Autoimmune endocrine diseases & subclinical hyperthyroidism
We are pursuing genomic approaches to the identification of disease alleles for Graves’ disease (autoimmune hyperthyroidism) and Addison’s disease (autoimmune adrenocortical failure). The recent award of €2.95M to a 10-member EU-consortium to study Addison’s disease (www.euradrenal.org) has allowed for the first time a substantial collection of patient material for genetic study in this rare condition. We have already confirmed association at the PTPN22 gene in this cohort and genome-scale investigations are ongoing, including of copy number variants, and should reveal a fuller picture to the susceptibility. Because of the dominant effect of genetic factors in this complex disease, it is possible that we will uncover novel susceptibility variants of relevance to several autoimmune conditions. We are also working on a series of regenerative medicine studies looking at preservation and restoration of adrenal gland function in individuals with newly diagnosed Addison’s disease (funded by the MRC Experimental Medicine Programme).
Subclinical thyroid diseases are common (affecting 5% of the population) and associated with a poor clinical outcome (an excess of morbidity and mortality) with both subclinical hyperthyroidism and subclinical hypothyroidism. These can be considered as states of ‘borderline’ thyroid underactivity or overactivity. In collaboration with clinical colleagues in primary care and Gateshead NHS Trust, we are pursuing an epidemiological study of individuals who were first studied in 1973 (the Whickham survey), which should give important information about the outcome of thyroid diseases over a lifetime. We are also examining National data from the General Practice Research database to look at how treatment affects morbidity and mortality in real practice. In addition, we are working with investigators from the Institute of Ageing and Health to perform outcome studies of thyroid disease in the very elderly (Newcastle 85+ study).
Rachel Soemedi
PhD student
Katie MacArthur
EU-FP7 funded technician
Anna Mitchell
Academic Clinical Fellow
Owen et al Supplementary tables
Owen et al Supplementary tables2
Owen et al Supplementary tables3