Institute of Genetic Medicine

Endocrine & Renal Genetics

Endocrine and Renal Genetics

We seek to understand molecular genetics behind acute and chronic renal and endocrine disorders.

Our researchers have made pioneering discoveries of genes and genetic pathways associated with:

  • hemolytic uremic syndrome
  • cystic kidney disease
  • nephrotic syndrome
  • Wilms’ tumour

These disorders affect more than one in 1,000 children. Current work includes developing disease models and probing underlying genetic mechanisms.

Ageing population

We focus on genetics of diseases that represent an increasing challenge to the ageing population. The incidence of chronic renal disease is rising.

Up to 10% of the population have chronic kidney disease and the incidence of kidney failure is rising by 5% per year.

Currently chronic kidney disease alone accounts for 3% of the total NHS budget.

Thyroid disease

Similarly, 3% of the UK population take levothyroxine as thyroid replacement. Up to 10% of the population have mild or subclinical thyroid disease.

The cost to the NHS of medicines prescribed for endocrine disorders ranks third.

We have identified several susceptibility alleles for thyroid overactivity (Graves’ disease). We currently run a clinical trial of novel immunotherapy for thyroid eye disease.

Adrenal gland failure

We take the lead in a European consortium identifying novel genes for adrenal gland failure (Addison’s disease). We have an active programme of regenerative medicine studies in this condition.

We seek improved understanding of pathophysiology. We use pragmatic clinical trials.

This should lead to new therapeutic strategies to improve patient outcome. Then we can reduce the burden of these conditions on the NHS.

Our research is world-leading in endocrine and renal genetics.

Key researchers

Endocrine genetics

Dr Tim Cheetham - paediatric endocrinology
Professor Simon Pearce - autoimmune endocrine disease and subclinical hyperthyroidism
Dr Richard Quinton - idiopathic hypogonadotrophic hypogonadism

Renal genetics

Professor Tim Goodship - genetics of atypical haemolytic uraemic syndrome and vesicoureteric reflux
Professor David Kavanagh - genetic renal disease
Dr Colin Miles - the Wilms’ Tumour 1 gene in development and disease
Professor John Sayer - molecular genetics of the cystic kidney disease nephronophthisis