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| Current Research Projects |
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The SMA Trust’s current research programme includes three of its own projects, and the support of two projects being undertaken by The Jennifer Trust for SMA (see Newletter No 3 on this website for more detailed information on these research efforts).
1. Oxford University: Motor Neuron Disorders Research Into Spinal Muscular Atrophy – a three year project which is supported by a grant of £437,000 by The SMA Trust.
The Oxford team under Professor Dame Kay Davies and Dr Kevin Talbot at the Department of Physiology, Anatomy and Genetics, is studying the basic pathological processes responsible for the death of motor neurons. The team has also identified an effect of a particular protein - SMN (Survival Motor Neuron) - as a more general motor neuron survival factor. Thirdly, a new set of binding partners for SMN in nerve cells has been discovered which contributes to the understanding of why SMA is a motor neuron specific disease.
2. Exeter University: Characterization of the SMN2,3,6 protein: is a minimal SMN protein functionally possible? - a one year project supported by a grant of £48,000 by the SMA Trust.
The Exeter team is led by Dr Philip Young and the specific work on this project will be undertaken by Debra Shaw as part of a one-year post-doctoral research fellowship. Debra was named the best up-and-coming UK based SMA researcher at the 3rd UK SMA Research Network Meeting, and the SMA Trust is pleased to be able to assist in keeping her within the SMA fold.
The Exeter research team is working on a theory relating to SMN proteins (see above). Positive finding may lead to a therapeutic clinical trial.
3. Oxford University: “Cellular models of spinal muscular atrophy using RNA interference” a six-month project supported by a grant of £21,625 by the SMA Trust.
This research is taking place within the Department of Physiology, Anatomy and Genetics (alongside our major project at Oxford) and will be carried out by Sarah Boddy who has made some important discoveries when completing her DPhil dissertation on SMA, that can be further exploited in gaining new insights into the disease.
The Trust’s funding will give Sarah the opportunity to deliver a fully functional viral system suitable for the generation of new cell lines to facilitate studies on the mechanism of SMA. She will also make a first attempt at a revolutionary approach to generating a new mouse model for the disease.
The Jennifer Trust is supporting two years of research: Viral Vectors-Mediated SMN Replacement in SMA. The SMA Trust has made a contribution to funding for the second year, amounting to £18,900.
This research is being led by Professor Mimoun Azzouz at the Academic Unit of Neurology, University of Sheffield. The treatment rationale for SMA is to halt or delay the degeneration of motor neurons, but to date there are no effective drug treatments. This research is about testing ways to deliver genes to enhance motor neuron survival.
The Jennifer Trust has also been supporting Professor Francesco Muntoni’s research project, entitled “Establishing a UK Clinical Network to Monitor Strength and Functional Measurements in Spinal Muscular Atrophy”. The SMA Trust has made a 34,000 contribution to this work
The project started in mid-2007 and is now drawing to a close. This is being undertaken by Anna Mayhew, who has been working as a child physiotherapist for fourteen years and has experience of working with SMA children.
Physiotherapists measure the physical skills, or gross motor ability of children with SMA as a means of determining what type of treatment might be most helpful. Collecting information on the progression of motor function over time is valuable – to individuals as a means of determining helpful exercises, and to the SMA community as a way to measure disease progression.
At present, no single scale has been agreed upon to measure gross motor function. An agreed scale is sought so that when a potential medication is available and ready for clinical trials testing, each participating centre can use the same scale to evaluate the effect of the medication. Anna is researching the available scales in the hope of selecting a gross motor outcome measure that will be adopted by *SMARTnet.
*SMARTnet is a clinical network of doctors and physiotherapists working in the UK who are concerned to provide best care for patients. The SMARTnet database will hold anonymous information on individual SMA sufferers and the clinical changes which occur over time. This is aimed at helping clinicians and physiotherapists to give accurate information to families about the progress of SMA and provide advice on rehabilitative intervention on an individual basis.
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