| Citation | Professor Higgs is distinguished for his work on human haemoglobin genetics and is the leading world authority on the human alpha globin genes. Initially, his team systematically dissected the many different mutations that underlie the alpha thalassaemias and described many of the most important of these lesions. While doing so they defined several mechanisms that underlie human gene deletions, and were able to delineate the main regulatory regions in the alpha globin gene cluster, including a `master' sequence which controls the whole region, situated 40 kb upstream from the alpha globin genes. In combining these studies with population surveys they were able to describe the remarkably high frequency and heterogeneity of the alpha thalassaemias globally. His group have also clarified the syndrome of alpha thalassaemia and mental retardation, work which led to the discovery of the importance of small, subtelomeric deletions as a cause of mental retardation and developmental abnormalities. They also described the X linked form of this syndrome and discovered the gene, XH2, which is involved, thus opening up a new approach to studying the genetics of congenital malformation. Recently Higgs's group have instigated a collaborative study to sequence the telomeric region of chromosome 16 and already have provided seminal information about the organisation of subtelomeric regions of human chromosomes. Overall, Higgs's work has led to an understanding of how the human alpha globin gene clusters are regulated and how this breaks down in a variety of disease states. In all his work he has been able to utilise natural mutations to describe how human genes are organised and regulated, and how this is related to their higher order structure. |