Robert Williamson

Robert Williamson was born on 14 May 1938 in Cleveland, Ohio, in the United States, to Scottish parents. He was educated at the Bronx High School of Science in New York until his parents returned to the United Kingdom when he was 16, and he then attended Wandsworth School in south London. He went on to University College London, where he completed a PhD in biochemistry in 1963.

From 1963 Williamson was a lecturer and then senior lecturer in developmental biology at the University of Glasgow. His early research focused on haemoglobin synthesis in immature red blood cells and on the thalassaemias. In 1970 he was the sole author of a paper that described both 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 called it a remarkably prescient paper, noting that the significance of both findings was not appreciated until years afterwards.

Turning to messenger RNA and the globin genes, his group showed in 1974 that the severe form of alpha thalassaemia is caused by a deletion in the alpha globin gene, and later that delta beta thalassaemia is caused by a deletion in the beta globin gene. In 1976 he became professor and head of molecular genetics and biochemistry at St Mary's Hospital Medical School, University of London. There his group cloned the human alpha, beta and gamma globin genes and, from around 1980, used restriction fragment length polymorphisms to map the positions of disease genes.

In 1982, working with Kay Davies, his group narrowed down the location of the Duchenne muscular dystrophy gene on the X chromosome. In 1985 his team was one of three that independently mapped the cystic fibrosis gene to chromosome 7, and in 1987 it reported a strong candidate gene before Lap-Chee Tsui, Francis Collins and colleagues identified the gene in 1989. His laboratory also mapped genes involved in myotonic dystrophy, Friedreich's ataxia and other conditions, and in 1988 developed the first method of genetic testing using cheek cells collected with a simple mouthwash. An early advocate of gene therapy, he later led work on gene therapy for cystic fibrosis, including a proof of concept study in the first issue of Nature Medicine in 1995.

In April 1995 he moved to Melbourne to become the second director of the Murdoch Institute, now the Murdoch Children's Research Institute, succeeding David Danks, and professor of medical genetics at the University of Melbourne. He led the institute through its merger with the Royal Children's Hospital Research Institute in 2000, became executive director of the Victorian Clinical Genetics Services, chaired Genetic Health Services Victoria and broadened research into ethics, public health, preimplantation genetic diagnosis, Friedreich's ataxia and the genetics of complex diseases, growing the institute to around 600 staff. He also established training for genetic counsellors and public health paediatricians and wrote on Indigenous genomics and the ethics of genetic testing. He published more than 560 scientific papers and book chapters.

After retiring in 2004, when he was succeeded by Terry Dwyer, he was Secretary for Science Policy at the Australian Academy of Science from 2009 to 2013, chaired the board of Stem Cells Australia from 2018 to 2019 and remained an honorary professor at the University of Melbourne. He was a finalist for the Eureka Prize for Outstanding Mentor of Young Researchers in 2013.

Williamson's first marriage, to Pat Sutherland, produced two children, Cathie and Paul. He later married Professor Robyn O'Hehir, and they had two children, Annie and Nick. He had five grandchildren, and the Murdoch Children's Research Institute said he regarded his family as his greatest legacy. Colleagues remembered his wisdom, humour and generosity, and he was a committed mentor and champion of women in science, serving on the National Health and Medical Research Council's Women in Health Science Working Committee.

Bob Williamson died in Melbourne on 10 October 2026, aged 88. The cause of death was not made public. His death was announced by the Murdoch Children's Research Institute on 14 October 2026 in a tribute describing him as a great scientist, mentor, visionary and leader in health and medical research.

Only days earlier, on 6 October 2026, he had attended the institute's David Danks Leaders in Science seminar marking its 40th anniversary, where a video interview about his research and leadership was the highlight of the afternoon. His family invited donations to the institute in lieu of flowers.

Williamson was part of the generation that brought molecular biology into medicine. His work on the globin genes, Duchenne muscular dystrophy and cystic fibrosis helped establish the methods used to find disease genes before the Human Genome Project, and his 1970 paper anticipated the later clinical use of cell-free DNA in prenatal and cancer testing. Many of the scientists he trained at St Mary's became leaders of the field, and at the Murdoch Children's Research Institute he laid foundations for its later work in genomics, stem cell medicine and population health. His honours included the King Faisal International Prize in Medicine (1994, shared with W. French Anderson), an honorary MD from the University of Turku (1997), Fellowship of the Royal Society (1999), the Australian Academy of Science (2001) and the Academy of Medical Sciences (2002), and appointment as an Officer of the Order of Australia (2004).