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  • International Scientific Advisory Committee - Human Variome Project
    Councils Voting Members Sir John Burn co Chair National Institute of Health Research UK 2011 Garry Cutting co Chair Johns Hopkins School of Medicine USA 2013 Raymond Dalgleish University of Leicester UK 2013 Jordan Lerner Ellis Mount Sinai Hospital Canada 2013 Finlay Macrae The Royal Melbourne Hospital Australia 2010 Ming Qi Zhejiang University Medical School China 2012 Raj Ramesar University of Cape Town South Africa 2013 Juergen Reichardt James Cook University Australia 2015 Peter Taschner Leiden University Medical Center The Netherlands 2013 Mauno Vihinen Lund University Sweden 2010 Michael Watson American College of Medical Genetics and Genomics USA 2013 Martina Witsch Baumgartner Medizinische Universität Innsbruck Austria 2013 Non voting Members Arleen Auerbach The Rockefeller University USA 2010 Qasim Ayub Wellcome Trust Sanger Institute UK 2014 Mireille Claustres IURC Institut Universitaire Clinical Research France 2010 Collet Dandara University of Cape Town South Africa 2014 Johan T den Dunnen Leiden University Medical Center The Netherlands 2010 Mona El Ruby National Research Centre Egypt 2010 Aída Falcón de Vargas Venezuelan Central University Venezuela 2010 Marc Greenblatt HGVS President University of Vermont USA 2010 Ada Hamosh McKusick Nathans Institute for Genetic Medicine USA 2014 Helena Kääriäinen IFHGS President National Institute for Health and Welfare Finland 2015 Dhavendra Kumar University Hospital of Wales UK 2014 Rita Inés Noher de Halac National University of Cordoba Argentina 2014 Heidi Rehm Harvard Medical School USA 2014 Augusto Rojas Martínez Universidad Autónoma de Nuevo León Mexico 2014 Katsushi Tokunaga University of Tokyo Japan 2014 Thomas Weber Department of Veterans Affairs New York Harbor Healthcare System USA 2014 Ingrid Winship University of Melbourne Australia 2014 Former Members Richard Cotton University of Melbourne Australia 2010 2014 Stephen Lam Hong Kong Department of Health Hong Kong 2010 2014 Donna Maglott National Center for Biotechnology Information USA 2013 2015 Yoichi Matsubara Tohoku University School of Medicine Japan 2010 2012 Gert Jan van Ommen Leiden University Medical Center The Netherlands 2010 2013 David Rimoin Cedars Sinai USA 2010 2012 Meeting Calendar ISAC Meeting February 2016 Thursday February 25 2016 12 00 13 00 ISAC Meeting March 2016 Thursday March 24 2016 12 00 13 00 ISAC Meeting April 2016 Thursday April 28 2016 12 00 13 00 ISAC Meeting HVP6 June 2016 Friday June 3 2016 14 30 17 30 ISAC Meeting June 2016 Thursday June 23 2016 12 00 13 00 ISAC Meeting July 2016 Thursday July 28 2016 12 00 13 00 ISAC Meeting September 2016 Thursday September 22 2016 12 00 13 00 ISAC Meeting ASHG October 2016 TBC Tuesday October 18 2016 0 00 Saturday October 22 2016 0 00 ISAC Meeting November 2016 Thursday November 17 2016 12 00 13 00 ISAC Meeting December 2016 Thursday December 15 2016 12 00 13 00 Work Products International Scientific Advisory Committee Work Products Role Responsibilities International Scientific Advisory Committee members are likely to be affiliated with an array of international groups diagnostic laboratories government agencies foundations citizen groups universities and other interested parties that work cooperatively to establish and maintain standards

    Original URL path: http://www.humanvariomeproject.org/about/international-scientific-advisory-committee.html (2016-02-10)
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  • International Confederation of Countries Advisory Council - Human Variome Project
    Nodes Members Interim Members Country Primary Contact Secondary Contact Date Joined Austria Martina Witsch Baumgartner 10 December 2010 Australia Bryan Williams Vivien Vasic 28 October 2010 Belgium Thomy de Ravel Helene Antoine Poirel 11 November 2010 Canada Jordan Lerner Ellis Matthew Lebo 3 December 2014 China Ming Qi 6 January 2015 Cyprus Andreas Hadjisavvas Maria Loizidou 19 November 2010 Czech Republic Milan Macek 20 May 2012 Egypt Sherifa Ahmed Hamed Mahmoud Raafat Kandil 1 November 2010 Italy Maurizio Genuardi Domenico Coviello 12 March 2014 Kuwait Makia Marafie Fahd Al Mulla 26 October 2010 Malaysia Zilfalil bin Alwi Amir Feisal Merican 24 October 2010 Mexico Augusto Rojas Martinez Diego Arenas Aranda 8 July 2012 Nepal Tilak Shrestha Rebati Man Shrestha 18 April 2011 The Netherlands Peter E M Taschner Marielle E van Gijn 3 November 2014 Nigeria Oyekanmi Nash Hadiza Mahey Rasheed Jada 4 November 2013 Republic of Korea Myungchull Rhee Jong Bhak 2 August 2013 Spain Angel Carracedo Maria Jesus Sobrido 21 December 2010 South Africa Raj Ramesar Collet Dandara 26 February 2015 Sweden Richard Rosenquist Johan Rung 20 November 2014 United Kingdom Andrew Devereau Sir John Burn 14 June 2012 United States of America Michael Watson Bruce Korf 30 May 2012 Venezuela Aída Falcón de Vargas 8 February 2013 Vietnam Chí Dũng Vũ 18 December 2010 Observers Country Individual Date Joined Brazil Peter Pearson 21 August 2014 Mozambique Denise Brito 16 September 2014 Portugal Celeste Bento 23 July 2014 Philippines April Grace D Berboso 01 November 2015 New Zealand Dylan Mordaunt 20 November 2015 Bangladesh Sharif Akhteruzzaman 13 December 2015 Member Types Interim Interim status is offered to those who are able to meet two requirements agree to work towards meeting the requirements of the core definition of HVP Country Nodes are able to provide satisfactory evidence that they

    Original URL path: http://www.humanvariomeproject.org/about/international-confederation-of-countries-advisory-council.html (2016-02-10)
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  • Gene/Disease Specific Database Advisory Council - Human Variome Project
    the ICCAC plays an important role in the operation of the Project Specifically the role of the G DSDBAC is to Promote and develop the work of Gene Diseases Specific Databases both their own and others within the network through active participation in meetings and relevant official working groups and by representing the Human Variome Project at various national and international fora Contribute to the development of Human Variome Project official documentation including Activity Proposals Standards Development the Human Variome Project Solution Blueprint and the Human Variome Project Roadmap Provide information on the activities of member databases for Human Variome Project reports and publications Take an active role in the expansion of the network of international Gene Disease Specific Databases by providing guidance for other Consortium Members in initiating developing financing and operating their databases Provide guidance and advice to the International Scientific Advisory Committee and Human Variome Project Board on matters concerning gene disease specific collection and sharing of genetic variation information Members Database Primary Contact Date Joined Ammar Al Chalabi Stefan Aretz Arleen Auerbach Timothy Barret David Baux Jean Pierre Bayley Daniel Bichet Nenad Blau Nancy Braverman Paola Carrera Raymond Dalgleish Johan T den Dunnen Eamonn Maher Rosemary Ekong Pascal Escher Marc Ferre Mary Fujiwara Bruce Gottlieb Daniel Hampshire Raoul Hennekam Alex Hewitt Ammar Husami Sarah E A Leigh Derek Lim Finlay Macrae Etienne Mornet Magali Olivier Olubunmi K D Abel Sue M Povey Yves Sabbagh Judith Anne Savige Sarah Sim Tamas Hegedus Carli Tops Ronald Trent Richard van Wijk Katarzyna Wertheim Tysarowska Mauno Vihinen Tom Winder Martina Witsch Baumgartner Johannes Zschocke Meeting Calendar G DSDBAC Meeting March 2016 Tuesday March 8 2016 12 00 13 00 G DSDBAC Meeting May 2016 Tuesday May 10 2016 12 00 13 00 G DSDBAC Meeting July 2016 Tuesday July 12

    Original URL path: http://www.humanvariomeproject.org/about/gene-disease-specific-database-advisory-council.html (2016-02-10)
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  • Scientific Directorates - Human Variome Project
    place to support the strategic objectives of the Project The Regional Scientific Directors for the Human Variome Project are appointed by the HVPI Board based on regional requirements Each Regional Scientific Director is an ex officio member of the International Scientific Advisory Committee Human Variome Project Regions These regions will be reviewed and extended on a needs basis Europe and Africa Sir John Burn United Kingdom Johan den Dunnen The Nederlands The Americas Garry Cutting United States of America Michael Watson United States of America Asia Pacific Finlay Macrae Australia Ingrid Winship Australia Princial accountabilities and tasks Build and maintain strong external corporate networks and industry relationships within the region and generally Assist in the appraisal and coordination of long term plans within the organization and advise the Board on the provision and utilization of financial resources Attend meetings of the HVPI board ex office unless the appointee is already a member of the Board Attend HVP Scientific Advisory Committee Meetings Attend HVP Council meetings when required Assist in developing and writing grants Assist in developing fundraising objectives and strategies in consultation with the Board and or chairperson of the fundraising committee Take an active role in major fundraising activities

    Original URL path: http://www.humanvariomeproject.org/about/scientific-directorates.html (2016-02-10)
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  • International Coordinating Office - Human Variome Project
    the role of National Director She moved on from the Wilderness Society to take up the position of Executive Officer to the Association of Massage Therapists Australia with a duel role heading the National Council of Massage Allied Health Practitioners the peak body for tactile therapies during this time she was instrumental in setting up government approved Diploma and Certificate courses for the industry Timothy D Smith Scientific Programs Manager This email address is being protected from spambots You need JavaScript enabled to view it Follow tim d smith Timothy Smith started with the Human Variome Project International Coordinating Office while working on his PhD at the University of Melbourne His research looks at the methods and processes that are utilised to curate online databases of genetic variation databases and how these can be improved Timothy has a passion for communicating complex ideas in simple and succinct ways using different media and tools Growing up in Brisbane Australia Timothy moved to Melbourne when he started high school before moving on to study biochemistry and molecular biology at the University of Melbourne His work at the International Coordinating Office covers developing managing and evaluating the Project s research and policy development efforts Rania Horaitis Conference Events Officer This email address is being protected from spambots You need JavaScript enabled to view it Rania Horaitis has worked in the medical genetics and mutation detection community for several years in many varied capacities She began her career working with teams at the Commonwealth Scientific and Industrial Research Organisation CSIRO on the genetic engineering of a poultry vaccine in yeast During a stint at the Institute for Molecular Biology and Biotechnology in Heraklion Crete Greece she was involved in the sequencing of yeast chromosome XI and functional analysis of Chromosome XI genes On returning to Melbourne she joined Prof Richard Cotton s team and worked for several years at the Murdoch Institute for Research into Birth Defects on cloning and characterization of pterin anti idiotype antibodies From there she followed Prof Cotton to the Mutation Research Centre where she became Editorial Assistant for Human Mutation s former Australian Editorial Office She then became coordinator for the HUGO Mutation Database Initiative MDI that transformed into the Human Genome Variation Society HGVS During this period she became involved in the organisation of international meetings for the MDI HGVS and the Mutation Detection meetings After the inauguration of the Human Variome Project Rania continued to work in the organisation of meetings for the Human Variome Project Helen Robinson Liaison World Health Organisation This email address is being protected from spambots You need JavaScript enabled to view it Helen is a consultant to Human Variome Project on matters related to development of innovative health services growth of human genomics in low and middle income countries harmonizing efforts between countries for open ethical and sustainable health system responses to developments in human genomics She has 15 years experience with the UN system including ten years as a senior manager

    Original URL path: http://www.humanvariomeproject.org/about/international-coordinating-office.html (2016-02-10)
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  • Funding & Support - Human Variome Project
    database curators This vital work is undertaken by our Consortium members through the network of HVP Country Nodes and Gene Disease Specific Databases These data sharing resources are developed and operated by our members and are funded independently from a wide variety of sources including but not limited to research and infrastructure grants from funding agencies and philanthropic organisations in their respective countries and regions Details on the funding sources for individual resources and projects can be found on their respective websites Human Variome Project International Limited Human Variome Project International and the International Coordinating Office has been funded over the past years by the following groups Individual donors including Dame Elisabeth Murdoch Danks Family Cotton Family Harper Family Handbury Family James Cotton Julius Colman Trust Jane M Hellstrom JRS Cotton Philanthropic organisations including The Ian Potter Foundation The William Buckland Foundation The Scobie Claire Mackinnon Trust The White Foundation The Brent Foundation The CASS Foundation International organisations and governments including The Australian Federal Government The Victorian State Government Chinese Partnership CMO Global Institutions including Florey Institute of Neuroscience and Mental Health The University of Melbourne Since 2006 in excess of 6 million Dollars has been granted donated or provided

    Original URL path: http://www.humanvariomeproject.org/about/funding-support.html (2016-02-10)
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  • HVP Country Nodes - Human Variome Project
    that has been generated within each country and that enables the sharing of that information both nationally and internationally A governance structure that ensures that the work of the Node is both sustainable in the long term and is consistent with all relevant national and international ethical legal and social requirements and 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 and HVP standards The three components above enable HVP Country Nodes to carry out specific roles both within their country and internationally Taking an active role in ensuring that data on variation is easily shared among research institutes projects diagnostic laboratories and clinics Contributing to building the capacity for storing and sharing data responsibly within the field of medical genetics and genomics Monitoring and reporting on activities that will contribute to better targeting of healthcare planning and policy development and Sharing data between other HVP Country Nodes and international Gene Disease Specific Databases in the Human Variome Project Consortium Exactly how each HVP Country Node fulfils these roles is determined by each country and will be based on their unique mix of needs and capabilities All HVP Country Nodes should progressively increase their activities by seeking to expand and improve the quality of their data collection activities within the country and their networks with other researchers clinicians diagnosticians counsellors patient groups and relevant government officials both at the national level and in other countries Ultimately the data that is collected stored and shared should be of a quality appropriate for use in clinical settings Because HVP Country Node repositories contain information on patients and subjects every care must be taken to ensure that the data is collected and stored in a

    Original URL path: http://www.humanvariomeproject.org/activities/hvp-country-nodes.html (2016-02-10)
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  • Gene/Disease Specific Databases - Human Variome Project
    published literature direct submission by researchers and numerous other sources Critically these databases curate this information ensuring that it is of a consistently high quality The Human Variome Project recognises the importance of these databases but is also aware that they cover a limited region of the genome The Human Variome Project is working to expand these existing databases and also encourage the creation of new ones to eventually cover all 20 000 human genes Why do we Need Disease Specific Databases Gene disease specific databases have long been recognised as the best way to collect organise and share information on genetic variation and their effect on patients By limiting their scope to particular genes or diseases the database curators typically academic researchers whose works focus exclusively on the genes diseases in question are better able to assess the consequences of the sequence changes reported in the database As next generation sequencing becomes more prevalent expert oversight of this variety will take on an increasing importance Gene disease specific databases are also more able to identify and collect the clinical data that are of most use to the researchers and clinicians working with these genes and disorders Access to complete curated molecular and clinical information on the variations implicated in a particular disorder has a profound impact on the type of research that can be conducted into inherited diseases and will pave the way to more accurate diagnoses and treatments for these diseases Available Support The Human Variome Project is supporting the creation and operation of gene disease specific databases in a number of ways The Gene Disease specific Database Advisory Council which every database is entitled to appoint a representative to produces standards and guidelines in areas as diverse as nomenclature ethics and phenotype ontologies Training programmes and resources

    Original URL path: http://www.humanvariomeproject.org/activities/gene-disease-specific-databases.html (2016-02-10)
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