Project Lead – Kath Smith
Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of the cell, especially the chromosomes. The testing undertaken within the department is valuable at looking for previously unknown chromosomal changes that can lead to children with cancer, dysmorphic features, developmental delays, mental retardation, and autism.
This is a service development project. The key deliverables of this project will be to review and assess our arrayCGH service with respect to its efficiency of processing, cost per patient, diagnostic resolution and the robustness of the testing regimen. We will be assessing the potential replacement of conventional methods of processing and analysis by investigate further the technologies available to improve the resolution of arrayCGH, and to improve the practical process in the diagnostic laboratory to streamline process protocols. The Cytogenetics project groups has three areas of focus:
Focus Area 1
An evaluation of Micro-array platforms – Micro-arrays allow scientists to analyze expression of many genes in a single experiment quickly and efficiently. They represent a major methodological advance and illustrate how the advent of new technologies provides powerful tools for researchers. Scientists are using micro-array technology to try to understand fundamental aspects of growth and development as well as to explore the underlying genetic causes of many human diseases. The micro array platforms analyse DNA chips - miniature devices with thousands of different DNA sequences immobilised at different positions on the surface.
Sheffield regional Cytogenetics service are researching a range of microarray platofrms of a greater sensitivity than currently used by the service. Small chromosone changes and abnormalities – deletions, gains and amplifications of genetic material will be revealed through the use of this sensitive technology and thefore increase the number of diagnoses and enhance patient care. Their plan is to evaluate five differerent array platforms of varying cost and sensitivity and through a cost-benefit analysis. Our team hope to choose the right micro-array platform through the use of cost/benefit analysis.
The introduction of automated processes - to reduce lab time and enabling the department to handle a greater number of tests simultaneously .
The evaluation of chemical labelling processes – to reduce processing times by 10%
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