Members of Working Groups

Diagnostics Scientific Committee

Working Group on Genome/Phenome

NameTitle
Anthony Brookes (chair)Professor, Department of Genetics, University of Leicester, Leicester, UK
Kym BoycottDSC member, Neurogeneticist and Investigator, Children's Hospital Eastern Ontario, Canada
Han BrunnerDSC member, Professor, Nijmegen University Hospital, the Netherlands
Xavier EstivillDSC member, Senior Investigator and Coordinator, Genomic Regulation Centre, Barcelona, Spain
Ada HamoshProfessor, Department of Pediatrics and Institute of Genetic Medicine; Professor, Department of Epidemiology, Bloomberg School of Public Health, Baltimore, USA
James LupskiProfessor of Molecular and Human Genetics, Department of molecular and human genetics, Baylor college of medicine, Houston, USA
Yves MoreauProfessor of engineering, University of Leuven, Belgium
George PatrinosAssistant Professor, Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece
Olaf RiessMedical Director, Head of the Department of Medical Genetics, University of Tübingen, Tübingen, Germany
Wei WangDeputy director, BGI Shenzhen, Chief Medical Officer, BGI Health, Shenzhen, China

Working Group on Model Systems

NameTitle
Phil Hieter (chair)Professor, Micheal Smith Laboratories, Department of Medical Genetics, British Columbia, Canada
Philip BealesProfessor, Molecular Medicine Unit, UCL Institute of Child Health, London, UK
Colin FletcherProgram Director, The Knockout Mouse Project (KOMP), Division of Genome Sciences , National Human Genome Research Institute, Rockville, USA
Martin Hrabě de AngelisChair of Experimental Genetics, Center of Life and Food Sciences Weihenstephan, Munich, Germany
Nicholas KatsanisDirector of the Center for Human Disease Modeling, Professor of Cell Biology and Brumley Distinguished Professor of Pediatrics, Duke University, Durham, USA
Colin McKerlieProfessor, 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 PalauPediatrician, Medical geneticist, Research professor, Centre for Biomedical Network Research on Rare Diseases, Valencia, Spain
Annette SchenckAssociate Professor, Radboud University Medical Centre, Nijmegen, Netherlands

Working Group on Ontologies and Rare Disease Prioritization

NameTitle
Peter Robinson (chair)Research scientist, Institute for Medical Genetics of the Charité, Berlin, Germany
Michael BamshadDSC member, Professor, University of Washington, Seattle Children's Hospital, USA
Michael BrudnoAssociate Professor, Canada Research Chair in Computational Biology, University of Toronto, Hospital for Sick Children, Toronto, Canada
Helen FirthConsultant Clinical Geneticist, Cambridge University, Hospitals Trust, Cambridge, UK
Melissa HaendelAssistant Professor, Oregon Health & Science University, Portland, USA
Ada HamoshProfessor, Department of Pediatrics and Institute of Genetic Medicine; Professor, Department of Epidemiology, Bloomberg School of Public Health, Baltimore, USA
Henrietta Hyatt-KnorrDirector, Office of Rare Diseases, Research National Institutes of Health, Bethesda, USA
Janine LewisSr. Project Manager, Genetic and Rare Diseases Information Center (GARD), Office of Rare Diseases Research (ORDR), NCATS, Bethesda, USA
Suzanna LewisStaff Scientist, Life Sciences Division, Genome Dynamics Department, Lawrence Berkeley National Laboratory, USA
Christopher J. MungallBioinformatics scientist, Lawrence Berkeley National Laboratory, USA
Helen ParkinsonResearch Associate, EMBL-European Bioinformatics Institute, Cambridge, UK
Ana RathHead of the Editorial and the Rare Diseases Database departments, Orphanet, INSERM, Paris, France
Yaffa RubinsteinDirector, 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 ShamDirector, Centre for Genomic Sciences, Vice-chair of the Chinese Rare Disease Research Consortium, Hong-Kong, China
Damian SmedleyMouse 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 IglesiasAssociate Professor in Computer Science and Artificial Intelligence, Department of Electronics and computer Sciences, University of Santiago de Compostela, Spain
Sharon TerryPresident and CEO of Genetic Alliance, USA

Working Group on Population Controls Variant Datasets

NameTitle
Xavier Estivill (Chair)Senior Investigator and Coordinator, Genomic Regulation Centre, Barcelona, Spain
Fahd Al-MullaDirector 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 NakagawaMD, PhD, Team Leader, RIKEN Center for Integrative Medical Sciences, Lab for Genome Sequencing Analysis, Tokyo, Japan
Tayfun ÖzçelikProfessor of human genetics, Department of Molecular Biology and Genetics, Faculty of Science, Bilkent University, Ankara,Turkey
Woong-Yang ParkDirector, Samsung Genome Institute, South Korea
Justin PaschallTeam leader, Variation team, EBI, Cambridge, United Kingdom
Peter RobinsonResearch scientist, Institute for Medical Genetics of the Charité, Berlin, Germany
Pak-Chung ShamDirector, Centre for Genomic Sciences, Vice-chair of the Chinese Rare Disease Research Consortium, Hong-Kong, China
Jun WangProfessor of Genomics and Bioinformatics, Director, BGI, China

Working Group on Sequencing

NameTitle
Ivo Gut (chair)Director, Centre Nacional d'Anàlisi Genòmica, Barcelona, Spain
Gert MatthijsDSC member, Head of Laboratory, University Hospital Leuven, Belgium
Peter BauerMedical 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 BéroudAssistant Professor of Genetics, head of the bioinformatics team, UMR S 910 research unit, Aix-Marseille University Medical School, Marseille, France
Christine EngProfessor of Molecular and Human Genetics, Baylor College of Medicine; Director, DNA Diagnostic Laboratory, BCM Medical Genetics Laboratories; Director, Storage Disorders Clinic, Houston, USA
Tina HambuchAssistant Professor, Ludwig-Maximillians University of Munich, Germany; Associate director, Illumina laboratory, San Diego, USA
Jacek MajewskiAssociate Professor, Genome Quebec Innovation Centre, Department of Human Genetics, McGill University, Montreal, Canada
Woong-Yang ParkDirector, Samsung Genome Institute, Korea
Heidi RehmAssistant Professor of Pathology, HMS; Director, ABMG Clinical Molecular Genetics Training Program, Boston, USA
Steven Van VoorenSales Director EU of Cartagenia, Leuven, Belgium
Xun XuDeputy Director of BGI-Shenzhen, Shenzhen, China

 

Interdisciplinary Scientific Committee

Working Group on Biobanks

NameTitle
Mats HanssonProfessor of Biomedical Ethics, Director, Centre for Research Ethics & Bioethics, Uppsala University, Sweden
Veronika KarcagiHead of Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health, Budapest, Hungaria
Alastair Kent Director, Genetic Alliance, UK
Jan-Eric LittonProfessor, Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Karolinska, Sweden
Hanns LochmüllerProfessor, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
Marina MoraBiobank Director, Head of Muscle Cell Biology Laboratory, Istituto Neurologico Carlo Besta, Fondazione IRCCS, Milan, Italy
Yaffa RubinsteinDirector, 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 WallaceLecturer of Population & Public Health Sciences, Department of Health Sciences, University of Leicester, Leicester, UK
Nikolajs ZepsAdjunct Associate Professor, Colorectal Cancer Research Unit, University of Western Australia, Crawley, Australia

Working Group on Data Sharing and Bioinformatics

NameTitle
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 BellgardDirector, Centre for Comparative Genomics, Perth, Australia
Eric BoerwinkleProfessor, School of Public Health; Director, IMM Center for Human Genetics, Houston, USA
Anthony BrookesProfessor, Department of Genetics, University of Leicester, Leicester, UK
Ivo GutDirector, Centre Nacional d'Anàlisi Genòmica, Barcelona, Spain
Matthew HurlesResearcher, Wellcome Trust Sanger Institute, Cambridge, UK
Jacek MajewskiAssociate Professor, Genome Quebec Innovation Centre, Department of Human Genetics, McGill University, Montreal, Canada
Barend MonsAssociate Professor, Department of Medical Informatics, Erasmus Medical Centre, University of Rotterdam; and Department of Human Genetics, Leiden University Medical Centre, Netherlands
Deborah NickersonProfessor, University of Washington, Washington, USA
George PatrinosAssistant Professor, Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece
Rachel RichessonAssociate Professot, Duke University School of Nursing, Durham, USA
David SalgadoResearch Engineer, Aix-Marseille University Medical School, Marseille, France
Andreas ZanklAssociate Professor, University of Queensland, Queensland, Australia

Working Group on Ethics and Governance

NameTitle
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 FookesExecutive Director, Rare Voices, Sydney, Australia
Ingrid HolmDirector, Phenotype Core of the Program in Genomics, Children's Hospital, Boston, USA; Assistant Professor of Pediatrics, Harvard Medical School, USA
Nils HoppeDirector, Centre for Ethics and Law in the Life Sciences, Hannover, Germany
Matthias KretzlerInternal Medicine Research Professor, Computational Medicine and Biology, University of Michigan, Ann Arbor, USA
Marie-Christine OuilladeBoard of directors, Association Française contre les Myopathies, Paris, France
Emmanuelle Rial-SebbagLawyer, INSERM Unit 1027, Toulouse, France
Tsveta SchynsCoordinator, European Network for Research on Alternating Hemiplegia, Vienna, Austria
David TownendAssociate Professor, Law of Public Health and Care, Faculty of Health, Medicine and Life Sciences, Maastricht, Netherlands
Simon WoodsSenior Lecturer, Co-Director, Policy Ethics and Life Sciences Research Centre, Newcastle University, Newcastle, UK
Kurt ZatloukalProfessor, Medical University of Graz, Graz, Austria

Working Group on Registries and Natural History

NameTitle
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-TanguyCoordinator, Investigator, Service de neurologie pédiatrique et des maladies métaboliques, CHU Paris - Hospital Robert Debré, Paris, France
Kyle BrownFounder of PatientCrossroads, San Mateo, USA
Joshua BurnsAssociate 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 FriedmanSenior Clinician Scientist, CFRI; Professor, University of British Columbia, Columbia, Canada
Stephen GroftEx-Director, Office of Rare Diseases Research, NCATS, USA
Micheil InnesAssociate Professor, Department of Medical Genetics, Faculty of Medicine, University of Calgary, Canada
Anna KolePublic Health Project Coordinator, Eurordis, Paris, France
Eugenio MercuriAssociate Professor in Pediatric Neurology, Università Cattolica del Sacro Cuore, Telethon Foundation, Cremona, Italy
Hélène MoussuGenetic & clinical databases project manager, Association Française contre les Myopathies, France
Samantha ParkerMember of ISC, Chief Patient Access/Public Affairs Officer, Lysogene, France
Manuel PosadaDirector, Institute of Rare Diseases Research, Instituto de Salud Carlos III, Madrid, Spain
Yaffa RubinsteinDirector, 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 StefanovProfessor, Dean, Faculty of public health, Medical University of Plovdiv, Plovdiv, Bulgary
Marshall SummarDivision Chief, Children's National Medical Center, Professor at George Washington University, School of Medicine and Health Sciences, Washington, USA
Bernhard ZabelCoordinator, Freiburg Zentrum für Seltene Erkrankungen, Geschäftsstelle SKELNET e.V., Freiburg, Germany
Cornelia ZeidlerCoordinator, 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

NameTitle
Alessandra Ferlini (Chair)Associate Professor, Medical Genetics Ferrara University, Italy
Gillian Butler-BrowneTeam responsible, Myology Institute, INSERM, France
Giles CampionSenior 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 WishartProfessor, University of Alberta, USA

Working Group on Biotechnology-Derived Products Including Cell- and Gene-Based Therapies

NameTitle
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 HighDirector, Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadephia, USA
Geraldine HonnetDirector of Clinical Development, Genethon, France
John Hyde Medical Officer, FDA, USA
Ian MacDonaldProfessor and Chair Chief of Ophthalmology, University of Alberta, Canada
Franz SchaeferProfessor 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. TremblayProfessor, Molecular Medicine Department, Laval University, Canada
Spiros VamvakasPrincipal Scientific Administrator, Scientific Advice and Orphan Drugs Sector, EMA, European Union
Elizabeth VroomPresident 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

NameTitle
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 HivertTherapeutic Development Director, EURORDIS, France
Christopher McMasterSenior Investigator at the Atlantic Research Centre, Professor (Pharmacology), Canada Research Chair in Biosignalling, Dalhousie University, Canada
May OrfaliSenior Director, Rare Disease Global Medical lead, MDG, SCBU, Pfizer Inc., USA
Karin RademakerHead of sub-department Research & Development and Education of the Department Clinical Pharmacy, University Medical Centre, Utrecht, Netherlands
Nicolas SireauChairman, 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

NameTitle
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 HallPrincipal Consultant at CUDOS, Co-founder of Findacure, Netherlands
Wills Hughes-WilsonChief Patient Access Officer, Vice President External Affairs, Swedish Orphan Biovitrum AB (Sobi), Belgium
Yann Le CamChief Executive Officer, EURORDIS, France
David K. Lee Director, Office of Legislative and Regulatory Modernization, Canada
Debra Lewis Director, OOPD, FDA, USA
Agnès MathieuLegal officer, DG Sanco, European Medicines Agency, Belgium
Olivia MaurelVice-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 SorethDeputy Director, Office of Special Medical Program, FDA, USA