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China committed to the global fight to eradicate genetic disease today with representatives of the Chinese Government pledging around US$300 million to establish a new institute to directly contribute to the work of the Human Variome Project.

“This is an unprecedented step forward for the field of genetic health,” says Professor Richard Cotton, the Project’s Scientific Director and a Professorial Fellow of the University of Melbourne. “By committing this level of funds directly to achieving the vision of the Human Variome Project, China has shown the world that not only do they recognise genetic disease as a serious global health issue, but that they are serious about addressing it.”

With a population of some 1.4 billion people, a quarter of the world’s population, there is a huge amount of genetic diversity within China. The new institute, based in Beijing, will leverage that diversity to build new—and supplement existing—databases that catalogue genetic variation within genes implicated in hundreds of genetic diseases.

“The Human Variome Project sees the creation and curation of gene and disease specific genetic variation databases as vital,” says Cotton. “Our Project Roadmap is centred on the creation of these databases and we’re delighted that this money will enable our colleagues in China to substantially contribute in such an important way.”

The Chinese contribution represents the largest investment towards the project to date. “It’s difficult to give an accurate estimate of the total funding committed to the vision of the Project.” says Cotton, “This is not your average research project. It’s literally hundreds, if not thousands of projects in upwards of 30 countries spread around the world that are all contributing to the one vision. However this contribution represents around a 25% investment in the project.” Previous to this, the Human Variome Project has had some significant successes: the European Commission awarded European Project Members €12 million in 2007 and the Project recently announced a A$2.5 million grant from the Victorian State Government to ensure the Project’s coordination and facilitation functions remained in Australia.

But despite this significant boost to the Project’s activities, Professor Cotton warns that there is still a lot of work to be done. “The Human Variome Project sees a world where the availability of and access to genetic variation information is not an impediment to diagnosis and treatment. The commitment from China will go a long way to making that vision a reality, but we still have a long way to go. We’d definitely like to see more countries become involved, and there are a number of ways that can happen. Our network of HVP Country Nodes, secure repositories of all the genetic variants being discovered in the diagnostic laboratories of individual countries, is one way that that can be achieved.”


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Guest Thursday, 27 January 2022