Genomic Disorders Research Centre
- Prof Richard Cotton
Director
Professor Richard G H Cotton AM BAgSc PhD DSc (Melb)
Contact Details
Email: | |
Phone: | +61 (0)3 9288 2980 |
Fax: | +61 (0)3 9288 2989 |
Website: | |
Address: | 7th Floor Daly Wing |
Number of
Staff: 8
Students: 2 PhD
Research Interests
Vision
The Genomic Disorders Research Centre was formed to lead the world in genetic research, focusing on mutations in all organisms and its effects on human well being.
Mission
In the post Human Genome Project era, the Genomic Disorders Research Centre strives for excellence, focusing on gene mutation, its cause, detection, documentation, consequences and cure.
Objectives
- To promote human health and well being through the pursuit of genetic studies, particularly in the study of mutation.
- To identify faults in genes that are important in determining susceptibility to common human disorders, particularly neurological disorders.
- To develop innovative and novel technology to facilitate detection of gene mutation, its cause, documentation and assessment of its consequences and cure.
- To develop the intellectual property of the Centre to maximise value for the development of its assets.
- To promote national and international communication in the study of mutations, their detection and documentation.
- To train postgraduate students and, where possible, students at all levels
To establish and develop an endowment fund in order to derive income independently. - To seek and obtain funding to enable the pursuit of research and promotion of technology transfer at the highest level.
Current Projects
The Human Variome Project
Richard Cotton, Heather Howard, Lauren Hardman, Kate Philips, Rania Horaitis, Tim Smith, Maithili Sashindranath
www.humanvariomeproject.org
Mutation Databases
Rania Horaitis, Lauren Hardman, Kate Phillips, Tim Smith, Richard Cotton
International Collaborators (incl.): Connie Talbot, Manyphong Phommarinh, Charles Scriver
Human Genome Variation Society
Rania Horaitis, Lauren Hardman, Richard G. H. Cotton
www.hgvs.org
Human Mutation Journal
Rania Horaitis, Lauren Hardman, Richard Cotton
International Collaborators: Mark Paalman, Haig Kazazian Jr.
www.wiley.com/humanmutation
Molecular Studies in Epilepsy
Maithili Sashindranath, Mark Cook, Ian Trounce, Richard Cotton
Commercialisation
Elizabeth Webb, Richard Cotton, Adel Garas, Heather Howard
Genvartec Pty Ltd
Detection of DNA Modifying Agents Project
The Mutation Detection Project
www.genvartec.com
Genetic Characterisation of Psychotic Disorders (2006)
Matthew Law, Georgina Sallmann, Richard Cotton, Pat McGorry, Gregor Berger
Laboratory Techniques
- Chemical Cleavage of Mismatch (CCM)
- dHPLC
- NMR and UV spectroscopy
- Mutation documentation methods
Funding
- Victorian State Government
- Australian Federal Government
- National Health and Medical Research Council Fellowship and Development Grant
- CASS Foundation
- Myer Foundation
- Ian Potter Foundation
- Gandel Foundation
- ANZ Trustees
- Miller Foundation
- UNESCO
- American College of Human Genetics
- Melbourne University
- Australian Cancer Network
- HGSA
- Quebec Network of Applied Genetics
Additional Information
Mutations are small disorders or faults in genes, which can cause disease such as cancer. The human body relies on around 20,000 to 30,000 genes for its development and normal functioning. Each gene can malfunction in hundreds of ways, indicating that there is a possibility that things can go wrong in millions of ways. It is estimated that 2% of all babies are born with a genetic fault and 60% of people will be affected by a disease caused by a genetic disorder within their lifetime.
The need to reduce the complexity and the cost of mutation detection to facilitate early diagnosis underlies the work of the Centre. Established in 1996, the Centre was the first and remains the only organisation in the world to focus exclusively on gene mutation, its measurement and documentation and its linkage to inherited genetic disease, cancer and common diseases.
There is a universal demand for significant breakthroughs in the diagnosis, prevention and treatment of the world’s major diseases. New methods and technologies are required to deliver accurate, efficient and cost effective therapies. The Genomic Disorders Research Centre seeks to identify the multiple genes and pathways which underlie common diseases, and thereby impact on new drug discoveries and therapy development. This unique internationally recognised centre aims to facilitate improved diagnostic methods and more rapid progress in the discovery of the cause of disease due to faulty genes. To aid the progress of method development, specific diseases are studied to provide practical experience. These diseases are those with the highest incidence of occurrence and include epilepsy and schizophrenia.
Identification of the mutation provides the opportunity for the most accurate help for the patient and their families, and assists in the development of new cures. More recently the Centre has, in line with collaborative policies, introduced a focus towards neurological disorders in particular schizophrenia and epilepsy. The Centre initiated, and takes editorial responsibility for the high impact factor international journal, Human Mutation with a team of 60 of the world’s leading geneticists serving as communicating editors. Currently, in any gene there are as many mutations unpublished as published.
The lack of a common reference point denies patients, clinicians, companies and scientists a great deal of useful information. In 1994 the HUGO Mutation Database Initiative was initiated to guarantee collection and distribution of these unpublished mutations. In past years, the March of Dimes of the USA has provided support. This initiative developed into the Human Genome Variation Society which was incorporated in New York in November 2001 and is administered at the Centre. It has a rapidly growing membership. International meetings of the Human Genome Variation Society are held twice a year.
The Genomic Disorders Research Centre became a fully owned subsidiary company of the Howard Florey Institute in December 2003. During December 2003, aided by investment from the CASS Foundation, Genvartec Pty Ltd was also incorporated as a spin off company of the Genomic Disorders Research Centre. The Centre has now moved its administration to the St Vincent’s Hospital campus to reunite dry and wet laboratory pursuits.
Research
