08/H0906/143

Newcastle and North Tyneside 1 Research Ethics Committee

Newcastle University, Institute of Human Genetics

MRC Centre for Neuromuscular Disease (Newcastle) Tissue Storage Facility

MRC Centre for Neuromuscular Disease (Newcastle) Tissue Storage Facility

Prof K M D Bushby
Institute of Human Genetics
International Centre for Life
Central Parkway,Newcastle upon Tyne NE1 3BZ

0191 241 8762

kate.bushby@ncl.ac.uk

DNA, fibroblasts, muscle

None

The increase in our knowledge of which genes and proteins may be involved in inherited diseases of muscle and mitochondria has, at present, not been matched by a clear understanding of why mutations in these paticular genes cause disease, or how these mutations contribute to the phenotype in idividual patients. These questions relate to many inherited muscle and mitochondrial disorders, each of which may be individually very rare. As we are a specialised centre for the diagnosis and mangement of muscle and mitochondrial diseases, we are in a unique position, which enables us to to contribute to the international body of data on the genes and proteins involved in these disorders. Patients attending our specialised clinics donate samples surplus to diagnostic requirements to the research tissue bank. This application acknowledges the considerable resources that we have at our disposal, and formalises their collection into a useful and comprehensive resource which we intend to develop in the future and use for reseach projects within this field.

Examples of the types of research which may be carried out relate to the disciplines of genetics and pathology and samples might be used for research internally or on request from researchers elsewhere. For example, a research lab here or elsewhere might have been responsible for the identification of a new disease gene. We would be able to identify patients at the clinical level for whom such testing might be relevant and send their anonymised sample to the relevant lab for testing. This will add to the body of knowledge about the genetic causes of disease, and also may be of benefit to the patients as results will then be confirmed in a diagnostic lab setting. Another example may be that a novel protein or disease mechanism had been identified which could be responsible for a type of muscle disease. We could then study it for primary and secondary effects in a relevant patient cohort, adding to knowledge about disease mechanisms and possibly opening therapeutic possibilities.

Favourable Opinion

not yet received