The Human Variome Project (HVP) is the global initiative to collect and curate all

human Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing ...

genetic variation Genetic variation is the difference in DNA among individuals or the differences between populations among the same species. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources ...

affecting human health. Its mission is to improve health outcomes by facilitating the unification of data on human genetic variation and its impact on human health.

Inception

The HVP concept was conceived by Richard Cotton, a leader in the field of

. His group, the Genomic Disorders Research Centre, based at the

University of Melbourne The University of Melbourne (colloquially known as Melbourne University) is a public university, public research university located in Melbourne, Australia. Founded in 1853, it is Australia's second oldest university and the oldest in the state ...

and St. Vincent's Hospital, has established a consortium that covers genomic variation and its health implications in a comprehensive form. This consortium has encouraged the creation and supported many of the 571 gene specific variation databases currently available on the

internet The Internet (or internet) is the Global network, global system of interconnected computer networks that uses the Internet protocol suite (TCP/IP) to communicate between networks and devices. It is a internetworking, network of networks ...

. However, these databases are of varying completeness and individualistic, so the Human Variome Project was born to establish a central project to encourage the collection and sourcing of this data, verifying it and ultimately using it for improved health outcomes. Geneticists, diagnosticians, researchers and bioinformatics scientists came together in June 2006 at the Human Variome Project Meeting, organized by Cotton’s team, and agreed to take on the task of organising data collection and unifying the systems of data access and storage. This initiative builds on substantial pilot work and achievements of the Human Genome Variation Society. The authority of those initiating this project is evidenced by the fact that major international bodies were present. These included WHO,

OECD The Organisation for Economic Co-operation and Development (OECD; , OCDE) is an international organization, intergovernmental organization with 38 member countries, founded in 1961 to stimulate economic progress and international trade, wor ...

European Commission The European Commission (EC) is the primary Executive (government), executive arm of the European Union (EU). It operates as a cabinet government, with a number of European Commissioner, members of the Commission (directorial system, informall ...

UNESCO The United Nations Educational, Scientific and Cultural Organization (UNESCO ) is a List of specialized agencies of the United Nations, specialized agency of the United Nations (UN) with the aim of promoting world peace and International secur ...

March of Dimes March of Dimes is a United States nonprofit organization that works to improve the health of mothers and babies. The organization was founded by US President Franklin D. Roosevelt in 1938, as the National Foundation for Infantile Paralysis, to co ...

(US),

Centers for Disease Control and Prevention The Centers for Disease Control and Prevention (CDC) is the National public health institutes, national public health agency of the United States. It is a Federal agencies of the United States, United States federal agency under the United S ...

(US),

Google Google LLC (, ) is an American multinational corporation and technology company focusing on online advertising, search engine technology, cloud computing, computer software, quantum computing, e-commerce, consumer electronics, and artificial ...

, representatives of two dozen international genetics bodies, numerous genetics journals, 20 countries and

Australia Australia, officially the Commonwealth of Australia, is a country comprising mainland Australia, the mainland of the Australia (continent), Australian continent, the island of Tasmania and list of islands of Australia, numerous smaller isl ...

State State most commonly refers to: * State (polity), a centralized political organization that regulates law and society within a territory **Sovereign state, a sovereign polity in international law, commonly referred to as a country **Nation state, a ...

and

Federal Governments Federal or foederal (archaic) may refer to: Politics General *Federal monarchy, a federation of monarchies *Federation, or ''Federal state'' (federal system), a type of government characterized by both a central (federal) government and states or ...

. This major international project, a natural partner to the

Human Genome Project The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ...

, will require substantial funding to get it to a sustainable position. A five-year secure budget period of approximately US$12m per year has been proposed to initiate the project. This will enable the project to be organized and find operational funds for the tasks of system development,

informatics Informatics is the study of computational systems. According to the Association for Computing Machinery, ACM Europe Council and Informatics Europe, informatics is synonymous with computer science and computing as a profession, in which the centra ...

database In computing, a database is an organized collection of data or a type of data store based on the use of a database management system (DBMS), the software that interacts with end users, applications, and the database itself to capture and a ...

curation and clinical access as well as collection systems that are open and accessible to all. The Human Variome Project seeks to provide open access to the full realm of

for the benefit of everyone. The Centre for Arab Genomic Studies (CAGS) has initiated efforts to proceed with the Arab Human Variome Project under the Human Variome Project. CAGS was one of the participants of the HVP meeting in Melbourne. Since then, several meetings have been held between officials of HVP and CAGS members to discuss the nature of work involved.

References

{{Reflist

External links

Official Project website
Human genome projects Population genetics organizations

Inception

See also

References

External links