Media Release
Embargoed until 22.12.09
First Comprehensive Database for Genetic Variants of Disease
to be Established in Australia
The Federal Government has announced funding for the development of the first
national database of genetic variants of human diseases.
The program, called the Australian Node of the Human Variome Project (HVP), is
being funded by a $500,000 grant to establish an online database linking all
diagnostic centres and hospitals in the country. The linkage will provide the
participating organisations with a uniform method to download all genetic mutations
they find in the diagnosis of disease.
The aim of the database is to provide a list to clinicians and researchers of the
mutations that cause disease, which will lead to improved genetic healthcare and
research. Some of the disorders caused by genetic mutations are Cystic fibrosis,
Haemophilia, Spina bifida, and Colour blindness, among others.
The Australian node of the HVP, is the first uniform and national undertaking of this
kind in the world. It is being funded by the National eResearch Architecture
Taskforce, through the collaboration of the Australian Research Collaboration
Service and the Australian National Data Service, as a model that can be duplicated
internationally.
Ms Heather Howard, Project Manager for the Australian Node of the Human Variome
Project said, “Other collections exist around the world, but they are manned
voluntarily and include only random centres collecting data within countries.”
“The provision of federal funding to develop a central database which can be updated
by clinicians and researchers, and is also for their use, will establish a model that we
hope to export to the rest of the world”, Ms Howard said.
Ends
For more information or media interviews please contact:
Heather Howard
Prof Richard Cotton
Project Manager
Director
Australian Node of the Human Variome Project
Human Variome Project
Mobile: 04 14 458 627
Mobile: 04 13 361 397
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