Fellow

Professor Marcus Pembrey is Professor of Paediatric Genetics at the Institute of Child Health, Great Ormond Street. Professor Pembrey has made important contributions to our understanding of a wide range of important human genetic disorders. In order to explain the unusual pattern of inheritance of Fragile X Syndrome he proposed a dynamic two-stage mechanism in which an asymptomatic premutation progresses to a full mutation and overt disease. Somewhat heretical at the time, this proved a largely correct prediction of what is now a whole class of unstable triplet repeat diseases. He has made equally important contributions to our knowledge of the maternally-imprinted disease, Angelman syndrome.