Richard Cotton (geneticist)

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Richard Cotton AM
Richard Cotton.jpg
Professor Richard Cotton
Richard Graham Hay Cotton

(1940-11-10)10 November 1940
Wangaratta, Australia
Died14 June 2015(2015-06-14) (aged 74)
Melbourne, Australia
Alma mater
Known for
Elizabeth Cotton(m. 1967)
  • Caroline (b. 1974)
  • James (b. 1975)
  • Michael (b. 1979)
Awards Order of Australia (2005)
Scientific career

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. [1] [2] [3] 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. [4] 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.

Early life

Cotton was raised at Kelwhr, a farm at South Wangaratta, Victoria, Australia which was predominantly a citrus grove, [5] with cattle as well. 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. [6] Cotton has donated part of his farm to Trust for Nature, to ensure the land is preserved in its natural state for future generations. Cotton was also a trustee of the Trust for Nature organisation. [7] Whilst on the Board of Trustees, Cotton launched an initiative with the Rural City of Wangaratta's in partnership with Trust for Nature to encourage land owners to undertake permanent protection of remnants of land abutting the Warby Ranges and to ensure their management of these remnants of land is consistent with advice provided by the relevant Trust for Nature Regional Manager. He also remains a foundation supporter of the Glenrowan Football Club.


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. [8] The later years of the course were conducted at the Dookie campus, Victoria's oldest and Australia's second oldest agricultural college. [9]

After graduating BAgrSc in 1963, it was assumed he would head back to assist on the family farm, but he was encouraged to undertake further studies at the University of Melbourne. 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. He was a postdoctoral fellow at some of the leading human genetics laboratories in the world, first at the John Curtin School of Medical Research at the Australian National University in Canberra, and then overseas at the Scripps Clinic and Research Foundation in southern California, and the Laboratory of Molecular Biology at the University of Cambridge. He graduated DSc from the University of Melbourne in 1983.


Nobel Prize & Discovery that formed foundation of Cancer Treatment Drugs

It was during his time in Cambridge that Cotton 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. [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. All cancer drugs on the market today with AB in the name are a direct result of Professor Cotton's work. These include Rituximab (trade names Rituxan, MabThera and Zytux).

TedX Talk by Professor Richard Cotton

Professor Cotton was invited to talk at TedX Sydney in 2011 on the Human Variome Project. The Talk can be viewed on the TedX Website at [12]

Human Genetic Mutations & PKU

Following this discovery, Richard's research focus shifted to the biochemical genetics of human disease and he focused on human genetic mutations, which is 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. [13]

Murdoch Children's Research Institute (Founder)

In 1986, Professor Richard Cotton, together with Dr David Danks, founded The Murdoch Institute (now named the Murdoch Children's Research Institute) at the Royal Children's Hospital in Melbourne, which brought genetic research to Australia. [14] 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. [15] [16]

Cleavage: Chemical & Enzymes Mutation Detection Methods (Inventor)

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. [17]

Human Mutation Journal (Founder)

In 1992, Professor Cotton founded the scientific journal Human Mutation, which is now a top 20 Genetics and Heredity Journal globally. As he recalls, 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. [18] 25 Years after it was founded, an edition was dedicated to the life of Professor Cotton in the article titled "Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton". [19]

The Human Variome Project (Founder)

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. In 1996, to further stimulate activity in this area, Cotton originally set up the Human Genome Organization Mutation Database Initiative. In 2001 this became the Human Genome Variation Society. 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. [20] From this realization, Cotton founded and launched the Human Variome Project. [21]

The Human Variome Project was established in Melbourne, Australia, in 2006. 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. > [22]

Benefits of the Human Variome Project

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. [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:

  • 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.

Awards, Honors & Recognition

Order of Australia

The importance of the Professor Richard Cotton's contribution to Human Genetics was recognised in 2005 by him being 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. [24]

UNESCO & WHO Endorsements

The importance of the Human Variome Project was recognised in 2011 by the United Nations Educational, Scientific and Cultural Organisation (UNESCO) in the Project's admittance to Official Partner status. [25]

Selywn Smith Medical Research Prize 1991

Richard Cotton was awarded the Selwyn-Smith Medical Research Prize in 1991 for his entry based on DNA probes, Mutation (Biology) and RNA [26]

Richard G. H. Cotton Memorial Fund

The Richard G.H. Cotton Memorial Fund was established to support the ongoing work of the Human Variome Project, in memory of him as the Founding Patron. Further details can be found at

Old Melburnians Dick Cotton Fellowship

The Old Melburnians Dick Cotton Fellowship was established by the Old Melburnians Council to honour his memory, with the Fellowship being awarded to a young Old Melburnian who demonstrates Dick's values, commitment, concern for the underdog, enthusiasm for life and desire to make a real difference. Further details can be found at

Related Research Articles

Phenylketonuria amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight.

Genetic testing Medical test

Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.

Human variability, or human variation, is the range of possible values for any characteristic, physical or mental, of human beings.

Single-nucleotide polymorphism Single nucleotide position in genomic DNA at which different sequence alternatives exist

A single-nucleotide polymorphism is a substitution of a single nucleotide that occurs at a specific position in the genome, where each variation is present at a level of 0.5% from person to person in the population.

Pleiotropy Influence of a single gene on multiple phenotypic traits

Pleiotropy occurs when one gene influences two or more seemingly unrelated phenotypic traits. Such a gene that exhibits multiple phenotypic expression is called a pleiotropic gene. Mutation in a pleiotropic gene may have an effect on several traits simultaneously, due to the gene coding for a product used by a myriad of cells or different targets that have the same signaling function.

Genetics, a discipline of biology, is the science of heredity and variation in living organisms.

Wellcome Sanger Institute British genomics research institute

The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust.

Medical genetics medical specialty that involves the diagnosis and management of hereditary disorders

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

The variome is the whole set of genetic variations found in populations of species that have gone through a relatively short evolution change. For example, among humans, about 1 in every 1,200 nucleotide bases differ. However, as the human species diverged only 10,000 years ago, this variation rate is comparatively small. In practice, the variome can be the sum of the single nucleotide polymorphisms (SNPs) of the population. The Human Variome Project seeks to compile this genetic variation data worldwide. Variomics is the study of variome and a branch of bioinformatics.

Human Variome Project

The Human Variome Project (HVP) is the global initiative to collect and curate all human genetic variation affecting human health. Its mission is to improve health outcomes by facilitating the unification of data on human genetic variation and its impact on human health.

Public health genomics is the use of genomics information to benefit public health. This is visualized as more effective preventive care and disease treatments with better specificity, tailored to the genetic makeup of each patient. According to the Centers for Disease Control and Prevention (U.S.), Public Health genomics is an emerging field of study that assesses the impact of genes and their interaction with behavior, diet and the environment on the population's health.

Centre for Arab Genomic Studies organization

The Centre for Arab Genomic Studies (CAGS) is a not-for-profit study centre aimed at the characterization and prevention of genetic disorders in the Arab World. The Centre is closely associated with the Sheikh Hamdan Award for Medical Sciences. One of the major projects of CAGS is the Catalogue for Transmission Genetics in Arabs (CTGA), an online, freely accessible database of genetic disorders reported from the Arab World. CAGS has been involved in the Human Variome Project as a representative of the Arab region and has been one of the first organizations to take an active lead in working on the project. CAGS organizes the Pan Arab Human Genetics Conference every alternate year, to provide a platform for discussion and education on genetic issues in the region.

1000 Genomes Project international research effort

The 1000 Genomes Project, launched in January 2008, was an international research effort to establish by far the most detailed catalogue of human genetic variation. Scientists planned to sequence the genomes of at least one thousand anonymous participants from a number of different ethnic groups within the following three years, using newly developed technologies which were faster and less expensive. In 2010, the project finished its pilot phase, which was described in detail in a publication in the journal Nature. In 2012, the sequencing of 1092 genomes was announced in a Nature publication. In 2015, two papers in Nature reported results and the completion of the project and opportunities for future research. Many rare variations, restricted to closely related groups, were identified, and eight structural-variation classes were analyzed.

Stephen W. Scherer Canadian scientist

Stephen Wayne "Steve" Scherer is a Canadian scientist who studies genetic variation in human disease. He obtained his PhD at the University of Toronto under Professor Lap-chee Tsui. Together they founded Canada's first human genome centre, the Centre for Applied Genomics (TCAG) at the Hospital for Sick Children. He continues to serve as director of TCAG, and is also director of the McLaughlin Centre at the University of Toronto Faculty of Medicine.

The term microattribution is defined as "giving database accessions the same citation conventions and indices that journal articles currently enjoy". In the sense that the purpose of precise attribution is to extend the scholarly convention of giving citation credit, the provenance of a piece of scholarship is recognized to give credit and priority to a preceding author. Microattribution is thus defined as "a scholarly contribution smaller than a journal article being ascribed to a particular author" or a small scholarly contribution being ascribed to a particular author. Of course, since data accessions can describe contributions that can vastly exceed research articles in size and quality, quantum attribution or precise citation might be better terms. Barend Mons and Jan Velterop proposed nanopublications for single, attributable and machine-readable assertions in scientific literature.

Philip Awadalla is a professor of medical and population genetics at the Ontario Institute for Cancer Research, and the Department of Molecular Genetics, Faculty of Medicine, University of Toronto. He is the National Scientific Director of the Canadian Partnership for Tomorrow Project (CPTP) and Executive Director of the Ontario Health Study. He is also the Executive Scientific Director of the Genome Canada Genome Technology Platform, the Canadian Data Integration Centre. Professor Awadalla was the Executive Scientific Director of the CARTaGENE biobank, a regional cohort member of the CPTP, from 2009 to 2015, and is currently a scientific advisor for this and other scientific and industry platforms. At the OICR, he is Director of Computational Biology.

David Benjamin Goldstein is an American human geneticist. Goldstein is founding Director of the Institute for Genomic Medicine at the Columbia University Medical Center, Professor of Genetics and Development and directs the genomics core of Epi4K and administrative cores of Epi4K with Dan Lowenstein and Sam Berkovic.

A human disease modifier gene is a modifier gene that alters expression of a human gene at another locus that in turn causes a genetic disease. Whereas medical genetics has tended to distinguish between monogenic traits, governed by simple, Mendelian inheritance, and quantitative traits, with cumulative, multifactorial causes, increasing evidence suggests that human diseases exist on a continuous spectrum between the two.

{{Infobox scientist | name = Professor Melanie Bahlo | marriage = 2008 | position = Associate Professor and Statistical Genetics Lab head, Bioinformatics Division, The Walter and Eliza Hall Institute for Medical Research, Parkville, VIC | nationality = Australian/German | birth_place = Germany | high_school = Albury High School | higher Education= [[BSc Hons and PhD in population genetics from Monash University ]] | achievements = }}

Matthew Edward Hurles is head of human genetics at the Wellcome Sanger Institute and an honorary professor of Human Genetics and Genomics at the University of Cambridge.


  2. "Richard COTTON Condolences | the Age".
  3. "Richard COTTON Condolences | the Age".
  4. "Human Variome Project Website".
  5. "Citrus Orchard Website: Real Oranges Delivered".
  6. "Old Melburnians Newsletter" (PDF). Archived from the original (PDF) on 2015-04-12.
  7. "Trust for Nature Annual Report 2003/2004".
  8. "Salvete", The Fleur-de-Lys", Nov. 1959, p. 14; "Rowing", p. 39.
  9. "History: Dookie 21". 2018-08-07.
  10. "César Milstein Obituary" (PDF).
  11. "César Milstein: The Father of Modern Immunology" (PDF).
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  13. Heintz, Caroline; Cotton, Richard G.H.; Blau, Nenad (2013). "Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria". Human Mutation. 34 (7): 927–936. doi:10.1002/humu.22320. PMID   23559577.
  14. "University of Melbourne Find an Expert - Professor Richard Cotton".
  15. "Richard Cotton a bit before his time". 2016-07-08.
  16. "Clinical Applications of NGS, the Human Variome Project and Data Sharing" (PDF).
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  18. "Human Mutation". Human Mutation. doi: 10.1002/(ISSN)1098-1004 .
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  20. "What is the Human Variome Project?". Nature Genetics. 39 (4): 423. April 2007. doi: 10.1038/ng0407-423 . PMID   17392793.
  21. "Human Variome Project - Legal Structure".
  22. "10 years of Public Health Genomics at CDC 1997-2007".
  23. "Human Variome Project".
  24. "Australian Government It's an Honour Website".
  25. "Human Variome Project UNESCO Partnership Details".
  26. Richard Cotton Selywn Smith Medical Research Prize 1991 Details. 1991.