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In the past, Working Group brainstormed about topics to identify and define items for action in specific scientific domains. The Working Groups were comprised of representatives and researchers from projects that contributed to IRDiRC objectives. Please note that Working Groups were only in operation from 2013-2014. Information provided on this page is for historical/archival purposes, and members’ affiliation may have since changed.
Diagnostics Scientific Committee
Working Group on Genome/Phenome
Name | Title |
---|---|
Anthony Brookes (chair) | Professor, Department of Genetics, University of Leicester, Leicester, UK |
Kym Boycott | DSC member, Neurogeneticist and Investigator, Children's Hospital Eastern Ontario, Canada |
Han Brunner | DSC member, Professor, Nijmegen University Hospital, the Netherlands |
Xavier Estivill | DSC member, Senior Investigator and Coordinator, Genomic Regulation Centre, Barcelona, Spain |
Ada Hamosh | Professor, Department of Pediatrics and Institute of Genetic Medicine; Professor, Department of Epidemiology, Bloomberg School of Public Health, Baltimore, USA |
James Lupski | Professor of Molecular and Human Genetics, Department of molecular and human genetics, Baylor college of medicine, Houston, USA |
Yves Moreau | Professor of engineering, University of Leuven, Belgium |
George Patrinos | Assistant Professor, Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece |
Olaf Riess | Medical Director, Head of the Department of Medical Genetics, University of Tübingen, Tübingen, Germany |
Wei Wang | Deputy director, BGI Shenzhen, Chief Medical Officer, BGI Health, Shenzhen, China |
Working Group on Model System
Name | Title |
---|---|
Phil Hieter (chair) | Professor, Micheal Smith Laboratories, Department of Medical Genetics, British Columbia, Canada |
Philip Beales | Professor, Molecular Medicine Unit, UCL Institute of Child Health, London, UK |
Colin Fletcher | Program Director, The Knockout Mouse Project (KOMP), Division of Genome Sciences , National Human Genome Research Institute, Rockville, USA |
Martin Hrabě de Angelis | Chair of Experimental Genetics, Center of Life and Food Sciences Weihenstephan, Munich, Germany |
Nicholas Katsanis | Director of the Center for Human Disease Modeling, Professor of Cell Biology and Brumley Distinguished Professor of Pediatrics, Duke University, Durham, USA |
Colin McKerlie | Professor, Senior Associate Scientist, Research Institute, Physiology & Experimental Medicine, University of Toronto, Toronto, Canada |
Elizabeth McNeil | Scientific Programme Director, National Institute of Neurological Disorders and Stroke (NIH), USA |
Francesc Palau | Pediatrician, Medical geneticist, Research professor, Centre for Biomedical Network Research on Rare Diseases, Valencia, Spain |
Annette Schenck | Associate Professor, Radboud University Medical Centre, Nijmegen, Netherlands |
Working Group on Ontologies and Rare Disease Prioritization
Name | Title |
---|---|
Peter Robinson (chair) | Research scientist, Institute for Medical Genetics of the Charité, Berlin, Germany |
Michael Bamshad | DSC member, Professor, University of Washington, Seattle Children's Hospital, USA |
Michael Brudno | Associate Professor, Canada Research Chair in Computational Biology, University of Toronto, Hospital for Sick Children, Toronto, Canada |
Helen Firth | Consultant Clinical Geneticist, Cambridge University, Hospitals Trust, Cambridge, UK |
Melissa Haendel | Assistant Professor, Oregon Health & Science University, Portland, USA |
Ada Hamosh | Professor, Department of Pediatrics and Institute of Genetic Medicine; Professor, Department of Epidemiology, Bloomberg School of Public Health, Baltimore, USA |
Henrietta Hyatt-Knorr | Director, Office of Rare Diseases, Research National Institutes of Health, Bethesda, USA |
Janine Lewis | Sr. Project Manager, Genetic and Rare Diseases Information Center (GARD), Office of Rare Diseases Research (ORDR), NCATS, Bethesda, USA |
Suzanna Lewis | Staff Scientist, Life Sciences Division, Genome Dynamics Department, Lawrence Berkeley National Laboratory, USA |
Christopher J. Mungall | Bioinformatics scientist, Lawrence Berkeley National Laboratory, USA |
Helen Parkinson | Research Associate, EMBL-European Bioinformatics Institute, Cambridge, UK |
Ana Rath | Head of the Editorial and the Rare Diseases Database departments, Orphanet, INSERM, Paris, France |
Yaffa Rubinstein | Director, Patient Resources for Clinical and Translational Research Office, Rare Diseases Research National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, Bethesda, USA |
Pak-Chung Sham | Director, Centre for Genomic Sciences, Vice-chair of the Chinese Rare Disease Research Consortium, Hong-Kong, China |
Damian Smedley | Mouse Informatics Project Leader, EBI, UK |
María Jesús Sobrido | M.D., PhD, Neurogenetics Group, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain |
María Jesús Taboada Iglesias | Associate Professor in Computer Science and Artificial Intelligence, Department of Electronics and computer Sciences, University of Santiago de Compostela, Spain |
Sharon Terry | President and CEO of Genetic Alliance, USA |
Working Group on Population Controls Variant Datasets
Name | Title |
---|---|
Xavier Estivill (Chair) | Senior Investigator and Coordinator, Genomic Regulation Centre, Barcelona, Spain |
Fahd Al-Mulla | Director of Genatak, Head of Molecular Pathology, Faculty of Medicine, Kuwait University, Kuwait |
Michael Brudno | Associate Professor, Canada Research Chair in Computational Biology, University of Toronto, Hospital for Sick Children, Toronto, Canada |
Hidewaki Nakagawa | MD, PhD, Team Leader, RIKEN Center for Integrative Medical Sciences, Lab for Genome Sequencing Analysis, Tokyo, Japan |
Tayfun Özçelik | Professor of human genetics, Department of Molecular Biology and Genetics, Faculty of Science, Bilkent University, Ankara,Turkey |
Woong-Yang Park | Director, Samsung Genome Institute, South Korea |
Justin Paschall | Team leader, Variation team, EBI, Cambridge, United Kingdom |
Peter Robinson | Research scientist, Institute for Medical Genetics of the Charité, Berlin, Germany |
Pak-Chung Sham | Director, Centre for Genomic Sciences, Vice-chair of the Chinese Rare Disease Research Consortium, Hong-Kong, China |
Jun Wang | Professor of Genomics and Bioinformatics, Director, BGI, China |
Working Group on Sequencing
Name | Title |
---|---|
Ivo Gut (chair) | Director, Centre Nacional d'Anàlisi Genòmica, Barcelona, Spain |
Gert Matthijs | DSC member, Head of Laboratory, University Hospital Leuven, Belgium |
Peter Bauer | Medical Specialist for Human Genetics, Head of Genomics Unit, Head of Molecular Genetic Diagnostics, Head of Core Unit for Applied Genomics, University of Tübingen, Tübingen, Germany |
Christophe Béroud | Assistant Professor of Genetics, head of the bioinformatics team, UMR S 910 research unit, Aix-Marseille University Medical School, Marseille, France |
Christine Eng | Professor of Molecular and Human Genetics, Baylor College of Medicine; Director, DNA Diagnostic Laboratory, BCM Medical Genetics Laboratories; Director, Storage Disorders Clinic, Houston, USA |
Tina Hambuch | Assistant Professor, Ludwig-Maximillians University of Munich, Germany; Associate director, Illumina laboratory, San Diego, USA |
Jacek Majewski | Associate Professor, Genome Quebec Innovation Centre, Department of Human Genetics, McGill University, Montreal, Canada |
Woong-Yang Park | Director, Samsung Genome Institute, Korea |
Heidi Rehm | Assistant Professor of Pathology, HMS; Director, ABMG Clinical Molecular Genetics Training Program, Boston, USA |
Steven Van Vooren | Sales Director EU of Cartagenia, Leuven, Belgium |
Xun Xu | Deputy Director of BGI-Shenzhen, Shenzhen, China |
Interdisciplinary Scientific Committee
Working Group on Biobanks
Name | Title |
---|---|
Mats Hansson | Professor of Biomedical Ethics, Director, Centre for Research Ethics & Bioethics, Uppsala University, Sweden |
Veronika Karcagi | Head of Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health, Budapest, Hungaria |
Alastair Kent | Director, Genetic Alliance, UK |
Jan-Eric Litton | Professor, Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Karolinska, Sweden |
Hanns Lochmüller | Professor, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK |
Marina Mora | Biobank Director, Head of Muscle Cell Biology Laboratory, Istituto Neurologico Carlo Besta, Fondazione IRCCS, Milan, Italy |
Yaffa Rubinstein | Director, Patient Resources for Clinical and Translational Research Office, Rare Diseases Research National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, Bethesda, USA |
Susan Wallace | Lecturer of Population & Public Health Sciences, Department of Health Sciences, University of Leicester, Leicester, UK |
Nikolajs Zeps | Adjunct Associate Professor, Colorectal Cancer Research Unit, University of Western Australia, Crawley, Australia |
Working Group on Data Sharing and Bioinformatics
Name | Title |
---|---|
Angel Carracedo (Co-chair) | Member of the ISC, Professor, University of Santiago de Compostela, Santiago de Compostela, Spain |
Jeffrey Krischer (Co-chair) | Member of the ISC, Professor, University of South Florida, Tampa, USA |
Matthew Bellgard | Director, Centre for Comparative Genomics, Perth, Australia |
Eric Boerwinkle | Professor, School of Public Health; Director, IMM Center for Human Genetics, Houston, USA |
Anthony Brookes | Professor, Department of Genetics, University of Leicester, Leicester, UK |
Ivo Gut | Director, Centre Nacional d'Anàlisi Genòmica, Barcelona, Spain |
Matthew Hurles | Researcher, Wellcome Trust Sanger Institute, Cambridge, UK |
Jacek Majewski | Associate Professor, Genome Quebec Innovation Centre, Department of Human Genetics, McGill University, Montreal, Canada |
Barend Mons | Associate Professor, Department of Medical Informatics, Erasmus Medical Centre, University of Rotterdam; and Department of Human Genetics, Leiden University Medical Centre, Netherlands |
Deborah Nickerson | Professor, University of Washington, Washington, USA |
George Patrinos | Assistant Professor, Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece |
Rachel Richesson | Associate Professot, Duke University School of Nursing, Durham, USA |
David Salgado | Research Engineer, Aix-Marseille University Medical School, Marseille, France |
Andreas Zankl | Associate Professor, University of Queensland, Queensland, Australia |
Working Group on Ethics and Governance
Name | Title |
---|---|
Jack Goldblatt (Co-chair) | Member of the ISC, Director, Genetic Services and the Familial Cancer Program of Western Australia, Perth, Australia |
Bartha Maria Knoppers (Co-chair) | Member of the ISC. Director, Centre of Genomics and Policy, McGill University, Canada |
Megan Fookes | Executive Director, Rare Voices, Sydney, Australia |
Ingrid Holm | Director, Phenotype Core of the Program in Genomics, Children's Hospital, Boston, USA; Assistant Professor of Pediatrics, Harvard Medical School, USA |
Nils Hoppe | Director, Centre for Ethics and Law in the Life Sciences, Hannover, Germany |
Matthias Kretzler | Internal Medicine Research Professor, Computational Medicine and Biology, University of Michigan, Ann Arbor, USA |
Marie-Christine Ouillade | Board of directors, Association Française contre les Myopathies, Paris, France |
Emmanuelle Rial-Sebbag | Lawyer, INSERM Unit 1027, Toulouse, France |
Tsveta Schyns | Coordinator, European Network for Research on Alternating Hemiplegia, Vienna, Austria |
David Townend | Associate Professor, Law of Public Health and Care, Faculty of Health, Medicine and Life Sciences, Maastricht, Netherlands |
Simon Woods | Senior Lecturer, Co-Director, Policy Ethics and Life Sciences Research Centre, Newcastle University, Newcastle, UK |
Kurt Zatloukal | Professor, Medical University of Graz, Graz, Austria |
Working Group on Registries and Natural History
Name | Title |
---|---|
Domenica Taruscio (Chair) | Member of the ISC, Director, Italian National Centre for Rare Diseases, Italy |
Liz Donohue Wheeler (Co-chair) | Director, Coordination of Rare Diseases at Sanford (CoRDS), Sanford Research, Sioux Falls, USA |
Anna Ambrosini | Research Program Manager, Telethon Foundation, Milan, Italy |
Odile Boespflug-Tanguy | Coordinator, Investigator, Service de neurologie pédiatrique et des maladies métaboliques, CHU Paris - Hospital Robert Debré, Paris, France |
Kyle Brown | Founder of PatientCrossroads, San Mateo, USA |
Joshua Burns | Associate Professor, University of Sydney. Head of Clinical Research, Institute for Neuroscience and Muscle Research, The Children’s Hospital, Westmead; Director, Paediatric Gait Analysis Service of NSW, Sydney Children’s Hospital Network (Randwick and Westmead), Sydney, Australia |
Jan Friedman | Senior Clinician Scientist, CFRI; Professor, University of British Columbia, Columbia, Canada |
Stephen Groft | Ex-Director, Office of Rare Diseases Research, NCATS, USA |
Micheil Innes | Associate Professor, Department of Medical Genetics, Faculty of Medicine, University of Calgary, Canada |
Anna Kole | Public Health Project Coordinator, Eurordis, Paris, France |
Eugenio Mercuri | Associate Professor in Pediatric Neurology, Università Cattolica del Sacro Cuore, Telethon Foundation, Cremona, Italy |
Hélène Moussu | Genetic & clinical databases project manager, Association Française contre les Myopathies, France |
Samantha Parker | Member of ISC, Chief Patient Access/Public Affairs Officer, Lysogene, France |
Manuel Posada | Director, Institute of Rare Diseases Research, Instituto de Salud Carlos III, Madrid, Spain |
Yaffa Rubinstein | Director, Patient Resources for Clinical and Translational Research Office, Rare Diseases Research National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, Bethesda, USA |
Rumen Stefanov | Professor, Dean, Faculty of public health, Medical University of Plovdiv, Plovdiv, Bulgary |
Marshall Summar | Division Chief, Children's National Medical Center, Professor at George Washington University, School of Medicine and Health Sciences, Washington, USA |
Bernhard Zabel | Coordinator, Freiburg Zentrum für Seltene Erkrankungen, Geschäftsstelle SKELNET e.V., Freiburg, Germany |
Cornelia Zeidler | Coordinator, Zentrum für Seltene Erkrankungen , Klinik für Pädiatrische Hämatologie und Onkologie, SCNIR - Europazentrale, Hannover, Germany |
Therapies Scientific Committee
Working Group on Biomarkers for Disease Progression and Therapy Response
Name | Title |
---|---|
Alessandra Ferlini (Chair) | Associate Professor, Medical Genetics Ferrara University, Italy |
Gillian Butler-Browne | Team responsible, Myology Institute, INSERM, France |
Giles Campion | Senior Vice President, Prosensa, Netherlands |
Marlene Haffner | Director, Office of Orphan Products Development, FDA, Haffner Associates, LLC, USA |
Spiros Vamvakas | Principal Scientific Administrator, Scientific Advice and Orphan Drugs Sector, EMA, European Union |
David Wishart | Professor, University of Alberta, USA |
Working Group on Biotechnology-Derived Products Including Cell- and Gene-Based Therapies
Name | Title |
---|---|
Gert-Jan van Ommen (Chair) | Professor, Leiden University Medical Centre, Netherlands |
Annemieke Aartsma-Rus | Associate Professor, Head of exon skipping group, Leiden University Medical center, Netherlands |
Katherine High | Director, Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadephia, USA |
Geraldine Honnet | Director of Clinical Development, Genethon, France |
John Hyde | Medical Officer, FDA, USA |
Ian MacDonald | Professor and Chair Chief of Ophthalmology, University of Alberta, Canada |
Franz Schaefer | Professor of Pediatrics, Chief of the Pediatric Nephrology division, Heildelberg University Hospital, Germany |
Daniel Scherman | Biomedical expert in Pharmacology & Toxicology and Molecular Biology & Genetics, ERA-NET, France |
Jacques P. Tremblay | Professor, Molecular Medicine Department, Laval University, Canada |
Spiros Vamvakas | Principal Scientific Administrator, Scientific Advice and Orphan Drugs Sector, EMA, European Union |
Elizabeth Vroom | President of the Dutch Duchenne Parent Project, Chair of the United Parent Projects Muscular Dystrophy (UPPMD), European Union |
Working Group on Chemically-Derived Products Including Repurposing
Name | Title |
---|---|
Frederic Marin (Co-chair) | Chief Executive Officer, GMP-Orphan, France |
Ramaiah Muthyala (Co-chair) | Associate Director, Center for Orphan Drug Development, College of pharmacy, University of Minnesota, USA |
Diego di Bernardo | Director, Systems Biology and Functional Genomics (SBFG) Research Programme, Telethon Institute of Genetics and Medicine (TIGEM), Italy |
Virginie Hivert | Therapeutic Development Director, EURORDIS, France |
Christopher McMaster | Senior Investigator at the Atlantic Research Centre, Professor (Pharmacology), Canada Research Chair in Biosignalling, Dalhousie University, Canada |
May Orfali | Senior Director, Rare Disease Global Medical lead, MDG, SCBU, Pfizer Inc., USA |
Karin Rademaker | Head of sub-department Research & Development and Education of the Department Clinical Pharmacy, University Medical Centre, Utrecht, Netherlands |
Nicolas Sireau | Chairman, AKU Society, European Union |
Stelios Tsigkos | Scientific Officer, Human Medicines Research and Development Support Division, Product Development Scientific Support Department, Orphan Medicines Office, EMA, European Union |
Working Group on Orphan Drug-Development and Regulatory Processes
Name | Title |
---|---|
Jordi Llinares (Co-chair) | Head of orphan medicines, EMA, UK |
Jonathan C. Goldsmith (Co-chair) | MD, Medical Officer, Rare Diseases Program/Office of New Drugs/CDER/FDA |
Didier Caizergues | Director, Regulatory Affairs, Genethon, France |
Lucia Faccio | Head of Technology Transfer & Program Development, Research Development, Telethon Foundation, Scientific Office, Italy |
Anthony Hall | Principal Consultant at CUDOS, Co-founder of Findacure, Netherlands |
Wills Hughes-Wilson | Chief Patient Access Officer, Vice President External Affairs, Swedish Orphan Biovitrum AB (Sobi), Belgium |
Yann Le Cam | Chief Executive Officer, EURORDIS, France |
David K. Lee | Director, Office of Legislative and Regulatory Modernization, Canada |
Debra Lewis | Director, OOPD, FDA, USA |
Agnès Mathieu | Legal officer, DG Sanco, European Medicines Agency, Belgium |
Olivia Maurel | Vice-President, Global Therapeutic Area Head, Rare Disease Business Unit, Global Regulatory Affairs, Shire, Ireland |
Devidas Menon | Professor, University of Alberta, Canada |
Bruno Sepodes | EMA, COMP, Professor of Pharmacology at the University of Lisbon, European Union |
Janice Soreth | Deputy Director, Office of Special Medical Program, FDA, USA |