Molecular Basis of Childhood Diseases

Theme Lead: Professor Phil Beales

The close synergy between basic laboratory science and clinical investigation at Great Ormond Street Hospital (GOSH) and the UCL Institute of Child Health (ICH) is vital in our understanding the molecular basis of childhood disease.

This concept is fundamental to our research which covers a broad research remit across experimental medicine, including:

• The molecular basis of birth defects
• Renal tract development and disease in childhood
• The molecular basis of pituitary development and disease
• Novel mechanisms in adrenal and reproductive biology
• Childhood origins of adult cardiovascular disease

In 2010 the Biomedical Research Centre funded the development of the GOSgene Centre for Genetic Diseases which facilitates rapid gene identification in uncharacterised genetic diseases.

GOSgene works to reveal causative genetic mutations in affected individuals to help improve diagnostic testing, genetic counselling, family planning options and prenatal service development.