Using genomic information in the diagnosis of young adults with diabetes
Project leader: Dr Fainia Kavvoura, NIHR Clinical Lecturer
Differential diagnosis of young adult-onset diabetes is often very challenging because different types of diabetes are prevalent in this age group. Getting the diagnosis right has significant implications including optimal management for patients from early on with a view to minimising the risk of complications in the future. Different treatments for diabetes exist. However, misclassification of diabetes and unnecessary use of insulin, for example, can adversely affect patients. The available diagnostic tools in this effort include the use of clinical characteristics along with biomarkers, but a number of cases do not fit any of the classical diagnostic criteria and are labelled as atypical. Their management is often a challenge and is dictated by the progression of their diabetes.
Over the last years, with the advent of Genome-Wide Association Studies (GWAS), more than 120 genetic variants have been implicated in the predisposition to Type 1 and Type 2 diabetes. Fainia’s research project is looking into how the available genomic information can be used in the differential diagnosis of young adult-onset diabetes and whether it can be added to existing tools. In order to achieve this, she is currently using available bio-resources within Prof McCarthy’s and Prof Owen’s groups, in the Oxford Centre for Diabetes, Endocrinology & Metabolism (OCDEM). Fainia is also particularly interested in studying atypical cases of diabetes and examining whether genetics can assist in deciphering the aetiology behind these cases and potentially optimise their management.