Newcastle University

Qualifications

PhD, ‘Epidemiology of Mitochondrial Point Mutations’, Newcastle University, 2007

MRes, Biomolecular Sciences, Newcastle University, 2004

BSc(Hons), Biomedical Science, Durham University, 2003

Memberships

Diabetes UK

My primary research interest is aimed at understanding the role of DNA methylation in disease risk. My research uses a number of complementary methods including genome-wide methylation arrays and high throughput quantitative methods (Pyrosequencing and Sequenom EpiTYPER). Research is complemented by bioinformatic and statistical analysis.

Current research activities are:

A program of epigenetic research in the Avon Longitudinal Study of Parents and Children

This research activity focuses on the identification and validation of epigenetic variation within the ALSPAC cohort. Specific aims include investigation of longitudinal changes in DNA methylation and the use of peripheral blood lymphocyte DNA in the cohort

Epigenetic variation in insulin sensitivity, type 2 diabetes and ethnicity

People of Indian Asian descent are more likely to develop type 2 diabetes than the general population. This research compares DNA methylation signatures of European and Indian individuals in genes identified from genome-wide association studies. It also investigates SNP variation and its effect on local methylation.

The role of DNA methylation in mitochondrial disorders

Leber’s Hereditary Optic Neuropathy (LHON) is a common mitochondrial disorder characterised by loss of central vision. Not all mutation carriers develop the disease and the reasons for this are unclear, although smoking has been identified as one precipitant.  This research involves measuring DNA methylation of the nuclear and mitochondrial genome to identify and explore differences between those with LHON phenotype and unaffected carriers.

• Swingler TE, Crowe N, Sorefan K, Le L, Wheeler G, Carmont V, Elliott HR, Barter MJ, Abu-Elmagd M, Donell ST, Boot-Handford RP, Hajihosseini MK, Munsterberg A, Dalmay T, Young DA, Clark IM. Identification and characterisation of micrornas involved in chondrocyte differentiation and osteoarthritis. In: World Congress on Osteoarthritis. 2012, Barcelona, Spain: Elsevier Ltd.
• Kent L, Gallagher L, Elliott HR, Mowbray C, Chinnery PF. An investigation of mitochondrial haplogroups in autism. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics 2008, 147B(6), 987-989.