SMA Type 1
Spinal Muscular Atrophy (SMA) is a motor neuron disease.
The most severe form of the disease, SMA Type 1, is also known as Werdnig-Hoffman Disease and is the leading genetic killer of children under the age of two. Around 1 in 6,000 babies born have SMA, and 1 in 40 people are genetic carriers. SMA is an autosomal recessive genetic condition, meaning each parent must pass on the gene for a child to be affected.
Two years ago Rick and Ruth Steven met with Muscular Dystrophy Western Australia (MDWA) and learnt of the amazing research being done by Professor Steve Wilton and his team. Rick and Ruth made the decision to donate the funds raised through TEAM Spencer to MDWA to help fulfill their vision of finding a cure for SMA.
Professor Wilton and his team are developing “genetic band aids” that can modify gene expression. By masking the disease-causing portion of a gene message, it is possible to restore expression of a protein lacking in the most common and severe form of childhood muscle wasting, Duchenne MD. Trials of this compound in children in the UK have confirmed proof-of-concept. These genetic band aids can be modified to treat other forms of muscular dystrophy, including Spinal Muscular Atrophy. Through TEAM Spencer we hope to raise awareness of SMA and provide funding for this vital research.