Citation | Distinguished for his contributions to human molecular genetics. These included the first cloning of genes relevant to human inherited disease (human globin genes) and the first use of restriction fragment lengthy polymorphisms in prenatal diagnosis (thalassaemia). He developed a team which made important initial contributions to understanding the gene defects in Duchenne muscular dystrophy, myotonic dystrophy, cystic fibrosis and Friedreich's ataxia. He has contributed also to important advances in the methodology of prenatal genetic diagnoses and the analysis of human multi-factorial defects. A special contribution has been in stimulating younger scientists to make new approaches to human molecular genetics, producing major results of practical significance on diverse diseases, which owe a great deal to his foresight, organisation and inspiration. |