The Human Variome Project’s vision is for a world where the availability of and access to genetic variation information is not an impediment to diagnosis, prognosis and treatment and minimization of inherited disease. The fulfillment of this vision requires the involvement of many people from both technical and non-technical disciplines and the formation of large international collaborations. The recently announced partnership between the Human Variome Project and China has provided a number of opportunities for these collaborations to be undertaken.
The Human Variome Project Beijing Meeting will be a forum where with the support of China, the necessary international collaborations can be discussed, debated and formalised. It will continue to address the complex issues of how collaborative projects can be initiated and developed to produce positive clinical and research outcomes and allow the work to start. Meeting participants are drawn from the most prominent and representative experts in each of the relevant disciplines worldwide. The Human Variome Project Beijing Meeting aims to take the Project to the next level of international collaboration by specifically: -
Cementing & establishing collaborative relationships with relevant international bodies -
Introduction of the Chinese Node Roadmap -
Discussing the key issues involved in developing an HVP Country Node including:
- Data models for country collection - Software platforms - Ethics - Issues faced by low/middle income countries - Discussing key issues in establishment with the support of China of Gene/Disease specific databases including:
- Pathogenicity assignment - Curation -
Facilitating the development of guidelines, protocols and support to assist the establishment and maintenance of gene/disease specific databases -
Developing a plan for the selection of genes and diseases for which databases are to be established and/or assisted -
Establishing procedures for the alignment of existing national and gene/disease specific databases
Directly following the meeting there will be a one day inaugural meeting of the International Confederation of Countries Advisory Council, this will be attended by the representatives of the HVP Country Nodes. The meeting will be simultaneously translated from English to Chinese and Chinese to English.
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