First Comprehensive Database For Genetic Variants Of Disease

< BACK TO RESEARCH starstarstarstarstar   Science - Research Press Release
22nd December 2009, 03:00am - Views: 613

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


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. 


For more information or media interviews please contact:

Heather Howard

Prof Richard Cotton

Project Manager


Australian Node of the Human Variome Project

Human Variome Project

Mobile: 04 14 458 627

Mobile: 04 13 361 397

news articles logo NEWS ARTICLES
Contact News Articles |Remove this article