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Genetics

Led by Professor David Rubinzstein

Professor David Rubinzstein

...will develop programmes in renal genetic and tubular disorders, Huntington disease , and Type 1 diabetes to identify causal biomarkers of diseases, using genetics to direct experiments and interpret results in genotype-selected subjects and identify therapeutic targets that lie in causal pathways that could be used in monitoring of disease progression and in measurement of the response to therapeutics. The world-leading programme of type 1 diabetes genetics research, directed by Professor John Todd is identifying therapeutic targets and prognostic biomarkers for disease prevention, through the development and use of the Cambridge BioResource.
A comprehensive understanding of the molecular genetics of X-linked mental retardation will be translated into the provision of rapid and effective diagnostic testing for patients and their families. Underpinning the translational research will be essential technical developments in molecular genetics to encompass large and/or complex genes or groups of genes to improve diagnosis, evaluate DNA sequence variants to distinguish pathogenic from polymorphic sequence changes and resolve diagnostic uncertainty, and use array-CGH analysis providing resources for genotype-phenotype studies of submicroscopic copy number changes identified in clinical practice to exploit their translational research potential.

Addenbrooke's Departments (on this website)

East Anglian Medical Genetics Service

 

Cambridge University Departments

Medical Genetics in Cambridge

Specialist Institute/Unit

The Wellcome Trust Sanger Institute