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Introduction to Genetics

NIHR CLAHRC funding for Genetics will address four issues that have immediate healthcare benefits by enabling self management of lifestyle choices. The first project aims to to extend community-based biochemical screening of newborns by the addition of a further five conditions. Inherited metabolic disorders can lead to chronic disability. Early detection can dramatically improve outcome and quality of life, and help inform the parents for future reproductive choices. The project is designed to test 430,000 babies in a 12 month evaluation study designed to inform national policy.

Around 6000 people in the UK have Huntington Disease (HD), but their families and carers are also affected. There is currently no treatment available to alter the natural history of the condition, although symptomatic treatment is available. NIHR funding will support faster recruitment of patients to clinical trials by taking part in the Europe-wide HD REGISTRY project.

The Sheffield Regional Cytogenetics Service will use NIHR CLAHRC funding to investigate microarray platforms that offer greater sensitivity than is currently available to them, and to increase their testing throughput. The increase will increase diagnostic capabilities and enhance patient care and reproductive advice that is already provided.

Rapid SNP Analysis will be improved using NIHR CLAHRC funding. Identification of children with a genetic predisposition to bone fracture will help prevent future fractures and potential legal action against carers. Rapid SNP analysis will also be used to investigate individual's responses to drug treatment, for instance in childhood acute lymphoblastic leukaemia (ALL).

For more information please contact Professor Jim Bonham, Theme Lead, Sheffield Children's (NHS) Foundation Trust, in the first instance.

Genetics theme team: Professor Anne Goodeve

Expanded Newborn Screening: Professor Jim Bonham

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National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care for South Yorkshire (CLAHRC SY) acknowledges funding from the National Institute for Health Research (NIHR). The views and opinions expressed are those of the authors, and not necessarily those of the NHS, the NIHR or the Department of Health.

CLAHRC SY would also like to acknowledge the participation and resources of our partner organisations. Further details can be found here

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