Richard Cotton AM BAgSc., Ph.D, D.Sc.
Director: Genomic Disorders Research Centre President: Human Genome Variation Society & Co-Editor: Human Mutation Convenor: Human Variome Project
Genomic Disorders Research Centre
Genomic Disorders Research Centre Level 2,
161 Barry Street, Carlton South Vic 3053,
Melbourne, Australia

Email: cotton@unimelb.edu.au

Richard Cotton AM BAgSc., Ph.D, D.Sc. (Melbourne) initiated the Mutation Research Centre, now renamed the Genomic Disorders Research Centre, in January, 1996 (www.genomic.unimelb.edu.au). He has always been interested in the biochemical genetics of human disease and has recently focussed on mutation. Amongst his more notable scientific achievements are the conception, planning and execution of the fundamental experiment, which proved that when two immunoglobulin producing cells were fused, the immunoglobulin of both parental cells were produced in the hybrid. This laid the experimental and theoretical foundation for the widely used monoclonal antibody technique. He also conceived the widely used tetrohydrobiopterin (BH4) load test to identify the serious variants of PKU, but BH4 is currently being trialed in heart disease. He is particularly interested in improving mutation detection technologies to make them cheaper and simpler, so that they can be more widely applied, and holds several patents in the area. A recent development has been a method to detect DNA damaging compounds. He has written two books entitled "Mutation Detection", initiated the journal entitled "Human Mutation", and in 1991 initiated bi-yearly international workshops on Mutation Detection and in 1998 bi-yearly HUGO Mutation Detection Courses. In 1996 he has also started a worldwide initiative (The HUGO Mutation Detection Database Initiative, recently formed into the Human Genome Variation Society (HGVS) website: www.hgvs.org.) to capture and distribute lists of mutations. In June 2005, he was admitted as a Member of the Order of Australia for service to science through genetic research, particularly through the development of technologies to detect gene mutations that underlie birth defects or cause disease and through efforts to document findings. In June 2006, he convened a Meeting, co-sponsored by WHO, which initiated the Human Variome Project (www.humanvariomeproject.org). This project aims to collect world wide genetic variation and its associated phenotype. A HVP planning meeting was convened in May 2008 (www.humanvariomeproject.org/HVP2008/). He is Treasurer of the Human Genome Organisation (HUGO) and the author of over 200 scientific papers and 3 patents. He can be contacted at (Telephone) +61 3 9288 2980 and Fax +61 3 9288 2989 and Email cotton@unimelb.edu.au.