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Cambridge Institute for Medical Research


The genetic basis of intellectual disability

General audience summary:
Intellectual disability is present in 0.5% of the population. The effects are wide ranging, and affected individuals may have difficulty learning and developing skills for everyday life. Our research goal is to understand the genetic changes that are present in the DNA of these patients, in the hope of characterizing the causes of this disorder. We conduct detailed analysis of the whole DNA genome in affected families, and this has allowed us to identify novel genes that contribute to this disease. A vital new part of this is our participation in a collaborative UK initiative to analyse the genomes of 10,000 patients in unprecedented detail.

Strategic CIMR themes: Rare Genetic Diseases, Neurological Diseases

Funding: Cambridge NIHR Biomedical Research Centre, National Institute for Health Research, Medical Research Council

Emeritus Professor of Medical Genetics and Neurodevelopment

Contact Details
01223 762609
Not available for consultancy


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