Oxford researchers to develop new approaches to tackle blindness, leukaemia and muscular dystrophy
31 April 2011
The awards, among the first to be made under the initiative, are to develop a potential treatment for a form of incurable blindness, improved tests to determine different types of leukaemia and improved treatments for the most lethal form of muscular dystrophy.
Dr Matthew Wood of the Department of Physiology, Anatomy and Genetics has received £2.5m for research into Duchenne muscular dystrophy, the most deadly form of the disease. It is caused by damage to the dystrophin gene and affects one in every 3500 newborn boys.
Dr Wood and colleagues at the MDEX Consortium, a UK-based translational medicine network of neuromuscular disease experts, have successfully trialled a treatment using antisense oligonucleotides, which can repair the gene and restore functional dystrophin to the muscles of patients affected by the disease. Currently, the treatment is only moderately effective in skeletal muscle and does not work on heart muscle.
The research team is now developing a new generation of the drugs that will dramatically improve the delivery and restoration of dystrophin by all muscle. The treatment will be tested in a clinical trial on nine patients, starting in 2013.
Dr Wood said: "Being selected as one of the first recipients of a Health Innovation Challenge Fund award is a fantastic opportunity to expand our world-leading science and to develop and test a ground-breaking new treatment for Duchenne muscular dystrophy, a devastating disease where new treatments are desperately needed."
Professor Robert MacLaren, from Oxford University’s Department of Ophthalmology, has been awarded £1.2m to investigate a new treatment for choroideraemia, an incurable blindness and form of retinitis pigmentosa (a disease causing damage to the retina).
The problem develops in childhood and often runs in families; night blindness is the most likely initial symptom. The disease mostly occurs in men who become totally blind, usually in their 40s.
Professor MacLaren and Professor Miguel Seabra from Imperial College London, an expert in the molecular biology of choroideraemia, have developed an experimental genetic treatment, which has been tested successfully at Oxford University’s Nuffield Laboratory of Ophthalmology. They plan four more years of research on a potential gene therapy treatment.
Dr Samantha Knight, Dr Jenny Taylor, Dr Anna Schuh and Professor Chris Holmes from the Wellcome Trust Centre for Human Genetics and the National Institute for Health Research Oxford Biomedical Research Centre have developed specialised approaches to test the genetic make-up of blood cells from patients with B-cell chronic lymphocytic leukaemia (CLL).
Leukaemia is a form of cancer that affects blood cells and arises in the bone marrow or lymphoid organs. There are several types of leukaemia, depending on which cells are affected. To be effective, treatment must be tailored to the individual. However, current genetic tests used to guide therapy are not sufficiently precise. This means that some patients suffering from leukaemia may not respond to treatment or may suffer adverse side-effects.
Dr Knight and colleagues have been awarded £730 000 to enable their work to be validated in a three-year study using patient samples from the UKCLL National Cancer Research Network trials.
More precise detection of relevant genetic alterations will allow doctors to provide the most suitable treatment for patients, reducing mortality and NHS care costs and minimising the side-effects of treatment.
Dr Knight said: "The Health Innovation Challenge Fund has provided us with a unique opportunity to develop an approach that will modernise the genetic testing of leukaemias within the NHS. It will enable doctors to provide individually tailored patient treatments, minimising side-effects and mortality and reducing NHS costs."
Image: Nerve in skeletal muscle, showing the location of dystrophin (red). Credit: Professor Peter Brophy, Wellcome Images.
