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AGSD (UK) awards grant for McArdle research

News Release - 2nd February 2006

AGSD (UK) has approved a grant to support research into model systems for developing therapies for McArdle's disease. This work will be carried out by the newly created Centre for Inherited Neuromuscular Disease (CIND) at the Robert Jones and Agnes Hunt Orthopaedic Hospital (RJAH), Oswestry. The research will be led by Prof. Glenn Morris, Professor of Biochemistry and Dr. Ros Quinlivan, Consultant in Paediatrics and Neuromuscular Disorders.

The lay summary of the grant application stated:

    “This is an application to fund pathfinder research into McArdle’s disease, a genetic disorder causing physical disability in patients of all ages, with the aim of finding novel approaches to therapies that will improve their quality of life.

    The main aim is to create human and mouse cell culture models with the R49X mutation* of McArdle’s disease, either added artificially to cultured cells or using skin or muscle cells from McArdle’s disease patients. We will then use gene therapy and oligonucleotide “drug” treatments to try to correct the mutation efficiently, using methods currently being developed for Duchenne muscular dystrophy by many groups around the world. When these methods are validated for Duchenne, we will have laid the groundwork for applying the technology to McArdle’s treatment. The possibility of a zebrafish embryo model to study therapy in a whole animal will also be investigated as part of this project.

    The project will bring together two research groups, a clinical group with specialist experience in McArdle’s disease and a molecular group with experience of therapy-oriented research in other neuromuscular diseases. These two groups are both located at the RJAH in Oswestry and form a major part of a newly-created Centre for Inherited Neuromuscular Disease, which will eventually be housed in a purpose-built building (TORCH Centre) for integrated studies of physical disability in children.”

*R49X, more recently referred to as R50X, is the most common mutation in the UK covering about 85% of patients.

Although McArdle’s disease itself is rare, it offers an unusual opportunity to study a novel approach to therapy that, if successful, may be more widely applied to genetic diseases.

The AGSD Executive Committee has been very pleased to be able to make this award of £20,000, which is our first substantive research grant for McArdle's. The Institute of Orthopaedics at the RJAH has also supported this project. Our award has assisted CIND to leverage other funds to cover the remainder of the cost of the project. The research project has commenced; a PhD research student from Keele University has been appointed for a 3 year period, working with Prof. Morris.

This funding has been made possible by the dedicated efforts of all involved with the AGSD sponsored bike rides, in particular the late Tim Arthur who developed the concept and led the team which established the first ride in Vietnam. Our sincere thanks go to them on behalf of all who may benefit in the future from this research.

Should anyone be interested in reading the technical detail of the CIND application, a full copy is available from Andrew Wakelin, McArdle's rep to AGSD.