Taking the first steps to tackle Muscular Dystrophy
Our research means that now, for the first time, there could be hope for Muscular Dystrophy sufferers and their families. Professor Kay Davies FRS, CBE University of Oxford |
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Professor Kay Davies has been Dr Lee's Professor of Anatomy at the University of Oxford since 1998. Together with her 5-strong team, she is working towards treatment for Muscular Dystrophy, a disease causing long term suffering and early death for thousands of boys and young men around the world every year.
Relentless and fatal
Professor DaviesT research centres on the molecular analysis of human genetic disease, and particularly on the genetic basis of neuromuscular and neurological disorders. She first became interested in Muscular Dystrophy more than 20 years ago and much of her research is dedicated to finding effective treatments for Duchenne Muscular Dystrophy (DMD) the most common form of the disease. This is a particularly relentless and fatal form of the muscle wasting disease which kills two boys every week in the UK alone.
She explains the effects. Muscular Dystrophy is a disease caused by a single gene deficiency. The most common forms affect boys - they go into a wheelchair at 12 and usually die in their late teens or early 20s. Many will end up on a ventilator full time as their condition deteriorates. Often there is no previous family history and the disease only comes to light when a child develops the first signs of muscle weakness at about the age of five.
Making progress
Her research group has an international reputation for this work. In the 1980s she developed a test which allowed for the screening of foetuses whose mothers have a high risk of carrying DMD.
But her work has also brought hope of a treatment. DMD occurs when the cytoskeletal protein dystrophin fails to express in muscle cells due to a mutation in the gene which codes for the protein. The result is muscle cells which lack the proper connectivity, and muscles which are effectively torn apart at a cellular level as they are used.
The challenges
Her team's discovery of a similar protein which is present in the muscles and which could take over the work of the missing protein provides one direction of research.
As she explains We are taking a novel approach to treatment through the analysis of a protein closely related to dystrophin, called utrophin. We have demonstrated that over expression of utrophin where dystrophin is lacking prevents the muscle pathology in both skeletal and cardiac muscle.
The painstaking laboratory research which will pave the way for a drug to allow utrophin to compensate is now underway, but as she explains, advanced techniques will be needed.
Therapy for DMD is a challenge since the protein is large and needs to be delivered to muscle cells throughout the body.
The sort of treatment we're looking for requires a technique called gene therapy, where you disable a virus like the cold virus, remove the harmful elements and replace those with the human gene that's missing. Because viruses can infect muscle cells very easily you can then inject that virus into the muscle, and allow the virus to produce the missing protein which then produces a good functional muscle.
The hurdles to overcome
The challenges do not end there. Ways to overcome the body's immune response to the virus will have to be found, and there are practical issues with delivering the virus to all muscles including the heart. But Professor DaviesT work still holds out the best hope for progress on the disease and has been enthusiastically welcomed, not just by the medical community but also by the children and their families who have to deal with the devastating impact of the disease on their lives and who are desperate for a cure.
Supporting Professor DaviesT work
Professor Davies was made a Fellow of the Royal Society in 2003 and received her CBE in 1995.
