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Richard CottonProfessor Cotton has had a long and distinguished career as both an innovative researcher and a driver of action towards preventing and treating genetic disorders and birth defects. As a 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 lead to often life-saving interventions and the prevention of further disease progression. He is a pioneer in the field of Mutation Detection, developing methods for the chemical and enzymatic detection of human genetic mutations. Professor Cotton was one of the first to recognise 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 to make information on genetic variations and their effect on patients freely and openly available, the Human Variome Project is enabling universal access to knowledge that can be used to prevent, diagnose and treat all human disease.

Early Career in Biochemistry

Richard Cotton began his career in the field of biochemical genetics of bacteria and the synthesis of amino acids – the building blocks of proteins. After his PhD at the University of Melbourne in 1967, he was a post-doctoral fellow at some of the best human genetics laboratories in the world: in Australia, at the John Curtin School of Medical Research at ANU; and overseas at the Scripps Clinic and Research Foundation in southern California, and the Laboratory of Molecular Biology at Cambridge University.

It was during his time in Cambridge that Richard conceived, planned and executed the fundamental experiment that proved when two immunoglobulin producing cells were fused, the immunoglobulin of both parental cells were produced in the hybrid. 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. Monoclonal antibodies are now regularly used in all aspects of medical research and clinical practice, particularly in the treatment of cancer and rheumatoid arthritis and to prevent coagulation during coronary angioplasty.

Following this discovery, Richard’s research focus shifted to the biochemical genetics of human disease and he began to focus on human genetic mutation—the damaging of our genetic material that causes inherited disease and cancer. Richard contributed greatly to identification of the genes for phenylketonuria (PKU) and its variants by conceiving, planning and executing myeloma studies, conceiving affinity adsorbents for PAH (phenylalanine hydroxylase, the enzyme deficient in PKU) & DHPR (di-hydro-folate reductase, also involved in PKU), as well as contributing to tests that are now applied worldwide to all newborns being screened for this disease. He also conceived the widely used tetrahydrobiopterin (BH4) load test to identify the serious genetic variants involved in PKU. This work has since been investigated as a potential treatment for heart disease.

He is also the inventor of the chemical cleavage and enzyme cleavage mutation detection methods, at this time the most accurate methods to detect DNA mutations. Professor Cotton encouraged the development of "Mutation Detection" as a distinct field of endeavour in genetics, and has written extensively on the subject.

In 1986, Richard Cotton, together with Dr David Danks, founded The Murdoch Institute (now the Murdoch Childrens Research Institute) at the Royal Children’s Hospital in Melbourne, bringing genetic research to Australia. Their vision for an independent genetic research institute has since grown from a handful of researchers to become a world-class centre of genetics research and clinical genetics services.

In 1991 Professor Cotton initiated the biennial Mutation Detection Conferences and Workshops. These events bring together the world’s leading scientists in the fields of mutation detection to exchange ideas and explore further ways of developing these technologies, as well as introduce these technologies and techniques to young scientists around the world.

The Human Variome Project—sharing data · reducing disease

In 1992, Richard Cotton founded the scientific journal Human Mutation, which has since grown to be a top 20 journal in the category of Genetics and Heredity. As he tells it, he founded the journal because he thought it was absurd that researchers and doctors had no place to report and check the severity of the mutations they found in their patients. The establishment of Human Mutation lead Professor Richard Cotton and colleagues to begin efforts to unify the field and make the collection of genetic variation information systematic, standardized and complete across all genes. In 1996, to further stimulate activity in this area, Professor Cotton established the Human Genome Organization Mutation Database Initiative which, in 2001, became the Human Genome Variation Society. In the early 2000s, closely following the completion of the Human Genome Project, it became clear that a more active and more internationally focused effort was required to enable the systematic collection, curation, interpretation and sharing of genetic variation information. From this realization, the Human Variome Project emerged.

The Human Variome Project was established in Melbourne, Australia in 2006. The delegates of that first meeting included the world’s top geneticists, clinicians and bioinformaticians and representatives of the World Health Organisation, OECD, European Commission, United Nations Educational, Scientific and Cultural Organisation, March of Dimes, Centers for Disease Control and Prevention, some two dozen international genetics bodies, and numerous genetics journals. Since then, the Human Variome Project has held a meeting of its Consortium every two years. The Consortium has a current membership of around 1000 individual clinicians, researchers, diagnostic laboratory professionals and bioinformaticians from 72 countries. Sixteen countries, including the United States, United Kingdom and Australia have established HVP Country Nodes to facilitate the free and open sharing of all genetic variation information discovered in these countries.

The Human Variome Project Consortium believes that the global knowledge capacity in medical genetics and genomics can be significantly improved if local knowledge is shared in a free and open manner to become global knowledge. 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:

  • enabling doctors to more rapidly diagnose and treat patients with rare genetic diseases;
  • allowing development of new diagnostic tests;
  • helping researchers develop new treatments for thousands of genetic diseases; and
  • assist in uncovering the causes of common diseases, such as breast cancer and asthma.

Beyond benefits to individual patients, increased understanding of our genomes and their function enables governments to implement effective public health strategies and interventions. A complete understanding of the genomic determinants of health will enable more effective public health strategies, including:

  • carrier detection programmes designed to identify potential parents who are at risk of conceiving a child with a genetic disorder;
  • pre-conception care provision, including detection of genetic risks through family history, addressing the issue of consanguinity, counselling of preventive strategies such as pre-implantation genetic diagnosis and pre-natal diagnosis;
  • routine pre-natal screening identify children with genetic disorders before birth;
  • provision of genetic reproductive services such as genetic counselling to assist parents in assessing treatment, reproductive and family planning options; and
  • new-born screening programmes to identify children with treatable genetic disorders shortly after birth but before symptoms appear.

The Human Variome Project Consortium is regularly called on to provide expert comment and advice on mutation documentation activities worldwide, including recently by the World Health Organisation. Professor Cotton’s activities have also recently attracted $300million over ten years from China towards the worldwide activities of the Human Variome Project. The importance of the Human Variome Project was recognised in 2011 by the United Nations Educational, Scientific and Cultural Organisation in the Project’s admittance to Official Partner status and Professor Cotton’s overall contribution is recognised by a DSc from the University of Melbourne and admittance as a Member of the Order of Australia. Professor Cotton’s dream is to minimise the suffering caused by inherited diseases, suffering that can only be acutely described by affected patients and their family members.


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