Robert Williamson is a molecular geneticist who first worked on haemoglobin synthesis in reticulocytes, and then studied thalassaemias. His group cloned the human alpha, beta and gamma globin genes from cDNAs, and used them to deduce the genomic structures. He and his colleagues subsequently pioneered the use of anonymous gene markers to position, then attempt to identify, genes that are mutated to cause cystic fibrosis, myotonic dystrophy, ataxias, coronary artery disease, craniofacial abnormalities, and dementia, for which he was awarded the 1994 King Faisal International Prize for Medicine.

He used genetic approaches to study the feasibility of carrier testing for cystic fibrosis in the community, developed noninvasive methods of diagnosing diseases during foetal development in early pregnancy, and assisted many groups in developing countries to apply these techniques.

More recently, Robert has exerted a major influence on science policy and medical and scientific ethics in Australia. He is an Officer of the Order of Australia, and was, until recently, the Secretary for Science Policy of the Australian Academy of Science.