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Chairs: Garry Cutting & Sir John Burn 
HVP ICO contact: Amy McAllister
Creation date: 2010

Scope

The International Scientific Advisory Committee leads the Project in matters of strategic scientific direction for current and future activities. The International Scientific Advisory Committee is also responsible for oversseing the development and publication of all HVP Standards and Guidelines, as well as the arbitration of the dispute resolution process.

The International Scientific Advisory Committee meets on a face–to–face basis at least once per year, usually in conjunction with America Society of Human Genetics annual meeting, and monthly via teleconference.

Members

The voting members of the International Scientific Advisory Committee members are elected by the two Advisory Councils (six members from each Council) every two years, with half the positions on the Committee becoming vacant every two years. The Committee can co-opt as many non-voting individuals onto the Committe as it sees fit. The Chair of the International Scientific Advisory Committee is appointed from among the members of the International Scientific Advisory Committee. Voting membership of the Committee, in an ex-officio capacity, is also extended to:

Any Individual Member of the Human Variome Project Consortium is eligible to stand for election to the International Scientific Advisory Committee. Candidates must be nominated and seconded by a member of either of the Advisory Councils.

Voting Members

Sir John Burn (co-Chair) Newcastle University United Kingodom UK 2011
Garry Cutting (co-Chair) Johns Hopkins School of Medicine United States of America USA 2013
Raymond Dalgleish University of Leicester United Kingodom UK 2013
Jordan Lerner-Ellis Mount Sinai Hospital  CA Canada 2013
Finlay Macrae The Royal Melbourne Hospital Australia Australia 2010
Ming Qi Zhejiang University Medical School China China 2012
Raj Ramesar University of Cape Town South Africa South Africa 2013
Juergen Reichardt James Cook University AU Australia 2015
Peter Taschner Leiden University Medical Center The Netherlands The Netherlands 2013
Mauno Vihinen Lund University Sweden Sweden 2010
Michael Watson American College of Medical Genetics and Genomics The United States of America USA 2013
Martina Witsch-Baumgartner Medizinische Universität Innsbruck Austria Austria 2013

Non-voting Members

Arleen Auerbach The Rockefeller University The United States of America USA 2010
Qasim Ayub Wellcome Trust Sanger Institute United Kingodom UK 2014
Mireille Claustres IURC, Institut Universitaire Clinical Research France France 2010
Collet Dandara University of Cape Town South Africa South Africa 2014
Johan T. den Dunnen Leiden University Medical Center The Netherlands The Netherlands 2010
Mona El-Ruby National Research Centre Egypt Egypt 2010
Aída Falcón de Vargas Venezuelan Central University Venezuela Venezuela 2010
Marc Greenblatt (HGVS President) University of Vermont United States of America USA 2010
Ada Hamosh McKusick-Nathans Institute for Genetic Medicine The United States of America USA 2014
Helena Kääriäinen (IFHGS President) National Institute for Health and Welfare FI Finland 2015
Dhavendra Kumar University Hospital of Wales United Kingodom UK 2014
Rita Inés Noher de Halac National University of Cordoba Argentina Argentina 2014
Heidi Rehm Harvard Medical School The United States of America USA 2014
Augusto Rojas Martínez Universidad Autónoma de Nuevo León Mexico Mexico 2014
Katsushi Tokunaga University of Tokyo Japan Japan 2014
Thomas Weber Department of Veterans Affairs New York Harbor Healthcare System The United States of America USA 2014
Ingrid Winship University of Melbourne Australia Australia 2014

Former Members

Richard Cotton University of Melbourne Australia Australia 2010-2014
Stephen Lam Hong Kong Department of Health Hong Kong Hong Kong 2010-2014
Donna Maglott National Center for Biotechnology Information United States of America USA 2013-2015
Yoichi Matsubara Tohoku University School of Medicine Japan Japan 2010-2012
Gert-Jan van Ommen Leiden University Medical Center The Netherlands The Netherlands 2010-2013
David Rimoin Cedars-Sinai The United States of America USA 2010-2012

Meeting Calendar

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, systems and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease. Established in 2010, the Committee oversees the Human Variome Project's scientific development, assists in recruiting new Human Variome Project partners, promotes the participation in and use of Human Variome Project at meetings and conferences, and recommends goals for the Project.

Each International Scientific Advisory Committee member is expected to:

  • be fully versed in the goals and objectives of the Human Variome Project;
  • actively participate in all Human Variome Project activities and events, including regular attendance at Advisory Committee meetings;
  • serve on one or more Advisory Committee strategic planning groups (when requested or consistent with his/her area of expertise) to promote and stimulate specific aspects of Human Variome Project marketing or development;
  • adhere to and assist in generating HVP Standards and Guidelines and educate others, as well as public and private organizations, about what it means to be a Human Variome Project participant;
  • be accessible to Human Variome Project Coordinating Office staff for periodic inquiries concerning Human Variome Project business;
  • work within his/her state, country or organization to secure in-kind services or related resources that may be required to address Human Variome Project priorities;
  • maintain a proactive role in Human Variome Project operations, including provision of advice, support and feedback on all aspects of Human Variome Project activities, including content development, marketing and the application of new technologies;
  • make suggestions to Human Variome Project Coordinating Office staff regarding ideas for projects, grant proposals and/or collaborations; and
  • identify potential supporters for Human Variome Project.