Associate Professor of Diabetes
- NIHR Clinician Scientist
- Honorary Consultant Physician
Genetics of Type 2 Diabetes & Monogenic Diabetes
Diabetes arising in young adults has a wide range of underlying aetiologies. This includes genetic causes of beta-cell dysfunction (Maturity-onset diabetes of the young, MODY). We are investigating the characteristics of different subtypes of MODY and how to identify them from those with commoner causes of diabetes. Our research programme aims to implement systematic diagnostics for aetiology of diabetes into routine clinical care. At the moment we are investigating whether there are specific non-genetic biomarkers for MODY subtypes and have recently discovered that low levels of highly-sensitive C-reactive protein are a marker for HNF1A mutations.
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V. et al, (2019), Nat Genet, 51, 1191 - 1192
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Justice AE. et al, (2019), Nat Genet, 51, 452 - 469
Kavvoura FK. and Owen KR., (2019), Medicine (United Kingdom), 47, 16 - 21
Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult-Onset Nonautoimmune Diabetes.
Juszczak A. et al, (2019), Diabetes Care, 42, 17 - 26
Language matters. Addressing the use of language in the care of people with diabetes: position statement of the English Advisory Group.
Cooper A. et al, (2018), Diabet Med, 35, 1630 - 1634