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.

The produce from the orchard funded his education as a Boarder at Melbourne Grammar School (where Richard Cotton went on to be appointed onto the Old Melburnians Council.

After leaving boarding school, Cotton studied Agricultural Science at the University of Melbourne, where he entered residence at Trinity College in 1959, and was a member of the 2nd VIII rowing crew.

Cotton began his career in the field of biochemical genetics with bacteria and the synthesis of amino acids, the building blocks of proteins, completing his PhD at the University of Melbourne in 1967.

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.

[10][11] Monoclonal antibodies are now regularly used in all aspects of medical research and clinical practice, and particularly in the treatment of cancer and rheumatoid arthritis and to prevent coagulation during coronary angioplasty.

Professor Cotton encouraged the development of "Mutation Detection" as a distinct field of endeavour in genetics, and has written extensively on the subject.

[19] The establishment of Human Mutation lead Cotton and his colleagues globally to begin efforts to unify the field and make the collection of genetic variation information systematic, standardized and complete across all genes.

Then in the early 2000s, closely following the widely acclaimed completion of the Human Genome Project, it became clear that a more active and more internationally focused effort was needed to enable the systematic collection, curation, interpretation and sharing of genetic variation information.

The delegates that attended the first meeting included the world's top geneticists, clinicians and bioinformaticians and representatives of the World Health Organisation (WHO), OECD, European Commission, United Nations Educational, Scientific and Cultural Organisation (UNESCO), March of Dimes, Centers for Disease Control and Prevention (CDCP), some two dozen international genetics bodies, and numerous genetics journals.

[23] If researchers, clinicians, genetic counsellors, and affected families have fast and reliable access to this type of knowledge, it has the ability to transform medicine by: Beyond benefits to individual patients, increased understanding of our genomes and their function enables governments to implement effective public health strategies and interventions.