About Richard Cotton (geneticist)
Richard Cotton AM (10 November 1940 – 14 June 2015) was an Australian medical researcher and founder of the Murdoch Institute and the Human Variome Project. Cotton focused on the prevention and treatment of genetic disorders and birth defects. As a genetic researcher, he was instrumental in the development of techniques to produce monoclonal antibodies, and his diagnostic techniques and research into diseases such as Phenylketonuria have been fundamental to the early detection of affected individuals which has often lead to life-saving interventions and the prevention of further disease progression. He was a pioneer in the field of Mutation Detection, developing methods for the chemical and enzymatic detection of human genetic mutations. Cotton was one of the first to recognize the need to document the extent of all human genetic variation in order to investigate, treat and prevent human disease. As the Founder and Scientific Director of the Human Variome Project, he has led the world in developing ways to collect, curate, interpret and share information on the genetic changes that underlie both inherited and complex disease. By working with clinicians, diagnostic labs and national governments around the world to make information on genetic variations and their effect on patients freely and openly available, the Human Variome Project enables universal access to knowledge that can be used to prevent, diagnose and treat all human disease. This laid the practical and theoretical foundation for the now widely used monoclonal antibody technique for which César Milstein was awarded the Nobel Prize for Physiology or Medicine in 1984. In 1992, Professor Cotton founded the scientific journal Human Mutation, which is now a top 20 Genetics and Heredity Journal globally.
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