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Image: Histology of human tissue, show epithelium tissue and serous gland with microscope view

Tackling the effects of metabolic and endocrine disease

Tackling the effects of metabolic and endocrine disease

Metabolic diseases are some of the biggest problems affecting human health. Although sometimes caused by rare genetic mutations and dysfunctional organ development, the burgeoning epidemic of obesity and diabetes is dependent primarily on lifestyle choices.

While people rarely die from the primary clinical signs, secondary complications such as atherosclerosis, non-alcoholic fatty liver disease and diabetic microvascular pathology, are major killers.

Overeating leads to weight gain, increased circulating levels of fatty acids and glucose, and a plethora of secondary effects, such as type 2 diabetes.

Hyperlipidaemia and increases in localised fat deposits can lead to the formation of vascular plaques and the increased incidence of heart attacks or strokes.

Hyperglycaemia leads to a number of microvascular and neural diseases, which lead to increased incidence of blindness, amputation and kidney failure.

Pioneering research

Problems with endocrine and digestive systems, including rare diseases affecting organ development, may have tractable genetic origins.

We are studying the development of key metabolic organs, including the pancreas, liver and gut. We are undertaking pioneering research from rare diseases, such as congenital hyperinsulinism, to very common ones linked closely to diet, such as irritable bowel syndrome.

Developmental factors

Fetal and early childhood growth patterns are related to cardiometabolic health in later life, with fetal growth restriction followed by rapid post-natal catch-up growth being an adverse pattern.

We work with our obstetric colleagues to characterise these early growth patterns and define the associated early life molecular and metabolic phenotypes that can set a child on a pathway to ill health.

Rare primordial genetic growth disorders that affect fetal and early life growth may also provide important insights into molecular mechanisms, and we use samples and cell lines from such patients to study the impact of monogenic disorders on these pathways.