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Richard Gibbons

Professor of Clinical Genetics

  • Consultant Physician

Chromatin remodelling factors in human genetic disease. The principal aim of the group is to characterise the ATRX protein which when mutated gives rise to a severe X-linked form of syndromal mental retardation, one feature of which is alpha thalassaemia. More recently, we have shown that somatic mutations in this gene give rise to an acquired form of alpha thalassaemia associated with myelodysplasia. We run a clinical and molecular diagnostic service through which we have collected over 100 affected families. We identify the underlying mutations and through microarray gene expression analysis, methylation studies, enzyme assays and protein structure studies we are defining their functional consequences.

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Recent Publications

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