American Association for Clinical Chemistry
Better health through laboratory medicine
Robert Williamson, PhD
1989 AACC Lectureship Award

Robert Williamson is the recipient of this year’s AACC National Lectureship Award. This award is sponsored by Diagnostic Systems Division, Technicon Instruments Corporation.

Dr. Williamson was born in Ohio, brought up in New York and London, obtained his B.Sc. in chemistry and his Ph.D. in biochemistry from University College London, and was taught by Sir Christopher Ingold, J.B.S. Haldane, and Lionel Penrose. Disregarding all good advice, he entered molecular biology research, and his doctoral subject described research on globin mRNA, an unusual topic in 1963, when most British biochemists were studying intermediary metabolism. He took a lectureship at the University of Glasgow with John Paul and Norman Davidson, and studied the control of gene expression in mammalian chromatin. After spending 13 years in Glasgow, most of it in charge of molecular genetics at the Scottish Cancer Research Institute, he was appointed to the Chair in Biochemistry at St. Mary’s Hospital Medical School in 1976.

Professor Williamson’s group cloned the human globin genes in 1977, established the first DNA linkage for Duchenne muscular dystrophy in 1981, and began work on human chromosome linkage maps and on introducing the concept of “candidate genes” for human inherited diseases. He and his colleagues used DNA linkage, as well as a number of new cloning techniques, to study cystic fibrosis. He finds cystic fibrosis a particularly challenging problem, because it is relatively common and the very wide range of symptoms are baffling in the absence of knowledge of the basic defect.

In addition to diseases caused by mutations to single genes, he also is interested in true polygenetic diseases (such as early-onset coronary heart disease), where there are a defined number of loci that probably determine most of the pathology. Many other multifactorial diseases (such as cleft palate) have a genetic component in only a few families. In these cases Professor Williamson thinks that genetic studies could throw light on the environmental causes of the clinical problem.

Cystic fibrosis will pose the first major challenge to Britain (and to the United States) as to how to apply genetic screening to the whole population. Because of the invention of polymerase chain reaction and other techniques for gene amplification, the technical problems have (for the most part) been solved in an economical and simple way. The major problem is now community education—convincing ordinary people that genetics research will provide new, positive opportunities for ethical and constructive preventive medicine. Hence he is often seen on television explaining molecular biology in lay terms, and discussing the application of genetics to community health and preventive medicine.