Rett Syndrome Research
By Dave Hewetson, Shropshire Disability Network
Imagine the symptoms of autism, cerebral palsy, Parkinson's, epilepsy, and anxiety disorders…all in one little girl. That describes what sufferers with Rett Syndrome have to put up with – sufferers like little Clara (my granddaughter, pictured).
Rett Syndrome is rare, affecting around 1 in 15,000 female births across the world. (Boys who are born with Rett Syndrome generally don’t survive). That means there are around 2,000 girls in the UK with Rett Syndrome, and about 200,000 around the world. But, believe it or not, that makes it the 2nd most common neurological disease for females, after Down’s Syndrome. For information, there are about 30 times as many girls with Down’s as there are with Rett.
In 2005, Clara was around 12 months, and appeared to be developing normally. She crawled, she played with toys, she babbled. And then her development inexplicably stalled at first, and then started to regress. She stopped crawling, she was unable to coordinate her movements, and eventually lost all use of her hands. Nobody knew what was wrong. A consultant at Birmingham Children’s Hospital examined Clara, and mentioned the possibility of her having Rett Syndrome. We went on the Internet, to find the horrors that lie ahead for girls with the condition – no mobility, no speech, severe epilepsy, very little muscle development, and, as a result of that, scoliosis
(curvature of the spine). In due course, the diagnosis was confirmed, and little Clara has been struggling with the condition ever since, usually with a smile on her face it has to be said.
Research History
The pattern of characteristics associated with Rett Syndrome was first described in 1966 by the Austrian doctor, Professor Andreas Rett. In 1999, pretty recently really, research scientists in the U.S. discovered that the source of the disorder was a mutation, or fault, on the MECP2 gene on the X chromosome.
A critical breakthrough came in February 2007, when Professor Adrian Bird, of Edinburgh University, successfully reversed the symptoms of Rett syndrome in mice, by expressing a working version of the MECP2 gene that had been switched off for a month. In other words, he proved that the brain cells were in no way destroyed, and started to function perfectly well once the MECP2 gene could be activated. This was a stunning result, which was voted in scientific journals as one of the top 3 scientific achievements anywhere in the world in 2007. The profile of Rett Syndrome research suddenly became huge within the scientific community, even if the world at large still hadn’t heard about the condition. This is because the implications of Adrian Bird’s work are much wider than the treatment of Rett Syndrome. Researchers into autism, schizophrenia, Parkinson’s have taken heart from his work, and have been re-evaluating previously accepted theory in their fields.
This landmark research changed everything about the approach to research into Rett Syndrome. Before, the emphasis was on finding ways to reduce the symptoms. Since then, the emphasis has switched to finding ways to remove the symptoms one by one, and to cure Rett Syndrome, even in girls like Clara, who have been living with it for some years. Rett syndrome is in a unique place now – its source gene is known (MECP2), its source is in that single gene, and not multiple genes like other conditions, and it has been reversed in the laboratory. These are very encouraging pointers to the possibility that Rett Syndrome might be the first genetic condition to be defeated by science.
Supporters of Clara have helped raise nearly £11,000 since 2007 toward finding a cure for Clara and the other girls. In turn this has made Clara's group of supporters one of the UK's biggest contributors to research funding. There are scientists around the world working at Nobel laureate level towards a cure, with the help of their contributions. I summarised recent research work in a Rett Syndrome Conference report, which you can read at http://www.rettsyndrome.ie/. Last month, evidence of the scientific profile of Rett research was confirmed by Canada's Gairdner Foundation’s award to Adrian Bird.. This is the world's 2nd most prestigious award after the Nobel Prize, and 19 out of the past 26 Gairdner winners have gone on to win the Nobel Prize in the same year. Adrian Bird, and US scientists, expect to pioneer gene therapy in their labs by the end of 2011. If this is successful, we would expect clinical trials of this approach (on some of the girls) to begin in 2014 / 2015. Other scientists working at Nobel Laureate level in the US and Europe are racing towards a cure using various approaches.
We're more confident than ever now that Rett Syndrome will be the first neurological disease to be defeated by science, but still we need to accelerate the progress, because many of the girls are living life on the edge of survival. The Rett Syndrome Research Trust is the most significant body that is funding and directing neuroscientists around the world towards their aim of curing the disease, within 5 to 10 years. (visit www.reverserett.org.uk). They channel over 95% of income directly to research projects worldwide. However, funding is frustratingly light. Across the world last year, a total of $US 4 million was raised, and we’re currently engaged in trying to boost that sum, so that we might take bigger and more rapid steps toward a cure for Clara and all the other girls. There’s a preview of a professional video we’re trying to get aired on terrestrial TV at http://www.rsrt.org/news/RETT-Documentary.html.
Please consider supporting Clara, and becoming part of this amazing story.
By cheque: to "Clara's Research Funding Circle":
Dave Hewetson, 11 Kingston Drive, Shrewsbury SY2 6SD
On-line Transfer:
Account: Clara's Research Funding Circle Sort Code: 40-41-30
Account No: 92097184
JustGiving
http://www.justgiving.com/David-Hewetson , where you can see Clara and a short video about the research.
Thank you for taking the time to read this note. Dave Hewetson
