AND THE SIR JULES THORN AWARD FOR BIOMEDICAL RESEARCH 2012 GOES TO...
Newcastle University for the project "Bringing next generation sequencing to the next generation: early diagnosis of inherited immune deficiency".
Dr Sophie Hambleton, Clinical Senior Lecturer, Paediatric Immunology & Infectious Diseases and her co-applicants will focus on improving the rate of molecular diagnosis in children born with a faulty immune system, where pinpointing the gene responsible can help predict problems and aid selection of the correct treatment. A grant of up to £1,495,990 over a period of up to 5 years, will fund pre-clinical investigations into a new DNA sequencing method involving a cohort of 200 children to develop and test methods of identifying relevant genetic changes and comparing the new methods with current standard investigations. The aim is to test how strongly newly identified mutations link to disease within the family and the wider population. Once a linked genetic change is confirmed the relationship can be fed back to the clinical team to inform/improve patient care.
The Trustees and members of the Medical Advisory Committee were impressed by the potential for the results of this study to be translated into tangible improvements for patients within a realistic time period. The Trust wishes Dr Hambleton and her team every success in their endeavours and looks forward to reporting successful outcomes from the project.