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  • Human Variome Project
    Committee Appointments Grey genomics w VCGS Senior Scientist Belinda Chong Birds buckets beaches An analogy about genomics Points to Consider Ethical Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents Richard G H Cotton HVPI Memorial Fund In memory of our Founding Patron the Human Variome Project has established the Richard G H Cotton HVPI Memorial Fund to support the ongoing coordination work of the Human Variome Project International Coordinating Office Donate Upcoming Events HVP6 The 6th Biennial Meeting of the Human Variome Project Consortium Wed 1 Jun 2016 8 30 Fri 3 Jun 2016 17 30 HVP Biennial Meetings Open Knowledge Human Genomics Meetup Wed 17 Feb 2016 18 00 21 00 Special HVP Meetings ISAC Meeting February 2016 Thu 25 Feb 2016 12 00 13 00 ISAC Meetings G DSDBAC Meeting March 2016 Tue 8 Mar 2016 12 00 13 00 G DSDBAC Meetings ICCAC Meeting March 2016 Tue 15 Mar 2016 12 00 13 00 ICCAC Meetings ISAC Meeting March 2016 Thu 24 Mar 2016 12 00 13 00 ISAC Meetings ICCAC Meeting April 2016 Tue 26 Apr 2016 12 00 13 00 ICCAC Meetings ISAC Meeting April 2016 Thu 28 Apr 2016 12 00

    Original URL path: http://www.humanvariomeproject.org/ (2016-02-10)
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  • About the Human Variome Project: what we do and why we do it - Human Variome Project
    health with the aim to foster necessary professional interaction and debate in the area of genomics global health service delivery and safety Linking world leading professionals and institutions with genomics professionals researchers and academics in all parts of the world facilitating knowledge exchange and interactive debate Establishing a global evidence base for knowledge sharing in medical genetics and genomics and bringing relevant issues to the attention of Ministries of Health Science and Technology and Education A global need requires a global solution Changes in our genome both small and large are a fact of life They drive evolution constantly introducing phenotypic variability into the population ensuring that we as a species can adapt to changing environments However this same process can also cause disease and illness In the most obvious instances and the most devastating these diseases are diseases of childhood cystic fibrosis muscular dystrophy Tay Sachs disease to name a few but our genome also plays a role of some sort in every disease and disorder known to mankind Yet despite the extent of its involvement in determining our health there is still too much that humankind does not know about our genome What is worse when we find out new information we rely on antiquate methods to share it articles in medical journals presentations at conferences or we just don t share it at all This means that the ability of even most developed countries to deliver quality healthcare based on genomic knowledge is not as good as it could be In low and middle income countries the situation is even more dire The need for a comprehensive global repository of genetic variation information that is freely and openly available has been recognised since the late 1980s A number of groups have attempted to create such a repository in the past with projects such as the Human Gene Mutation Database Online Mendelian Inheritance in Man and a number of efforts at the US based National Centre for Biotechnology Information and the European Bioinformatics Initiative However none of these efforts have been successful as they all are too locally oriented and fail to engage broadly with the entire community thus limiting both their spheres of influence and their ability to collect data from a significant portion of the world s population In 2006 all of these groups and a number of the world s top geneticists clinicians and bioinformaticians and representatives of the World Health Organisation OECD European Commission United Nations Educational Scientific and Cultural Organisation March of Dimes Foundation Centers for Disease Control and Prevention some two dozen international genetics bodies and numerous genetics journals met at a meeting in Melbourne Australia The delegates at this meeting recognised that the only way to address the global need for information was via a global initiative This was the beginning of the Human Variome Project No one organisation or country can do this alone As the United Nations Educational Scientific and Cultural Organisation s 1997 Universal Declaration on the Human

    Original URL path: http://www.humanvariomeproject.org/about/about-the-human-variome-project.html (2016-02-10)
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  • Activities - Human Variome Project
    a global consortium to collaboratively develop international best practices for sharing genetic data in a responsible and efficient manner Armed with this knowledge our members individually and in smaller collaborative groups work within their own countries or professional societies to build new and improve existing data sharing infrastructure By working together at the global level to establish the best way forward while cooperating locally to build technical and human capacity we believe that we can put in place genomic knowledge sharing practices that are ethical sustainable and integrated into routine clinical practice Global Collection Architecture The Human Variome Project s ideal world includes a global system for the automated sharing and discovery of our collective genomic knowledge The Global Collection Architecture is an idealised view of what this might look like HVP Country Nodes are responsible for collecting clinically validated genetic variation data from diagnostic laboratories in each country or region of the world HVP Country Nodes are operated and managed locally in a manner that respects local ethical legal and social responsibilities HVP Country Nodes provide a focal point for HVP related activities in each country usually in conjunction with the local human genetics societies International Gene Disease Specific

    Original URL path: http://www.humanvariomeproject.org/activities/activities.html (2016-02-10)
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  • Solutions - Human Variome Project
    Working Groups in a deliberative and consultative fashion following the Human Variome Project s Standards Development Process The Human Variome Project produces two categories of recommendations HVP Standards and HVP Guidelines HVP Standards are those systems procedures and technologies that the Human Variome Project Consortium has determined should be used by the community These carry more weight than the less prescriptive HVP Guidelines which cover those systems procedures and technologies that the Human Variome Project Consortium has determined would be beneficial for the community to adopt HVP Standards and Guidelines are central to supporting the work of the Human Variome Project Consortium and cover a wide range of fields and disciplines from ethics to nomenclature data transfer protocols to collection protocols from clinics They can be thought of as both technical manuals and scientific documents and while the impact of HVP Standards and Guidelines differ they are both generated in a similar fashion HVP Standards No HVP Standards have been published yet But check out what s in the works HVP Guidelines Gene Disease Specific Variant Database Quality Parameters HVP GL 001 01 EN Disclaimer Statements for Gene Disease Specific Databases HVP GL 002 01 EN Navigate Home About Activities

    Original URL path: http://www.humanvariomeproject.org/solutions/solutions.html (2016-02-10)
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  • Resources - Human Variome Project
    Variome Project maintains a list of relevant resources on the range of ethical social and legal issues that relate to the storage and sharing of human variant data and information Genetics and Genomics Journals The Human Variome Project believes that all sequence variants reported in journal articles should not only be fully and accurately described within the articles that report them but also deposited into the appropriate gene disease specific

    Original URL path: http://www.humanvariomeproject.org/resources/resources.html (2016-02-10)
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  • Upcoming Meetings - Human Variome Project
    Meetings Upcoming Meetings Previous February 2016 Next 02 Feb 2016 ICCAC Meeting February 2016 17 Feb 2016 Open Knowledge Human Genomics Meetup 25 Feb 2016 ISAC Meeting February 2016 Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the International Coordinating Office Human Variome Project International Ltd Level 1 200 Berkeley Street University of Melbourne Victoria Australia P 61

    Original URL path: http://www.humanvariomeproject.org/meetings/upcoming.html (2016-02-10)
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  • The Richard G.H. Cotton HVPI Memorial Fund - Human Variome Project
    from developing countries in all these initiatives and promoted special sessions for platform presentations to present the successes achieved as well as the specific challenges faced by those working in the developing world If it was not for his leadership generosity of spirit his unrelenting good humour and persistent optimism in putting all these people efforts and achievements together we can only wonder where we would be in DNA based diagnostics and the delivery of genetic healthcare Sadly Richard Cotton passed away unexpectedly in June 2015 In his memory the Human Variome Project has established the Richard G H Cotton HVPI Memorial Fund to support the coordination component of the work that he dedicated much of his later years to To Make a Donation to the Richard G H Cotton HVPI Memorial Fund Donate online via PayPal Amount Donate as anonymous Make recurring donation Recurring cycle Monthly Annually Mail Your Donation Post a cheque or money order to Human Variome Project International Limited Level 1 200 Berkeley Street University of Melbourne VIC 3010 Direct Deposit Donations Bank National Australia Bank BSB 083 457 Account 19 135 6797 SWIFT NATAAU3303M Account Name Human Variome Project International Limited Address Level 1 200

    Original URL path: http://www.humanvariomeproject.org/donate.html (2016-02-10)
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  • Become A Member - Human Variome Project
    outcomes The Human Variome Project focusses on increasing both the quality and quantity of genomic knowledge that is collected curated interpreted and shared for clinical practice Please select the relevant member category to learn more about member benefits and details for signing up Individual Members Institutional Members Data Providers Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the

    Original URL path: http://www.humanvariomeproject.org/become-a-member.html (2016-02-10)
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