletion mutations such as R168x and R270x. This group more likely to end up having gastrostomies.

Reversal of Neurological Defects in a Mouse Model of Rett Syndrome  (2007) Guy, Gan, Selfridge, Cobb & Bird. Science 23 February 2007 Vol. 15 no. 5815, pp. 1143 – 1147007.10.001

Adrian P. Bird, Ph.D. is the world’s leading expert in the gene, MECP2, responsible for Rett syndrome when mutated. In 2007, Prof. Bird heralded a major breakthrough by reversing Rett symptoms in mice thereby suggesting the same may be true for human beings.

This research, identified the specific brain regions responsible for the symptoms of Rett syndrome. This identification will lay the foundation for possible gene therapy or protein replacement directed to specific brain regions for people with Rett syndrome.

Dr Adrian Bird had this to say about this milestone in Rett syndrome research “We now have proof of concept that Rett syndrome is likely to be a curable disorder. That changes everybody’s perception about how to move forward – in a hopeful way. ”

Rett syndrome on You Tube

Have a look at Adrian’s YouTube videos about Rett syndrome




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Guest blog: Many thanks to Susanne Crosby, whose daughter Mia has Rett syndrome for letting us share her blog originally written for Scope after Susanne was involved with their Face […]

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