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  • Applying new human genomics techniques and middle income countries: Global Globin 2020 Challenge | Global Globin 2020 Challenge | Project-wide Initiatives | HVP Meetings & Events | global-globin-2020-challenge - Human Variome Project
    Globin 2020 Challenge Applying new human genomics techniques and middle income countries Global Globin 2020 Challenge Global Globin 2020 Challenge Wednesday November 4 2015 10 30 12 00 A side event of the 2015 World Science Forum in Budapest Hungary 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

    Original URL path: http://www.humanvariomeproject.org/global-globin-2020-challenge/global-globin-2020-challenge/applying-new-human-genomics-techniques-and-middle-income-countries-global-globin-2020-challenge.html (2016-02-10)
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  • News - Human Variome Project
    explicit definition of the governance structure of the GA4GH specifically the relationships between the various organisational committees committee procedures terms of reference for the Steering Committee and Working groups and procedures for decision making Membership We note the document clearly differentiates between two different classes of members Organisational and Individual The GA4GH may wish to consider including more information on how the participation of Organisational and Individual members will be balanced and how this participation will be solicited and effected This will become quite important if the suggestions that we make below in the section on the Steering Committee are adopted Steering Committee The Steering Committee is presented as the governing body of the organisation The organisation membership is large and diverse and we are certain will grow Like any corporate or not for profit the law in most countries requires the majority of governing body members to be elected representatives of the members We believe this principle should apply to such a prominent body as GA4GH in the following ways Steering committee membership post transition we see the practical need for the SC to have ability to appoint a portion of the Steering Committee but for transparency and accountability having the majority elected by the membership with member numbers always representing a majority on the Steering Committee at any time Likewise the principle should apply to approval of the Constitution and any amendments to be by majority vote of the members Three year terms with staggered rotation is a good model Conflicts of interest It will be important to develop a specific policy with the Steering Committee or members of particular committees signing up to the policy We specifically note here that potential conflicts may be of varying types and not just of a commercial nature Most organisations now have a declaration of interests conflicts section at the start of each meeting to allow any member to declare anything related to the current meeting For probity we suggest that this be included in Steering Committee meeting and subcommittee agendas Yours faithfully Chris Arnold Chairman Human Variome Project International Limited tim variome org Timothy D Smith News Mon 01 Sep 2014 03 31 00 0000 African genomics projects highlighted at major international scientific meeting http www humanvariomeproject org blog african genomics projects highlighted at major international scientific meeting html http www humanvariomeproject org blog african genomics projects highlighted at major international scientific meeting html 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 Dr Oyekanmi Nash from the National Biotechnology Development Agency NABDA Abuja Nigeria and part of the project that is creating the African Bioinformatics Network to support researchers through the development of bioinformatics capacity on the continent highlighted the strength of African research Africa now has the capacity to support the research that needs to be done Before African researchers were forced to go overseas to train and undertake research projects Now African scientists are able to collaborate globally from Africa It is now a fertile environment for science and technology development Professor Richard Cotton the Scientific Director of the Human Variome Project an international organisation to facilitate the free and open sharing of genomic knowledge and who arranged for the session to take place remarked What we saw presented yesterday was a firm foundation on which further world class research work can be launched The research that the H3Africa Consortium is undertaking is of a quality that puts it among some of the best in the world ENDS Contact Information Professor Raj Ramesar Head of the Division of Human Genetics University of Cape Town raj ramesar uct ac za Professor Richard Cotton Scientific Director Human Variome Project cotton unimelb edu au About the Human Variome Project www humanvariomeproject org The Human Variome Project is an international consortium of heath care professionals researchers and policy makers that are committed to the idea of free and open sharing of genomic variation information Our members come from over 80 countries and from every region of the world Individually and together they are working to establish the standards systems and infrastructure to ensure that the knowledge and insights into our genome gained in their own countries are shared in a responsible manner with every other country The Human Variome Project acts as an umbrella organisation across multiple countries institutions and initiatives It works to encourage communication and collaboration around it central vision the improvement of global health through the sharing of genomic knowledge About H3Africa h3africa org Human Hereditary and Health Africa is a programme developed and supported by the African Society of Human Genetics the Wellcome Trust UK and the National Institutes of Health USA It aims to facilitate a contemporary research approach to the study of genomics and environmental determinants of common diseases with the goal of improving the health of African populations tim variome org Timothy D Smith News Wed 21 May 2014 12 00 00 0000 Submission regarding the Draft NIH Genomic Data Sharing Policy http www humanvariomeproject org blog submission regarding the draft nih genomic data sharing policy html http www humanvariomeproject org blog submission regarding the draft nih genomic data sharing policy html 19 November 2013 Office of Science Policy National Institutes of Health 6705 Rockledge Drive Suite 750 Bethesda MD 20892 GDS mail nih gov au 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 2 General Comments on the Draft Policy We are very pleased to see that the NIH is taking an active interest in data sharing and will be through this policy mandating the submission of data generated by the array based and high throughput research projects they fund The Human Variome Project exists to facilitate the free and open sharing of just this type of information and we applaud the NIH on taking the first steps down the road to full data sharing However we feel that this policy does not yet go far enough in terms of scope or vision to fully enable and promote the routine sharing of genetic variation information by activities funded by the NIH We have outlined our concerns in detail in the sections below 3 Comments on Specific Sections of the Draft Policy 3 1 Scope and Applicability Section II The Policy as drafted makes mandatory the submission of data generated by all NIH funded research that involves large scale human and nonhuman genomic data produced by array based or high throughput genomic technologies such as GWAS SNP whole genome transcriptomic epigenomic and gene expression data irrespective of funding level and funding mechanism This is an admirable start but we must ask why limit this policy to large scale genomic data There is undoubtedly much data generated by NIH funded research projects that would not be considered large scale that has potential value both in terms of re use in future research projects and also clinically when diagnosing and treating patients afflicted with rare genetic disorders The technical and administrative effort required to submit such data to an NIH funded repository or otherwise is not burdensome and could be easily integrated into existing research reporting workflows The NIH in drafting this Policy obviously acknowledges the benefits of wide scale data sharing It seems unnecessarily restrictive and potentially confusing to limit the scope of this policy to certain research projects that are categorized only under the ambiguous phrase involves large scale genomic data 3 2 Human Genomic Data Section IV C We are pleased to see that the draft policy does not seek to restrict the submission of data by research projects within the scope of the Policy solely to NIH funded repositories Although NIH funded repositories play a key role in the emerging data sharing infrastructure that is operating globally they are by no means the only places that such data could be stored and shared Indeed in quite a large number of cases future research projects and clinical practice would be better served if the data from NIH funded research projects were shared much more broadly than between NIH funded repositories Numerous disease specific research and clinical communities are well served and have been well served for over a decade by international gene disease specific databases GDSDBs or locus specific databases LSDBs While it could be argued that individual researchers working in these disease areas would be aware of these extant resources and include submission to them in their data sharing plans and this might very well be the case However we still believe that it would be wise for the NIH to include a more direct acknowledgement of data sharing options beyond those funded by the NIH The desired end result of this Policy is obviously to better human health through improved research and clinical delivery encouraging researchers to think more carefully about where the submission of their data would be most useful would go a long way to reaching this end result Finally we are a little concerned over the implied insistence of submission to an NIH funded repository as the minimum requirement of this policy as indicated by the sentence NIH designated data repositories need not be the exclusive source for facilitating the sharing of genomic data Our concerns are related to how this policy would be applied to those research projects that generate data via overseas partners and collaborators from samples derived from non US citizens and within a different ethical legislative or social context In these situations researchers may have difficulty or be prohibited from sharing data either completely or in part to a repository that is operated within a different country and funded by a separate sovereign power While we are sure that such a circumstance would be taken into consideration if articulated in the required data sharing plans the draft Policy itself is silent on the matter and would benefit from this matter being addressed 4 Concluding Remarks The Human Variome Project fully endorses the proposed draft Policy While we believe that the Policy could be extended to further promote and encourage the free and open sharing of data to enable more expansive use within both research and clinical contexts it is a good first step Yours Sincerely Richard G H Cotton AM PhD DSc FRCPA Hon Scientific Director Human Variome Project for the Human Variome Project International Scientific Advisory Committee tim variome org Timothy D Smith News Wed 04 Dec 2013 05 41 34 0000 Australian Led Human Variome Project Launches South East Asian Node http www humanvariomeproject org blog australian led human variome project launches south east asian node html http www humanvariomeproject org blog australian led human variome project launches south east asian node html 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 There is a genetic component to all illness and disease But for a lot of diseases we still need to find out what specific changes in our genes make up that component says Cotton And to do that we need to be able to sort through as much information as possible Sharing data between diagnostic laboratories is critical to being able to find these changes and give better advice to patients and their families The Human Variome Project works with national health systems and national societies of health professionals to establish HVP Country Nodes information sharing hubs that connect all the laboratories in a country providing genetic testing services The launch of the Human Variome Project South East Asian Node was officiated by Tan Sri Muhyiddin Bin Yassin Deputy Prime Minister of Malaysia and Minister for Education and Professor Dato Dr Omar Osman Vice Chancellor of Universiti Sains Malaysia It was held during Hari UNESCO Malaysia 2013 the United Nations Educational Scientific and Cultural Organisation s annual celebration of Malaysia Day at Dataran Memorial Kemerdekaan Melaka on the 3rd of October 2013 In launching the Human Variome Project Malaysian Node Muhyiddin Bin Yassin noted that the Human Variome Project provides space for genetic diseases studied in various countries and also provides access to current reference source for doctors and researchers It is to help their daily clinical practice as well as help in the field of biomedical research The information obtained will be used for global importance ENDS About the Human Variome Project 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 Human Variome Project acts as an umbrella organisation across multiple countries institutions and initiatives It works to encourage communication and collaboration around it central vision the improvement of global health through the sharing of genomic knowledge The Human Variome Project has four roles to establish and maintain the standards systems and infrastructure necessary for the worldwide collection curation interpretation and sharing of information across the genome to advocate and promote ethical behaviour in the field of medical genetics and genomics to share knowledge about our genome and its function in determining health and to assist individuals and nations build their capacity to address genetics aspects of individual and global health Media Contact Timothy D Smith tim variome org 61 0 419 357 589 http www humanvariomeproject org tim variome org Timothy D Smith News Thu 10 Oct 2013 12 00 00 0000 Professor Sir John Burn to deliver the 2013 R Douglas Wright Lecture http www humanvariomeproject org blog professor sir john burn to deliver the 2013 r douglas wright lecture 1 html http www humanvariomeproject org blog professor sir john burn to deliver the 2013 r douglas wright lecture 1 html 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 The R Douglas Wright Lecture series is an annual lecture presented by the R Douglas Wright group of the University of Melbourne in memory of R Douglas Wright 1907 1990 Professor of Physiology and University Chancellor 1980 1989 Sir John s lecture The diagnosis treatment and prevention of genetic disease will examine how new technologies and an increasing understanding of the genetic determinants of both rare and common disease are starting to turn the noise of the approximately 3 million mostly irrelevant variants predicted to occur in each of us into a useful clinical signal These signals uncovered by cheap DNA testing performed in minutes can lead to better direct interventions and dramatic improvements in our health The R Douglas Wright Lecture Tuesday 3 September 2013 6 00pm 7 00pm The Auditorium Melbourne Brain Centre Ground Floor Kenneth Myer Building 30 Royal Parade corner Genetics Lane The University of Melbourne Admission is free Bookings are required http alumni online unimelb edu au john burn ENDS About the Human Variome Project 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 Human Variome Project acts as an umbrella organisation across multiple countries institutions and initiatives It works to encourage communication and collaboration around it central vision the improvement of global health through the sharing of genomic knowledge The Human Variome Project has four roles to establish and maintain the standards systems and infrastructure necessary for the worldwide collection curation interpretation and sharing of information across the genome to advocate and promote ethical behaviour in the field of medical genetics and genomics to share knowledge about our genome and its function in determining health and to assist individuals and nations build their capacity to address genetics aspects of individual and global health Media Contact Timothy D Smith tim variome org 61 0 419 357 589 http www humanvariomeproject org tim variome org Timothy D Smith News Fri 23 Aug 2013 12 00 00 0000 Professor Sir John Burn to deliver the 2013 R Douglas Wright Lecture http www humanvariomeproject org blog professor sir john burn to deliver the 2013 r douglas wright lecture html http www humanvariomeproject org blog professor sir john burn to deliver the 2013 r douglas wright lecture html 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 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 The R Douglas Wright Lecture series is an annual lecture presented by the R Douglas Wright group of the University of Melbourne in memory of R Douglas Wright 1907 1990 Professor of Physiology and University Chancellor 1980 1989 Sir John s lecture The diagnosis treatment and prevention of genetic disease will examine how new technologies and an increasing understanding of the genetic determinants of both rare and common disease are starting to turn the noise of the approximately 3 million mostly irrelevant variants predicted to occur in each of us into a useful clinical signal These signals uncovered by cheap DNA testing performed in minutes can lead to better direct interventions and dramatic improvements in our health The R Douglas Wright Lecture Tuesday 3 September 2013 6 00pm 7 00pm The Auditorium Melbourne Brain Centre Ground Floor Kenneth Myer Building 30 Royal Parade corner Genetics Lane The University of Melbourne Admission is free Bookings are required tim variome org Timothy D Smith News Fri 23 Aug 2013 04 51 25 0000 Ensuring the Free and Open Sharing of Clinically Relevant Genome Variants A Statement by the Human Variome Project Consortium http www humanvariomeproject org blog ensuring the free and open sharing of clinically relevant genome variants a statement by the human variome project consortium 2 html http www humanvariomeproject org blog ensuring the free and open sharing of clinically relevant genome variants a statement by the human variome project consortium 2 html 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 tim variome org Timothy D Smith News Mon 24 Jun 2013 12 00 00 0000 The Human Variome Project and UNESCO celebrate 60 Years of Genetics and Genomics http www humanvariomeproject org blog the human variome project and unesco celebrate 60 years of genetics and genomics html http www humanvariomeproject org blog the human variome project and unesco celebrate 60 years of genetics and genomics html 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 The event hosted by the Permanent Delegation of the United Kingdom of Great Britain and Northern Ireland to UNESCO featured addresses and presentations by four distinguished international scientists and clinicians who spoke about the groundbreaking advancements over the last 60 years that have lead to our current ability to reliably diagnose and treat a large number of genetic conditions Professor Werner Arber who was awarded the Nobel Prize in 1978 for the discovery of restriction enzymes the chemical compounds that allow scientists to cut long DNA molecules at defined locations and ushered in an age of gene technology recounted the steps that lead to his famous discovery In speaking of the discovery itself Arber remarked that he did not think it was groundbreaking at the time merely a good thing to know Professor Michel Morange noted scholar of the history of science spoke on the complex path to the double helix Although it is now seen today as one of the seminal discoveries in human genetics and molecular biology the model of DNA s structure that Watson and Crick proposed was not immediately accepted Doubts about its accuracy remained for almost 30 years Morange noted that these doubts were so strong that even Crick proposed an alternative model of DNA structure in 1975 Professor Stefano Simplici Chair of UNESCO s International Bioethics Committee spoke of our genomes as the heritage of humanity not only in a symbolic sense and reminded the audience that the human genome underlies the fundamental unity of all members of the human family In doing so he recalled the wording of the International Declaration on the Human Genome and Human Rights adopted by UNESCO in 1997 that states The human genome in its natural state shall not give rise to financial gains The human genome and its variations must not become the private property of one country one group one country Scientists should be able to carry out their research and share their results with integrity and openness said UNESCO DDG Engida echoing Semplici s talk The event concluded with Professor Sir John Burn consultant clinical geneticist and Lead Clinician for the NHS in the North East of England offering a view into the future of medicine The expansion of sequencing capacity is astonishing said Sir John referring to mankind s ability to sequence the DNA in an individual s genome The third person in the world to have their genome sequenced was a woman in 2008 It cost about 40 000 Had it been done in 2000 it would have cost over 100 million I confidently believe that in a few years we will sequence a genome for 100 In the future that Sir John envisioned this capacity to produce sequence data will allow clinicians and researchers to readily uncover the specific changes in our DNA as well as the combination of dietary environmental and lifestyle factors that taken together cause almost every disease imaginable However he warned that Sorting through all of these factors requires us all to work together We all have a responsibility to integrate Leaving the attendees with a sobering thought Sir John reminded the audience that failure to share knowledge kills people Accompanying the event a public exhibition of artefacts and materials chronicling the history of human genetics and genomics will run until the 18th of June at the UNESCO headquarters building UNESCO and the Human Variome Project are planning to tour the exhibition internationally over the course of 2013 ENDS About the United Nations Educational Scientific and Cultural Organisation UNESCO works to create the conditions for dialogue among civilizations cultures and peoples based upon respect for commonly shared values It is through this dialogue that the world can achieve global visions of sustainable development encompassing observance of human rights mutual respect and the alleviation of poverty all of which are at the heart of UNESCO S mission and activities The broad goals and concrete objectives of the international community as set out in the internationally agreed development goals including the Millennium Development Goals MDGs underpin all UNESCO s strategies and activities Thus UNESCO s unique competencies in education the sciences culture and communication and information contribute towards the realization of those goals UNESCO s mission is to contribute to the building of peace the eradication of poverty sustainable development and intercultural dialogue through education the sciences culture communication and information UNESCO has been promoting international cooperation and capacity building in science since 1945 The Organization also addresses ethical issues concerning the use of scientific knowledge and its applications and advocates the importance of utilizing basic research to meet societal needs and strengthening links between science policy and society About the Human Variome Project 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 Human Variome Project acts as an umbrella organisation across multiple countries institutions and initiatives It works to encourage communication and collaboration around it central vision the improvement of global health through the sharing of genomic knowledge The Human Variome Project has four roles to establish and maintain the standards systems and infrastructure necessary for the worldwide collection curation interpretation and sharing of information across the genome to advocate and promote ethical behaviour in the field of medical genetics and genomics to share knowledge about our genome and its function in determining health and to assist individuals and nations build their capacity to address genetic aspects of individual and global health Media Contact Timothy D Smith tim variome org 61 0 419 357 589 http www humanvariomeproject ort tim variome org Timothy D Smith News Mon 10 Jun 2013 12 00 00 0000 A Global Alliance to Enable Responsible Sharing of Genomic and Clinical Data http www humanvariomeproject org blog a global alliance to enable responsible sharing of genomic and clinical data html http www humanvariomeproject org blog a global alliance to enable responsible sharing of genomic and clinical data html 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 The cost of genome sequencing has fallen one million fold and more and more people are choosing to make their genetic and clinical data available for research clinical and personal use However interpreting these data requires an evidence base for biomedicine that is larger than any one party alone can develop and that

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  • Capacity Building - Human Variome Project
    framework of its International Basic Sciences Programme the HVP s Project Roadmap to 2016 was presented 7 Among its goals are the completion of high quality gene and disease specific databases for at least three thousand genes by 2016 and a further five thousand genes thus making it a total of eight thousand genes by 2022 The Project Roadmap also sets a target of forty countries double the current total sharing information with these international databases by 2016 Sharing of genetic and genomic data particularly when they are linked to patient clinical data is almost always subject to local laws regulations and professional codes of practice This makes developing a single standard approach to data collection storage access and transfer almost impossible Since public health issues transcend both domestic and international policies to encourage greater adoption of data sharing practices while retaining local control over data and their use the HVP works with stakeholders within individual countries including national health systems ministries of health and national societies of human genetics to establish what it calls HVP Country Nodes An HVP Country Node acts as a national focal point for genomic data sharing activities and has a specific role in connecting all the laboratories in a country that provide genetic testing services Each node is managed and financed locally by a committee or organization that represents a sufficient number of national stakeholder groups and the node enjoys the backing or support of the country s human genetics society or similar professional body So far nodes have been established in twenty countries Australia Austria Belgium China Cyprus the Czech Republic Egypt Italy Kuwait Malaysia Mexico Nepal the Netherlands Nigeria the Republic of Korea Spain the United Kingdom the United States Venezuela and Vietnam The HVP Country Nodes do not operate in isolation As part of an international consortium they are active in HVP activities participating in the development of HVP Standards and Guidelines and sharing their knowledge and experience with other HVP Country Nodes Continuing membership of the HVP Consortium and recognition as an HVP Country Node is at all times subject to the HVP Code of Conduct An HVP Country Node consists of three components One is a repository or linked network of databases where information on a genetic variation within a country is collected and stored This repository enables the sharing of the information both nationally and internationally The second is a governance structure that ensures that the work of the node is both sustainable in the long term and consistent with all relevant national and international ethical legal and social requirements and considerations The third is a set of policies and procedures that ensures that the repository is operated and maintained in a responsible and accountable manner that is consistent with both national standards and the HVP s Standards and Guidelines Action in the third component is driven within the consortium by interest groups that are formed around broad topical areas such as ethics phenotype and pathogenicity Consortium members are divided into working groups around very narrow topics to produce standards and specify the systems and infrastructure required to address particular issues This process is overseen by the HVP s International Scientific Advisory Committee which leads the HVP in matters of strategic scientific direction for current and future activities The committee is also responsible for managing the development and publication of all HVP Standards and Guidelines as well as the arbitration of the dispute resolution process Voting members of the committee are elected by the two advisory councils one is the representative body for gene and disease specific databases and the other for HVP Country Nodes Nodes in certain regions can assume a supporting coordinating and developing role for neighboring countries to become Regional Nodes The overall activities and the international management of the HVP are facilitated by the small staff of the International Coordinating Office It is organized in a manner that ensures that the core scientific focus of the project is maintained while retaining the necessary commercial and organizational skills to manage the project New Partners New Frontiers UNESCO is the only agency within the UN system that deals with fundamental science Its unique combination of cultural and scientific interests makes it an ideal forum for interdisciplinary discussion and the promotion of understanding By acting as a bridge among governments governmental organizations and nongovernmental agencies such as the HVP UNESCO is able to facilitate effective international cooperation Through UNESCO nations not currently involved in the HVP may gain access to it and ultimately make some contribution of their own In its dealings with the HVP specifically UNESCO provides a focal point for the exchange of data technology and samples relevant to genomic research and also for debate among scientists from different disciplines or from widely separated countries UNESCO s creation of the International Bioethics Committee a body committed to ensuring respect for human dignity and freedom in the field of life sciences and its applications with special attention to patient confidentiality confers to the organization the legitimacy to work in such a sensitive field as the collection of genetic data In working under UNESCO s umbrella the HVP consequently is in compliance with the Universal Declaration on the Human Genome and Human Rights8 the International Declaration on Human Genetic Data 9 and the Universal Declaration on Bioethics and Human Rights 10 A tremendous step forward for the project took place in 2013 with the establishment of the HVP South East Asian Node It represented significant recognition by Malaysian authorities that genetic and genomic healthcare is an important part of a well developed health system and it flagged their serious engagement with initiatives to provide these services to their citizens as well as working closely within the region to address common challenges The launch of the HVP South East Asian Node was officiated by Tan Sri Muhyiddin Bin Yassin Malaysia s deputy prime minister and minister for education and Omar Osman vice chancellor of Universiti Sains Malaysia The

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  • Collaborating Projects - Human Variome Project
    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 The agreement sets out a number of specific

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  • HVP Country Nodes - Human Variome Project
    html http www humanvariomeproject org blog republic of korea joins the project html 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 We re very glad to welcome this join undertaking from the Republic of Korea as our seventeenth HVP Country Node said Professor Richard Cotton the Human Variome Project s Scientific Director There s been a lot of interest from Korea in the Project over the last few years and we re are extremely delighted that they have comitted to freely and openly sharing their nation s genetic data with the world tim variome org Timothy D Smith HVP Country Nodes Mon 12 Aug 2013 06 05 50 0000 Venezuela join the Project http www humanvariomeproject org blog venezuela join the project html http www humanvariomeproject org blog venezuela join the project html 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 The Venezuelan Node was established in the Hospital de Clìnicas Caracas Unidad de Genética Hospital Vargas de Caracas Escuela de Medicina Vargas UCV and will work with Instituto de Estudios Avanzados IDEA and the Instituto de Investigaciones Cientìficas IVIC in Caracas and with the Instituto de Investigaciones Genèticas Dr Heber Villalobos Cabrera in Maracaibo estado Zulia Authorities at the Genetics Unit Hospital Vargas de Caracas Escuela de Medicina JM Vargas Facultad de Medicina Universidad Central de Venezuela and Hospital de Clínicas Caracas have agreed to host the computational infrastructure for the Venezuelan Node A computer center adapted for data analysis and communication using the LOVD3 system will be used as suggested by the HVP organization The HVP Venezuelan Node will be a national repository of genetic variation information and will begin its work with a focus on cystic fibrosis Duchenne Becker s muscular dystrophies haemophilias A and B Fragile X Syndrome Gaucher disease Autism gene candidates GABRB3 GABRG3 GABRA5 Colon Cancer Prostate Cancer Spinal Muscular Atrophy polymorphisms in new mutations in metilentetrahidrofolato reductasa MTHFR Huntington s disease spinocerebellar ataxias and genetic polymorphisms associated with cardiovascular disease The Venezuelan node will be working in collaboration with the Spanish and Mexican Node Especially in new mutation determinations in neurogenetic conditions tim variome org Timothy D Smith HVP Country Nodes Mon 25 Mar 2013 01 57 38 0000 United Kingdom joins the Project http www humanvariomeproject org blog united kingdom joins the project html http www humanvariomeproject org blog united kingdom joins the project html Just in time for HVP4 and the 2nd meeting of the International Confederation of Countries Advisory Council the United Kingdom has officially joined the Human Variome Project as an HVP Country Node This brings the

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  • Ethical, Legal & Social Issues - Human Variome Project
    tests and without a genetic counsellor to deliver them Before all these companies even occurred we ve had calls can you test for everything and we re thinking at that time what do you mean everything so we do already have people wanting this kind of test and you almost can t say if it s available no we can t do it so as long as they consumers are aware that these companies they re not providing these things and it s probably advisable that you do get all these things provided if it s not from them then maybe someone else have a second person go to a genetic counsellor go to another person who understands results and all that and get all that explained to you as long as people understand that then it might not be as bad I know it s not a good way but because things are already out there and you can t stop it maybe there s something that can be put in place someone they can go to someone they can approach to talk to about what all this means I think then it won t be as bad So we re not quite Gattaca yet Belinda reassures me that Gattaca does not play on loop in the office but she has seen it and shares with me her main concern about the future of genomics It would be great if we could just give a hair sample and we d get everything But my biggest concern would be people not being given all the necessary I can t even say answers it s not black or white you can t say this is your result that s it cause there s still so much unknown so it needs to be this is a grey result so it s still not complete currently as far as we know this is what it is now but in 5 years time it could change It could change I ve heard family history can change the grey result too but what about families who aren t on the best of terms Well then they need to understand that the result that they re getting may shift depending on whether you have family members tested or not so you just need to know that this is my result and these are the risks but it could change if I had more information But that sounds like the start of a journey and I get the feeling many people might just want the black or white result and when s that coming and how do I get there I don t know whether there will ever be a black or white I think people need to be realistic in the results they are getting positive results yes they may be positive but they may also be positive for something else and that s impacting on the current thing and then your course of whatever changes

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  • Microattribution - Human Variome Project
    in today s scientific world Further imagine that through some fluke of evolution a highly intelligent species of bird with eyes and beaks suited to picking up and classifying individual grains of sand inhabit the island on which you wish to sort your sand Now all you have to do is train the birds to pick up the sand and deposit it into the correct bucket according to your bucket classification system but why would a bird do this Food Why would a researcher do this Publications To pull down the analogous curtain grains are genetic variants birds are researchers food is scientific recognition and buckets are genetic databases but the problem is really a problem We need to catalogue all the genetic variants in the world because it is this data that will enable us to get a handle on genetic disease diseases like sickle cell anemia cystic fibrosis polycystic kidney disease Tay Sachs and many others Whilst the birds favourite food continues to be publications publications don t get the sand sorted into buckets fast enough There is a faster approach it just requires a different sort of food MA or microattribution Microattribution opens up the discovery of

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  • Blog - Human Variome Project
    masters I did think about doing nursing yeah that s completely different again looking at patients and patient care but by the time I d really thought about it I had already started my masters and was nearly completing it 0 Comments Continue reading The Human Variome Project Global Coordination in Data Sharing Posted by Casimiro Vizzini on Wednesday 01 April 2015 in Capacity Building This article originally appeared in Science Diplomacy on 19 March 2015 It is republished here with permission One way to address the global challenges of public health in developing countries is through international collaboration to share data It s important to do this not just for humanitarian reasons but because open information is at the heart of scientific progress One field in which this is particularly evident is genomic research which has made revolutionary progress in recent years Since the first genetic variation causing inherited disease sickle cell anemia was defined at the protein level sixty years ago 1 it has become possible to locate isolate sequence and clone individual genes Indeed there has been an explosion in research 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

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