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  • Blog - Human Variome Project
    WHO and the Human Variome Project In essence the agreement sets out how the two will work together to assist WHO in achieving its goal of providing leadership in global health matters that relate to human genomics with a particular emphasis on service delivery and safety in low and middle income countries This marks a new initiative for WHO While it has always had a small program on genetics and health focusing mainly on genetic diseases for some time this new program marks a change in focus to the broader issue of human genomics and public health The public health implications of advances in human genetics and genomics are of increasing importance to all professionals working in the field Our agreement with WHO is a significant complement to our existing status as an NGO with operational status with UNESCO as it links the Project and our Consortium members to the world of international health WHO is responsible for the key issues affecting health including shaping international health research agenda setting norms and standards for health matters and assessing health trends The Human Variome Project s key contribution to these efforts will be to give a voice to the various health professionals working in human genetics and genomics particularly those in low and middle income countries where opportunities to shape policy are sometimes weak The key mechanism for this will be the HVP Country Nodes and the International Confederation of Countries Advisory Council The Project has 22 formally constituted Country Nodes together with another six countries that are in the process of seeking membership These are found in all regions of the world The interest in HVP Country Nodes is growing fast as researchers clinicians and health bureaucrats increasingly realise the importance of national bodies to oversee the transparent and open

    Original URL path: http://www.humanvariomeproject.org/blog/blogger/listings/rhm.html (2016-02-10)
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  • Blog - Human Variome Project
    to the Global Alliance for Genomics and Health Draft Constitution Posted by Timothy D Smith on Monday 01 September 2014 in Statements In August the Global Alliance for Genomics and Health called for comment on their draft constitution As a founding member of the Global Alliance the Human Variome Project issued the following response Dear Professor Altshuler Human Variome Project International Limited HVPI welcomes the development of a draft Global Alliance for Genomics and Health GA4GH constitution for comment by participating organisations Constitutions are important documents that lay the foundation for almost every part of an organisation s existence and it bodes well that GA4GH has taken the laudable step of engaging in genuine consultation with its member organisations on this document To further promote dialogue and discussion we might suggest that the feedback that is received on this document be placed on a section of the GA4GH website either publicly accessible or restricted to GA4GH member organisations We believe that the document as it currently stands is a good first step towards defining a constitution for the GA4GH We are pleased to see that important concepts and principles such as collaboration ethics responsible data sharing transparency and openness feature heavily in the document We look forward to participating in the process of articulating the detail necessary to implement these concepts We recognise that there are areas that will require further consideration over time some of which we will refer to in this response 0 Comments Continue reading African genomics projects highlighted at major international scientific meeting Posted by Timothy D Smith on Wednesday 21 May 2014 in Press Releases Media Release For Immediate Release Paris France 21 May The diverse range of human genomics research projects being undertaken by African institutions and researchers involved in the Human Hereditary and Health in Africa H3Africa Consortium was highlighted yesterday during the 5 th Biennial Meeting of the Human Variome Project Consortium The lead researchers from seven African nations involved in the H3Africa Consortium presented their ongoing work at a special session of the Human Variome Project meeting that was opened by Mdme Robertine Raonimahary Director of the United Nations Educational Scientific and Cultural Organisation s UNESCO Africa Department Office for Cooperation and partnerships between Member States It is no secret that Africa s history has been marked by a development narrative in which the benefits from science technology and innovation have been enjoyed by few said Raonimahary Today it is changing and Africa s leaders view science technology and innovation as critical to human development and global competitiveness and increasingly are investing more substantially in research quality science education and upgrade of research and teaching infrastructure Over the last few years the biggest revolution is occurring in genomic research Nowadays Africans have the highest levels of genetic diversity within and among populations and the study of this diversity can contribute immensely to this area of science First of all to reconstruct human demographic and evolutionary history to study the African Diaspora and African ancestry globally to study the genetic basis of susceptibility to communicable and non communicable diseases and finally to understand differences in drug response The projects being presented ran the gamut of human genomics research from identifying the genetic variants involved in the development of diseases primarily affecting individuals of African descent to investigating the underlying genomic components of susceptibility to infectious diseases such as trypanosomiasis Researchers also reported on the development of a continent spanning bioinformatics capability and a network of state of the art biorepositories Professor Raj Ramesar from the University of Cape Town who chaired the session and sits on the H3Africa Steering Committee said Twenty seven African nations are currently involved in the H3Africa Consortium covering twenty research project n diseases of local relevance with funding in the order of US 74 million provided by the US National Institutes of Health and the UK Wellcome Trust The session during the Human Variome Project meeting was directed at bringing the progress and results of these important projects to the attention of African governments and highlighting the current research impetus in their countries towards translating the outcomes of these projects for local utility 0 Comments Continue reading Submission regarding the Draft NIH Genomic Data Sharing Policy Posted by Timothy D Smith on Wednesday 04 December 2013 in Statements 19 November 2013 Office of Science Policy National Institutes of Health 6705 Rockledge Drive Suite 750 Bethesda MD 20892 This email address is being protected from spambots You need JavaScript enabled to view it Submission regarding the Draft NIH Genomic Data Sharing Policy 1 Background to Submission The Human Variome Project is an international consortium of scientists and healthcare professionals who are working towards a significant reduction in the burden of genetic disease on the world s populations The aim of the Human Variome Project is to ensure that all information on genetic variation can be collected curated interpreted and shared freely and openly This will lead to speedier better and cheaper diagnosis and treatment of genetic disorders and better insight into the causes severity and effect of common disease The Human Variome Project achieves its aims by establishing and maintaining the necessary standards systems and infrastructure by providing education and training to scientists clinicians genetic counsellors other healthcare professionals and the general public and by assisting nations build their capacity in medical genetics and genomics The Human Variome Project acts as an umbrella organisation and works to encourage communication and collaboration around its central vision The importance of the Human Variome Project was recognised in 2011 by the United Nations Educational Scientific and Cultural Organisation in the Project s admittance to Consultative Partner status 0 Comments Continue reading Australian Led Human Variome Project Launches South East Asian Node Posted by Timothy D Smith on Thursday 10 October 2013 in Press Releases Media Release For Immediate Release Melbourne 10 October Efforts to fully document the full scale of human genetic variation and its role in illness and disease were boosted last week with the launch of the Human Variome Project South East Asian Node The Human Variome Project is an international initiative coordinated from Melbourne to ensure that discoveries about the human genome and how it affects our health are routinely shared in a free and open manner The Human Variome Project South East Asian Node will assist the national efforts of Malaysia Brunei Vietnam Singapore and Thailand to share information on genetic variations in South East Asian populations between member nations and the rest of the world This is a tremendous step forward for these countries said Professor Richard Cotton from the University of Melbourne and Scientific Director of the Human Variome Project who was present at the launch ceremony in Melaka Malaysia on the third of October These countries obviously recognise that genetic and genomic healthcare is an important part of a well developed health system and they are serious about providing these services to their citizens Once thought to only contribute in a major way to a small subset of diseases that primarily affect children genetics is now seen as being important to almost all areas of human health 0 Comments Continue reading South East Asian Node Launched in Malaysia Posted by Timothy D Smith on Wednesday 09 October 2013 in South East Asia Regional The Human Variome Project South East Asian Node will assist the national efforts of Malaysia Brunei Vietnam Singapore and Thailand to share information on genetic variations in South East Asian populations between member nations and the rest of the world 0 Comments Continue reading Professor Sir John Burn to deliver the 2013 R Douglas Wright Lecture Posted by Timothy D Smith on Friday 23 August 2013 in Press Releases Media Release For Immediate Release Melbourne 23 August The Human Variome Project International Coordinating Office are pleased to announce that Professor Sir John Burn Deputy Chair of the Project s International Scientific Advisory Committee will be delivering the 2013 R Douglas Wright Lecture at the University of Melbourne on Tuesday 3 rd September 2013 Professor Sir Burn is currently the lead clinician for the UK National Health Service North East and genetics lead for the UK National Institute of Health Research He was previously a director of the Institute of Genetic Medicine at The University of Newcastle Upon Tyne 2005 2010 and president of the European Society of Human Genetics 2007 Professor Burn is widely regarded in the field of monogenic disorders particularly in establishing the genetic basis of a neurodegenerative disorder called neuroferritinopathy and the major form of hereditary colorectal cancer called the Lynch syndrome He led the study that demonstrated the use of aspirin in reducing the risk of colorectal and other cancers in persons with Lynch syndrome and leads an international consortium investigating chemoprevention in persons with hereditary non polyposis colon cancer He is currently exploring cell based vaccines for colorectal cancer and is involved in a startup company which aims to develop the use of nanowires nanotubes and nanoribbons in genotyping and gene sequencing 0 Comments Continue reading Professor Sir John Burn to deliver the 2013 R Douglas Wright Lecture Posted by Timothy D Smith on Friday 23 August 2013 in News The Human Variome Project International Coordinating Office are pleased to announce that Professor Sir John Burn Deputy Chair of the Project s International Scientific Advisory Committee will be delivering the 2013 R Douglas Wright Lecture at the University of Melbourne on Tuesday 3rd September 2013 0 Comments Continue reading Republic of Korea joins the Project Posted by Timothy D Smith on Monday 12 August 2013 in Republic of Korea The Republic of Korea became the Human Variome Project s 17th HVP Country Node on the 7th of August The HVP Korean Node will be a joint undertaking of the Genetic Society of Korea and the Genome Research Foundation 0 Comments Continue reading Ensuring the Free and Open Sharing of Clinically Relevant Genome Variants A Statement by the Human Variome Project Consortium Posted by Timothy D Smith on Monday 24 June 2013 in Statements Genetic tests for diagnostic predictive and screening purposes are a routine part of clinical care in most modern healthcare systems and as we discover more about the genetic determinants of our health we can expect genetic testing to become more prevalent At the same time new technological advancements lower costs and increased training and education will see genetic testing spread rapidly into routine clinical practice in countries with to date less advanced healthcare systems Despite major advances that have allowed the technical portion of genetic testing to become routine the interpretation of clinical sequencing results remains a major challenge given the enormous amount of rare and unique genetic variation in the human population Enabling patients to optimally benefit from genetic testing will require major advances in our understanding of genetic variation and its impact on health and disease Open data sharing of patient genotypes and phenotypes is necessary to achieve these advances The Human Variome Project believes that all laboratories that undertake genetic testing for diagnostic prognostic or screening purposes must share the molecular and phenotypic data generated or collected in the course of testing in an appropriate public database Not sharing this data prevents comparative assessments of variant interpretations reduces consensus building decreases the quality of test interpretations and allows for potential harm to patients To this end the Human Variome Project fully supports the recent American College of Medical Genetics and Genomics Position Statement on Public Disclosure of Clinically Relevant Genome Variants http short variome org acmg crgv statement Further the Human Variome Project calls on national governments regulatory bodies and professional societies to facilitate the free and open sharing of this information by reducing legislative and procedural barriers While the Human Variome Project recognises the sensitive nature of genetic information and accompanying clinical data and is aware of the ethical legal and social issues inherent in its collection storage and use the Project also recognises that this same information is fundamental to the practice of genetic and genomic medicine A balance must be struck between protecting individual privacy and establishing a body of evidence capable of providing life saving medical intervention to the population at large 0 Comments The Human Variome Project and UNESCO celebrate 60 Years of Genetics and Genomics Posted by Timothy D Smith on Monday 10 June 2013 in Press Releases Media Release For Immediate Release Paris 10 June Over 150 scientists diplomats and interested members of the public paused today to commemorate and reflect on three important anniversaries that have dramatically shaped biomedical research and set the stage for the delivery of personalised healthcare The event 60 Years of DNA held at the headquarters of the United Nations Educational Scientific and Cultural Organisation UNESCO in Paris France and co organised by the Human Variome Project and the UNESCO International Basic Sciences Program celebrated the 60th anniversary of the discovery of the structure of DNA and the 10th anniversaries of the completion of the Human Genome Project and the adoption of the International Declaration on Human Genetic Data In opening the event Mr David Abraham Chairman of the Board of Human Variome Project International which operates the Project s International Coordinating Office reminded those present why these anniversaries deserve notice Genetics and genomics drastically impacts almost all aspects of human disease 7 million children are born each year with a genetic disorder or birth defect 90 of these children are from low income countries We need better ways to share our genomic knowledge so that all people can share in the benefits of our common genetic heritage The Human Variome Project is an international consortium of scientists and health professionals working to improve global health through the free and open sharing of genetic variation information The role of the HVP is to facilitate the collection curation interpretation and sharing of genetic variation information across the world said Abraham The Project has a proud working relationship with UNESCO Together we promote research to better understand and manage human disease to share progress in human genetics across national boundaries and stimulate further breakthroughs said UNESCO Deputy Director General Mr Getachew Engida UNESCO is working to raise awareness among member states about the importance of genetic research especially for health Governments and other players must invest far more in genetics and genomics At the same time we need greater cooperation across borders Humanity has no choice but to move forward together 0 Comments Continue reading A Global Alliance to Enable Responsible Sharing of Genomic and Clinical Data Posted by Timothy D Smith on Wednesday 05 June 2013 in News Over 70 leading health care research and disease advocacy organizations including the Human Variome Project announced today that they have taken the first steps to form an international alliance dedicated to enabling secure sharing of genomic and clinical data to improve research into the genetic basis of human disease 0 Comments Continue reading Venezuela join the Project Posted by Timothy D Smith on Monday 25 March 2013 in Venezuela The Human Variome Project is pleased to announce that Venezuela has joined the international Project as an HVP Country Node The HVP Venezuelan Node is a combined initiative of the Venezuelan Genetics Society and several academic and research institutions actively involved in the field of human and medical genetics 0 Comments Continue reading Ensuring the Free and Open Sharing of Published Variant Data A Statement by the Human Variome Project Consortium Posted by Timothy D Smith on Wednesday 20 March 2013 in Statements Introduction The Human Variome Project Consortium believes that the free and open sharing of human genetic variation information will lead to improved health outcomes for all people worldwide We also believe that the most efficient and effective means for sharing this information is via a network of gene disease specific databases as described by the Project s Global Collection Architecture To ensure the fullest dissemination of variation information to the genetics community we believe 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 databases prior to publication We acknowledged that some journals already share these values but the adoption and implementation of appropriate guidelines for manuscript authors is patchy especially with respect to the submission of data to databases The Human Variome Project Consortium strongly encourages all journal editors to enforce a strict mandatory policy that all variants be correctly described and deposited into variant databases prior to publication Such a policy is already enforced by Human Mutation and other journals represented in the Human Variome Project s Journal Editors Interest Group and appears to be working effectively This Statement lays out the ideal scope of such a policy We do however recognise that some journals will be unable to impose all aspects of this statement 0 Comments Continue reading HVP and the World Health Organisation a call for participation Posted by Timothy D Smith on Thursday 29 November 2012 in News The Human Variome Project is currently working with the World Health Organization WHO and other partners on a consultation to determine the feasibility of establishing a global program on human genomics and public health 0 Comments Continue reading Major Grant Program Announced by Human Variome Project Posted by Timothy D Smith on Tuesday 12 June 2012 in Press Releases Paris 12 June During the opening session of its 4 th Biennial Meeting today the Human Variome Project announced the establishment of a major grant program to be administered in collaboration with the Human Variome Project Chinese Node The Human Variome Project China Country Development Program will provide grants of 75 000 to projects that promote knowledge exchange across national boundaries in the areas of medical genetics and genomics Now more than ever we are living in a world where our individual genetic makeup will determine the course of the medical treatment we will undergo said

    Original URL path: http://www.humanvariomeproject.org/blog/blogger/listings/tdsmith.html (2016-02-10)
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  • ISAC Meeting - September 2016 | ISAC Meetings | Committee & Council Meetings | meetings - Human Variome Project
    Fora Project wide Initiatives Home Meetings ISAC Meeting October 2015 ISAC Meeting September 2016 ISAC Meetings Thursday September 22 2016 12 00 13 00 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 3 9035 9519 E info

    Original URL path: http://www.humanvariomeproject.org/meetings/isac/isac-meeting-september-2016.html (2016-02-10)
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  • ISAC Meeting - ASHG - October 2016 - TBC | ISAC Meetings | Committee & Council Meetings | meetings - Human Variome Project
    October 2015 ISAC Meeting ASHG October 2016 TBC ISAC Meetings Tuesday October 18 2016 Saturday October 22 2016 To be held during ASHG 18 22 October 2016 date and time TBC 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

    Original URL path: http://www.humanvariomeproject.org/meetings/isac/isac-meeting-ashg-october-2016-tbc.html (2016-02-10)
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  • Work Products - HVP Standards - Human Variome Project
    Outputs Work Products Draft Standards Guidelines Policy Documents ISAC Documents ICCAC Documents G DSDBAC Documents Position Papers Interest Groups Publications Home Activities Work Products HVP Standards Work Products No files available yet for this category Powered by nbsp jDownloads 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

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/hvp-standards.html (2016-02-10)
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  • Work Products - HVP Guidelines - Human Variome Project
    Products Document Document Title Document Type Version License Document Status Release Date HVP GL 002 01 EN Disclaimer Statements for Gene Disease Specific Databases HVP Guideline Version 1 0 CC BY SA 4 0 Published 2014 12 18 HVP GL 001 01 EN Gene Disease Specific Variant Database Quality Parameters HVP Guideline Version 1 0 CC BY SA 4 0 Published 2014 09 18 Powered by nbsp jDownloads Navigate Home

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/hvp-guidelines.html (2016-02-10)
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  • Work Products - Committees & Councils - Human Variome Project
    Guidelines Policy Documents ISAC Documents ICCAC Documents G DSDBAC Documents Position Papers Interest Groups Publications Home Activities Work Products Work Products Subcategories ISAC Files 88 ICCAC Subcategories 1 Files 39 G DSDBAC Files 43 No files available yet for this category Powered by nbsp jDownloads 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

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/committees-and-councils.html (2016-02-10)
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  • Work Products - Standards Development Process - Human Variome Project
    ISAC Documents ICCAC Documents G DSDBAC Documents Position Papers Interest Groups Publications Home Activities Work Products HVP Standards Work Products Subcategories Draft Standards Guidelines Files 6 Activity Proposals Files 8 Working Groups Subcategories 4 Files 7 No files available yet for this category Powered by nbsp jDownloads Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the International Coordinating

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/standards-development-process.html (2016-02-10)
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