Molecular Genetics of Metabolic and Endocrine Disorders

Research summary

Endocrine and metabolic disorders are common and may be caused by hormone excess, which may be associated with endocrine tumours, or hormone deficiency, that may be due to a congenital abnormality or autoimmune destruction of the gland. These disorders usually occur as non-familial (i.e. sporadic) disorders but they may also occur as part of complex familial syndromic diseases, which may be inherited as autosomal or X-linked traits. The biology of these endocrine and metabolic disorders is poorly understood, but the occurrence of hereditary forms in more than 10% of patients indicates the involvement of genetic abnormalities. The aim of this study is to identify the genetic abnormalities that cause endocrine and metabolic disorders, as this will help to: 1) identify new genetic causes of endocrine and metabolic disorders; 2) establish cellular models that will elucidate the roles of these genes and their encoded proteins in biochemical and physiological pathways; and 3) establish genotype-phenotype correlation and biomarkers for clinical utility.

Principal Investigator

Prof Rajesh Thakker

Contact us

Email: diabetes.research1@ouh.nhs.uk

IRAS number

207291