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  • Blog - Human Variome Project
    Ethical Legal Social Issues When should families put off genetic testing for their children Are direct to consumer tests safe for children Thinking about questions like these Read up on what the American Society of Human Genetics ASHG and American College of Medical Genetics and Genomics ACMG recommend Points to Consider Ethical Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents Image titled A Climb on DNA Model sourced under Creative Commons via Flickr from James Gentry 0 Comments Categories News Press Releases Statements Speeches Capacity Building Collaborating Projects HVP Country Nodes China Czech Republic Republic of Korea South East Asia Regional USA United Kingdom Venezuela Ethical Legal Social Issues Microattribution Subscribe by Email Get fresh blog posts delivered straight to your inbox Subscribe Popular Posts Human Variome Project International Limited Response to the Global Alliance for Genomics and Health Draft Constitution African genomics projects highlighted at major international scientific meeting A Global Alliance to Enable Responsible Sharing of Genomic and Clinical Data South East Asian Node Launched in Malaysia Submission regarding the Draft NIH Genomic Data Sharing Policy Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us

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  • New Board Appointments - Blog - Human Variome Project
    Zhonghua and James bring a depth of experience and new perspectives to the Board We are also pleased to welcome Kathryn North as an adviser to the Board on strategy and activities and as formal liaison between the Human Variome Project and the Global Alliance for Genomics and Health Steering Committee Kathryn is currently the Director of the Murdoch Childrens Research Institute in Melbourne Australia and the David Danks Professor of Child Health Research at the University of Melbourne 欢迎你 中国 Points to Consider Ethical Legal and Psychosoci Comments No comments made yet Be the first to submit a comment Leave your comment Don t forget to log in If you re a member of the Human Variome Project Consortium you might want to log in before posting a comment Not a member Why not sign up Guest Wednesday 10 February 2016 Captcha Image I have read and agree to the Terms Conditions Categories News Press Releases Statements Speeches Capacity Building Collaborating Projects HVP Country Nodes China Czech Republic Republic of Korea South East Asia Regional USA United Kingdom Venezuela Ethical Legal Social Issues Microattribution Subscribe by Email Get fresh blog posts delivered straight to your inbox Subscribe Popular Posts

    Original URL path: http://www.humanvariomeproject.org/blog/new-board-appointments.html (2016-02-10)
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  • Blog - Human Variome Project
    as thalassemia and sickle cell anaemia will benefit significantly in the coming years from a new international project announced today at the annual Human Genome Organisation meeting in Kuala Lumpur The Global Globin 2020 Challenge GG2020 an initiative of the Human Variome Project an international scientific NGO working with UNESCO and WHO to build medical genetics and genomics capacity particularly in low and middle income countries will apply recent developments in human genomics involving the systematic collection and sharing of genetic variation data to fighting these blood disorders referred to technically as haemolytic anaemias In particular the Challenge will build an evidence base for the better management of delivery of local treatment care and eventually cure for these diseases by ensuring that there is sufficient local capacity to deliver services It is believed that the Challenge will put in place the skills and expertise in genomic medicine needed to effectively tackle other health issues in these countries as well The Challenge is being led by two leading geneticists Professor Zilfalil bin Alwi from Malaysia and Professor Raj Ramesar from South Africa Both are members of the Human Variome Project Board and can see the benefits this project will bring to their patients and others in South East Asia Africa and the rest of the world Human Variome Project International HVPI Chairman Chris Arnold who chaired the HUGO session introducing the project thanked the GG2020 challenge co chairs and fellow HVPI directors Professor Zilfalil Bin Alwi from Universitie Sains Malaysia and Professor Raj Ramesar from the University of Cape Town South Africa for their leadership and willingness to coordinate this major global initiative Mr Arnold stated The haemolytic anaemias collectively are cause for significant morbidity and mortality especially in parts of the world where health systems are often less well developed Children are often most severely affected Despite much being known for a long time about the genetics and biology of the haemolytic anaemias and this knowledge being used successfully in some countries to systematically reduce burden of disease low and middle income countries have remained practically untouched by this knowledge and innovations In launching the Challenge Professor bin Alwi said The Malaysian Node of Human Variome Project is honoured to be given the privilege to co chair this Global Globin Initiative Hemoglobinopathy in particular Thalassaemia is a common disease in Malaysia where about 5 of the population are carriers of the disease 0 Comments Continue reading Response to Principles of the translation of omics based tests from discovery to health care Posted by Timothy D Smith on Monday 01 September 2014 in Statements In August the National Health and Medical Research Council in Australia called for comment on a draft of their Draft Principles for the translation of omics based tests from discovery to health care The Human Variome Project International Scientific Committee submitted the following response Dear Professor Ward On behalf of the Human Variome Project International Scientific Advisory Committee we congratulate you on the work of the National Health and Medical Research Council NHMRC Human Genetics Advisory Committee and the NHMRC Secretariat in producing the Principles for the translation of omics based tests from discovery to health care and we welcome the opportunity to respond as part of the document s public consultation These are complex issues that many health systems and research funding bodies around the world are grappling with We are pleased to have been invited by the NHMRC Secretariat to share the expertise of our members and provide an international perspective to these principles As you are well aware the Human Variome Project is an international non governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected curated interpreted and shared freely and openly The Human Variome Project provides a central coordinating function for national and international efforts to integrate the collection curation interpretation and sharing of information on variation in the human genome into routine clinical practice and research We are an active and growing Consortium of over 1 100 individual researchers healthcare professionals and policy makers and organisations from 81 countries that collaborate to develop and maintain the necessary standards systems and infrastructure to support global scale genomic knowledge sharing The Project itself is not directly involved in the development and operation of physical data storage and sharing infrastructure that is the responsibility of international disease groups national consortiums health systems and individual members Rather the Project exists to assist these groups by 0 Comments Continue reading Human Variome Project International Limited Response 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

    Original URL path: http://www.humanvariomeproject.org/blog/categories/listings/news.html (2016-02-10)
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  • Blog - Human Variome Project
    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 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 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 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 Professor Xitao Li Director of the Human Variome Project Chinese Node and a member of the Board of Directors for the International Human Variome Project while announcing the HVPCCDP But more importantly we are living in a world that is beginning to realise that every piece of information discovered about our genes and their function will have tremendous impact on a number of people all around the world The aim of the Human Variome Project China Country Development Program is to support the growth of a viable sustainable network of HVP Country Nodes across the world This growing network will support the achievement of the broader aims of the Human Variome Project including ensuring that all information on genetic variation can be collected curated interpreted and shared freely and openly and that this open sharing will result in speedier better and cheaper diagnosis and treatment of genetic disorders By focusing on projects involving partnerships of art least two countries we will increase

    Original URL path: http://www.humanvariomeproject.org/blog/categories/listings/press-releases.html (2016-02-10)
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  • Blog - Human Variome Project
    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 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 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 Statement by the Scientific Director on the passing of David Rimoin Posted by Timothy D Smith on Monday 28 May 2012 in Statements Today is a sad day Our colleague collaborator champion and friend Professor David Rimoin Inaugural Chair of our International Scientific Advisory Committee passed away after a brief battle with pancreatic cancer David was a true friend of the Human Variome Project Despite his many other commitments Director of the Medical Genetics Institute and Steven Spielberg Family Chair in Pediatrics Cedars Sinai Professor of Pediatrics Medicine and Human Genetics at the David

    Original URL path: http://www.humanvariomeproject.org/blog/categories/listings/statements.html (2016-02-10)
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  • Blog - Human Variome Project
    Human Genome Project as an equal partner and equally and freely accessible In other words we need the Human Variome Project This is not just an academic exercise When we know what gene has gone wrong in a disease we can soon find and study the relevant protein and possibly devise a prophylactic approach or even a cure Well then why Dick Cotton Simply put he is the most imaginative and productive scientist in the world in the field of mutation detection He is in command of every aspect every nuance and saw the need for a global project firs of all He was has the backing of UNESCO of the World Health Organisation and of most of the international experts in human genetics and genomics He has a well developed and articulate plan of modest cost And why Melbourne Few cities are as well placed to host this enterprise Wee have a plenitude of extraordinary medical research institutes and universities We have a first class position in bio informatics We have a remarkable Children s Hospital and clinical genetics service We have the Australian Synchrotron to guide the pathway from protein to therapeutics We have an amazing 100Milllion new supercomputer We are planning one of the great comprehensive cancer centres of the world We have a small but thrusting and growing bio technology industry Typically for Australia all these elements and sectors are brilliantly networked internationally in a friendly non threatening way Dick Cotton is the man Melbourne is the place now is the time Let s make the Human Variome Project happen for the benefit of all humanity Thank You 0 Comments Speech by Mr David Abraham at a Function in Support of the Human Variome Project hosted by the Governor of Victoria Posted by Timothy D Smith on Sunday 01 August 2010 in Speeches Governor Mrs de Kretser Ladies and Gentlemen My name is David Abraham I am a Director of The CASS Foundation but otherwise when it comes to the Human Variome Project I am a layperson The Human Variome Project can deliver better health outcomes speedier diagnosis speedier and more effective treatment and saves money lives and personal and family suffering It is already starting to do this both in Australia and internationally My role tonight is to tell you what you can do for the Human Variome Project I will briefly touch on 4 areas Firstly why me and why you Secondly why Victoria and why Melbourne Thirdly why you should not assume your Government will provide the necessary funds And lastly what you can do to assist As I said I am a Director of The CASS Foundation We fund medical and science research and some education projects We were introduced to the Human Variome Project a few years ago We were told that the mapping of the Gene had been a major advance but now it was critical to map the defects in the gene if diagnosis and treatment of many diseases

    Original URL path: http://www.humanvariomeproject.org/blog/categories/listings/speeches.html (2016-02-10)
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  • Blog - Human Variome Project
    to discover the function of each of the twenty thousand or so human genes Once the Human Genome Project the international effort to map the genes present in the human genome was completed a new global project was launched in 2006 to share information about genetic variation in clinical practice The Human Variome Project HVP acts as an umbrella organization actively engaging with partners and stakeholders in each country to ensure that genetic variation information generated during routine diagnostic and predictive testing is collected and shared The HVP is also instrumental in establishing and maintaining the standards systems and infrastructure that will embed the sharing of this knowledge in routine clinical practice 2 The United Nations Educational Scientific and Cultural Organization UNESCO serves as an important channel for the involvement of developing countries in the HVP as it did during the Human Genome Project One of the main goals of UNESCO is the development of international science that meets social needs in health food education and other standards of living This goal has become increasingly relevant in the Post 2015 Development Agenda 3 which aims to address these global challenges including the burden of diseases on the performance and growth of many nations particularly in developing countries where issues of public health are of major concern 4 Formed at the end of World War II UNESCO was one of numerous initiatives for international scientific cooperation undertaken by the nascent United Nations These scientific cooperation initiatives were seen as diplomatic opportunities to promote collaborations among nations in hopes of fostering peace and development The same sentiment is true today with the HVP one of the latest efforts by UNESCO to promote collaboration 0 Comments Continue reading Categories News Press Releases Statements Speeches Capacity Building Collaborating Projects HVP Country Nodes China Czech

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  • Blog - Human Variome Project
    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 sharing of variant data and information between countries

    Original URL path: http://www.humanvariomeproject.org/blog/categories/listings/collaborating-projects.html (2016-02-10)
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