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11 Nov 2008
The Children’s Medical Research Institute (CMRI) has been awarded almost $50,000 by the Paul Newman Foundation for research into Rett syndrome.
Long-term CMRI supporters, the McKennas, know very well the importance of this funding—their 6 year old daughter Brodee has Rett syndrome.
“Brodee was officially diagnosed with Rett syndrome at two years and two months of age” said Mrs McKenna, “When she was 13 months old she would play with toys or hold a biscuit, but everything she picked up went straight into her mouth. We were trying to stop her from doing this then she stopped holding toys all together. She hadn’t started crawling or walking and we noticed she was grinding her teeth.”
This is a typical story for parents of girls with Rett syndrome. Their daughters may never walk, are likely to suffer epileptic seizures, and are at risk of scoliosis (curvature of the spine). The average life expectancy of a person with Rett syndrome is less than 50 years, during which constant care and attention are required in every aspect of daily living.
Rett syndrome is caused by a spontaneous genetic mutation that changes the levels of various proteins present in the brain. These altered protein levels are responsible for the symptoms of the syndrome.
In 2005, researchers at the CMRI, in collaboration with Professor John Christodoulou from The Children’s Hospital at Westmead, developed Australia’s first mouse model of Rett syndrome, an essential step towards understanding the basic biology of the condition.
The Paul Newman Foundation grant enables CMRI to purchase equipment needed to analyse proteins in the brains of mice with Rett syndrome.
This research is expected to be completed within two years. After this time, further funding will allow CMRI scientists to search for treatments that restore these proteins to more normal levels, possibly reducing the symptoms of Rett syndrome.
Paul Newman always said he had never had a problem with using his celebrity status to promote his hugely successful quality food products, which is best summed up in his tongue-in-cheek branding tagline—“Shameless Exploitation in the Pursuit of the Common Good.”
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