Human Variome Project
Encyclopedia
Human
Humans are the only living species in the Homo genus...
genetic variation
Genetic variation
Genetic variation, variation in alleles of genes, occurs both within and among populations. Genetic variation is important because it provides the “raw material” for natural selection. Genetic variation is brought about by mutation, a change in a chemical structure of a gene. Polyploidy is an...
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 Professor Richard Cotton, a leader in the field of humanHuman
Humans are the only living species in the Homo genus...
genetic variation
Genetic variation
Genetic variation, variation in alleles of genes, occurs both within and among populations. Genetic variation is important because it provides the “raw material” for natural selection. Genetic variation is brought about by mutation, a change in a chemical structure of a gene. Polyploidy is an...
. His group, the Genomic Disorders Research Centre, based at the University of Melbourne
University of Melbourne
The University of Melbourne is a public university located in Melbourne, Victoria. Founded in 1853, it is the second oldest university in Australia and the oldest in Victoria...
and St. Vincent's Hospital
St Vincent's Hospital, Melbourne
St Vincent's Hospital, Melbourne is the major hospital in Fitzroy, Melbourne, Australia.It is operated by the St Vincent's Health service, previously known as the Sisters of Charity Health Service, Melbourne...
, 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
Internet
The Internet is a global system of interconnected computer networks that use the standard Internet protocol suite to serve billions of users worldwide...
. 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 Bio-informatics scientists came together in June 2006 at the Human Variome Project Meeting, organized by Professor Cotton’s team, and agreed 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
World Health Organization
The World Health Organization is a specialized agency of the United Nations that acts as a coordinating authority on international public health. Established on 7 April 1948, with headquarters in Geneva, Switzerland, the agency inherited the mandate and resources of its predecessor, the Health...
, OECD, European Commission
European Commission
The European Commission is the executive body of the European Union. The body is responsible for proposing legislation, implementing decisions, upholding the Union's treaties and the general day-to-day running of the Union....
, UNESCO
UNESCO
The United Nations Educational, Scientific and Cultural Organization is a specialized agency of the United Nations...
, March of Dimes
March of Dimes
The March of Dimes Foundation is a United States nonprofit organization that works to improve the health of mothers and babies.-Organization:...
(US), Centers for Disease Control and Prevention
Centers for Disease Control and Prevention
The Centers for Disease Control and Prevention are a United States federal agency under the Department of Health and Human Services headquartered in Druid Hills, unincorporated DeKalb County, Georgia, in Greater Atlanta...
(US), Google
Google
Google Inc. is an American multinational public corporation invested in Internet search, cloud computing, and advertising technologies. Google hosts and develops a number of Internet-based services and products, and generates profit primarily from advertising through its AdWords program...
, representatives of two dozen international genetics bodies, numerous genetics journals, 20 countries and Australia
Australia
Australia , officially the Commonwealth of Australia, is a country in the Southern Hemisphere comprising the mainland of the Australian continent, the island of Tasmania, and numerous smaller islands in the Indian and Pacific Oceans. It is the world's sixth-largest country by total area...
n State
Parliaments of the Australian states and territories
The Parliaments of the Australian states and territories are legislative bodies within the federal framework of the Commonwealth of Australia. Before the formation of the Commonwealth in 1901, the six Australian colonies were self-governing, with parliaments which had come into existence at various...
and Federal Governments
Government of Australia
The Commonwealth of Australia is a federal constitutional monarchy under a parliamentary democracy. The Commonwealth of Australia was formed in 1901 as a result of an agreement among six self-governing British colonies, which became the six states...
.
This major international project, a natural partner to the Human Genome Project
Human Genome Project
The Human Genome Project is an international scientific research project with a primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000–25,000 genes of the human genome from both a physical and functional...
, 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
Health informatics
.Health informatics is a discipline at the intersection of information science, computer science, and health care...
, database
Database
A database is an organized collection of data for one or more purposes, usually in digital form. The data are typically organized to model relevant aspects of reality , in a way that supports processes requiring this information...
curation
Curator
A curator is a manager or overseer. Traditionally, a curator or keeper of a cultural heritage institution is a content specialist responsible for an institution's collections and involved with the interpretation of heritage material...
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 genetic variation
Genetic variation
Genetic variation, variation in alleles of genes, occurs both within and among populations. Genetic variation is important because it provides the “raw material” for natural selection. Genetic variation is brought about by mutation, a change in a chemical structure of a gene. Polyploidy is an...
for the benefit of everyone.
The Centre for Arab Genomic Studies
Centre for Arab Genomic Studies
The Centre for Arab Genomic Studies is a not-for-profit study centre aimed at the characterization and prevention ofgenetic disorders in the Arab World. Established in 2003 in accordance with the vision of H.H. Sheikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai, UAE, the Centre is closely...
(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.
See also
- VariomeVariomeThe Variome is the whole set of genetic variations found in populations of species that have gone through a relatively short evolution change. For example, among humans, about 1 in every 1,200 nucleotide bases differ. However, as the human species diverged only 10,000 years ago, this variation rate...
- Human Genome ProjectHuman Genome ProjectThe Human Genome Project is an international scientific research project with a primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000–25,000 genes of the human genome from both a physical and functional...
- Human genetic variationHuman genetic variationHuman genetic variation refers to genetic differences both within and among populations. There may be multiple variants of any given gene in the human population , leading to polymorphism. Many genes are not polymorphic, meaning that only a single allele is present in the population: that allele is...
- Population groups in biomedicine
- Human Gene Mutation Database (HGMD)