Robert Williamson (geneticist)

Since his retirement in 2004, Williamson has been the Secretary for Science Policy at the Australian Academy of Science and an Honorary Senior Principal Fellow (Professor) at the University of Melbourne.

In 2004, he was appointed an Officer of the Order of Australia (AO).

He was elected to the Royal Society in 1999. He is also a Fellow of the Royal College of Physicians, the Royal College of Pathologists and the Australian Academy of Science (2001).

In 1997, he received an Honorary MD degree from the University of Turku, Finland.

He emigrated to Melbourne, Australia in 1995 to be Director of the Murdoch Children's Research Institute (then the Murdoch Institute) and Professor of Medical Genetics at the University of Melbourne. He edited several books on genetic engineering and on the ethics of the new genetic sciences.

In 1995, Williamson moved from London to Melbourne, Australia, to become Director of the Murdoch Children's Research Institute, taking over from David Danks, a clinical geneticist who had trained with Victor A. McKusick. Williamson directed a broad research portfolio on a range of molecular genetics technologies, such as preimplantation genetic diagnosis used in conjunction with in vitro fertilisation and Friedreich's ataxia He established training for genetic counsellors and public health paediatricians and continued working at the interface of ethics genetics, with a particular interest in Aboriginal genomics. Williamson successfully broadened the orientation of the Murdoch Institute, growing it to some 600 staff by the time he retired in 2005, pursuing research on ethics, public health, and genetics of complex diseases.

In 1994, he was awarded the King Faisal International Prize in Medicine, together with W. French Anderson, for medical applications of molecular genetics.

Williamson was an early proponent of human gene therapy, writing presciently in 1982: "Gene therapy is not yet possible, but may become feasible soon, particularly for well understood gene defects. Although treatment of a patient raises no ethical problems once it can be done well, changing the genes of an early embryo is more difficult, controversial and unlikely to be required clinically." Following the discovery of the CF gene in 1989, he turned his attention to developing strategies for gene therapy for CF patients in his final years at St. Mary's, including a non-viral proof-of-concept study in the inaugural issue of Nature Medicine.

By 1980, Williamson and colleagues began applying the discovery of DNA markers called restriction fragment length polymorphisms to perform linkage mapping to locate the position of important human disease genes. In 1982, working with Kay Davies, Williamson's group narrowed down the location of the X-linked Duchenne muscular dystrophy gene. Williamson is best known for his research on the genetics of cystic fibrosis. In 1985, Williamson lead one of three teams that independently mapped the gene mutated in cystic fibrosis to chromosome 7, sparking an intense international race to identify the gene. His group came close to isolating the defective gene, reporting a strong candidate in 1987, only to be scooped by Lap-Chee Tsui, Francis Collins and colleagues in 1989.

Throughout the 1980s, Williamson and colleagues pursued the use of random DNA markers to map mutated genes responsible for several other major genetic disorders, including myotonic dystrophy, Friedreich's ataxias, coronary artery disease, craniofacial abnormalities, and Alzheimer's disease. In 1988, Williamson's group also developed the first method for genetic testing using cheek buccal epithelial cells obtained by a simple mouthwash. In 1991, John Hardy, a lecturer in Williamson's department, identified the first mutation associated with Alzheimer's disease in the gene encoding the amyloid precursor protein (APP).

Williamson chose not to follow up on those results, turning his attention to messenger RNA and then the study of globin genes and the thalassaemias. In 1974, Williamson's group demonstrated that severe alpha-thalassaemia is due to a deletion in the alpha globin gene, and subsequently that delta-beta thalassaemia was attributed to a deletion in the beta globin gene. From his new position at St. Mary's Hospital Medical School, Williamson's group went on to clone the human alpha-, beta- and gamma-globin genes from cDNAs, and used them to deduce their genomic structures.

Williamson began his career working on haemoglobin synthesis in reticulocytes (immature red blood cells) and thalassaemias (inherited blood disorders). As a lecturer at the University of Glasgow, he studied human gene organisation and expression. In 1970, he was the solo author of a paper that provided the dual discovery of the origin of cell-free DNA and the nucleosome organisation of DNA in chromosomes, including the first description of the "nucleosome ladder". Decades later, the geneticists Steven Henikoff and George Church hailed Williamson's report as “a remarkably prescient paper,” adding: “The simultaneous discovery of the nucleosome ladder and the origin of [cell-free] cfDNA in 1970 was thus correctly interpreted by Williamson, respectively 3 years and nearly 3 decades before the biological significance of nucleosomes and the clinical utility of cfDNA were appreciated.”

Williamson was born in Cleveland, Ohio, to Scottish parents. He was educated at the Bronx High School of Science in New York and then Wandsworth School in South London after his parents returned to the UK, before studying at University College London. From 1963 he was lecturer, then senior lecturer, in developmental biology at the University of Glasgow. From 1976 he was Professor and head of Molecular Genetics and Biochemistry at St Mary's Hospital Medical School, University of London.

Robert Williamson AO FAA (born 1938) is a retired British-Australian molecular biologist who specialised in the mapping, gene identification, and diagnosis of human genetic disorders.