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.
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