Position: Technical Director Assistant of the BNADN
Organisation: National DNA Bank-Carlos III. University of Salamanca
Area of work: Biobanks
Position: Head of Human Genetic Branch. Area Manager
Organisation: Instituto de Salud Carlos III
Area of work: Biobanks, Registries
Position: Head of RD Epidemiological Unit
Organisation: Instituto de Salud Carlos III
Area of work: Biobanks, Registries
Position: Director Neuromuscular Bank
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks
Position: RD-Connect Science Communication and Impact Coordinator
Organisation: Newcastle University
Area of work: Impact
Position: Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks
Position: Research Fellow; Dept. of Medical Ethics and History of Medicine
Organisation: University Medical Center Göttingen
Area of work: Ethical Legal Social Issues
Position: Professor
Organisation: Centre for Comparative Genomics, Murdoch University
Area of work: Bioinformatics
Position: Bioinformatics Analysis Group Leader Data Analysis Team Leader
Organisation: Centro Nacional de Análisis Genómico
Area of work: Genomics Platform
Position: Assistant Professor of Genetics, head of the bioinformatics team at the UMR_S 910 research unit
Organisation: Aix-Marseille University Medical School
Area of work: Bioinformatics
Position: Professor of Clinical Biochemistry
Organisation: University of Zurich
Area of work: Biobanks
Position: CEO
Organisation: Interactive Biosoftware
Area of work: Bioinformatics
Position: ELIXIR Director
Organisation: ELIXIR
Area of work: Management
Position: Medical Geneticist, Regional Genetics Program Investigator, CHEO Research Institute Associate Professor, University of Ottawa
Organisation: CARE4RARE
Position: Director
Organisation: Association Française contre les Myopathies (AFM)
Position: Senior Researcher
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries
Position: Professor in Bioinformatics and Genomics
Organisation: University of Leicester
Position: Research Infrastructure Project Manager
Organisation: EURORDIS – Rare Diseases Europe
Area of work: Patient engagement
Position: Principal Investigator
Organisation: The Centre for Computational Medicine, Hospital for Sick Children, Toronto
Area of work: Data linkage
Position: Professor of Neuromuscular Genetics
Organisation: Newcastle University
Area of work: Impact
Position: Researcher
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries
Position: Professor at K.U.Leuven
Organisation: Jean-Jacques Cassiman
Area of work: Management
Position: Full-time Senior Researcher (1st class)
Organisation: Aix-Marseille University Medical School
Area of work: Bioinformatics
Position: Biobank Coordinator
Organisation: Centre for Biomedical Network Research on Rare Diseases
Area of work: Biobanks
Position: Director
Organisation: Office of Population Health Genomics (OPHG)
Area of work: Bioinformatics, Registries
Position: Communications & Data Helpdesk Coordinator at RD-Connect
Organisation: Newcastle University
Area of work: Genomics Platform, Impact
Position: Member of DHAG , DHAG-Representative for Neuromics Project
Organisation: Deutsche-Heredo-Ataxie-Gesellschaft (DHAG)
Area of work: Patient engagement
Position: Consultant
Organisation: Finovatis
Area of work: Management
Position: Director, NGRL Manchester
Organisation: National Genetics Reference Laboratory Manchester
Area of work: Bioinformatics
Position: Regional Delegate in charge of International Affairs
Organisation: Fondation Maladies Rares
Area of work: Impact
Position: Professor
Organisation: University of Malta
Area of work: Biobanks, Ethical Legal Social Issues, Impact
Position: Researcher at BSC
Organisation: Barcelona Supercomputing Center (BSC)
Area of work: Genomics Platform
Position: TNGB Coordinator and Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks
Position: Research Support Officer I/ BioBank Assistant
Organisation: University of Malta
Area of work: Biobanks, Ethical Legal Social Issues, Impact
Position: Team Leader and Senior Scientist
Organisation: European Bioinformatics Institute
Area of work: Bioinformatics
Position: Project Leader
Organisation: Karolinska Institutet
Area of work: Biobanks
Position: Researcher
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Ethical Legal Social Issues, Registries
Position: Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks
Position: Technical Director of the BNADN
Organisation: National DNA Bank-Carlos III. University of Salamanca
Area of work: Biobanks
Position: Project Lead
Organisation: The Centre for Computational Medicine, Hospital for Sick Children, Toronto
Area of work: Bioinformatics
Position: Biobank Director
Organisation: Stefano Goldwurm
Area of work: Biobanks
Position: Manager – Service Planning, Office of Population Health Genomics
Organisation: Office of Population Health Genomics (OPHG)
Area of work: Bioinformatics, Registries
Position: Chief Technology Officer and Senior Research Officer
Organisation: Garvan Institute of Medical Research
Area of work: Bioinformatics
Position: Director of CNAG
Organisation: Centro Nacional de Análisis Genómico
Area of work: Genomics Platform, Management
Position: Chief Technology Officer
Organisation: INSERM US14 – Orphanet
Position: Professor of Biomedical Ethics
Organisation: Uppsala University
Area of work: Ethical Legal Social Issues
Position: Researcher
Organisation: Instituto de Salud Carlos III
Area of work: Registries
Position: Senior Researcher
Organisation: Leiden University Medical Center
Area of work: Data linkage
Position: Associate professor at Leiden University Medical Center
Organisation: Leiden University Medical Center
Area of work: Data linkage
Position: Professor
Organisation: Children’s National Medical Center
Position: Director, Center for Computational Pharmacology & Computational Bioscience Program
Organisation: University of Colorado Denver
Area of work: Bioinformatics
Position: Member of SMA Support UK
Organisation: Lakeside Regulatory Consulting Services Ltd.
Area of work: Ethical Legal Social Issues, Impact, Patient engagement
Position: Founder and Chairman
Organisation: Dravet Syndrome Foundation
Area of work: Patient engagement
Position: Researcher / Data steward
Organisation: Leiden University Medical Center
Area of work: Data linkage
Position: President of AHC Federation of Europe
Organisation: AHC Federation of Europe
Area of work: Patient engagement
Position: Investigator, group leader
Organisation: Biomedical Research Foundation of Academy of Athens
Area of work: Bioinformatics
Position: Senior Research Fellow and Academic Scholar
Organisation: University of Patras
Area of work: Bioinformatics, Impact
Position: Consultant Pediatric Neurologist, Deputy Head of Division
Organisation: Universitätsklinikum Freiburg
Position: Director of the Centre of Genomics and Policy
Organisation: McGill University
Area of work: Ethical Legal Social Issues
Position: Medical researcher
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries
Position: Chief Executive Officer
Organisation: Finovatis
Area of work: Management
Position: Bioinformatics Engineer
Organisation: Interactive Biosoftware
Area of work: Bioinformatics
Position: Senior Data Analyst, Data Analysis Team
Organisation: Centro Nacional de Análisis Genómico
Area of work: Genomics Platform
Position: Chief Executive Officer
Organisation: EURORDIS – Rare Diseases Europe
Area of work: Ethical Legal Social Issues
Position: Registry Manager
Organisation: Vaincre la Mucoviscidose
Area of work: Patient engagement
Position: Director
Organisation: Karolinska Institutet
Area of work: Biobanks
Position: Bioinformatics Research Assistant
Organisation: University of Aveiro
Area of work: Bioinformatics
Position: Postdoctoral Researcher
Organisation: Instituto de Salud Carlos III
Area of work: Biobanks, Registries
Position: Head of Department of Biology and Medical Genetics
Organisation: Charles University
Area of work: Impact, Registries
Position: Professor, Dept of Pediatrics , University of Ottawa
Organisation: CARE4RARE
Position: Researcher
Organisation: Uppsala University
Area of work: Ethical Legal Social Issues
Position: Senior Lecturer
Organisation: Newcastle University
Area of work: Ethical Legal Social Issues
Position: Project leader, Developer
Organisation: Karolinska Institutet
Area of work: Biobanks
Position: Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks
Position: Research Support Officer II/ PhD Student
Organisation: University of Malta
Area of work: Biobanks, Ethical Legal Social Issues, Impact
Position: Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks
Organisation: Office of Population Health Genomics (OPHG)
Area of work: Bioinformatics, Ethical Legal Social Issues, Registries
Area of work: Bioinformatics, Ethical Legal Social Issues, Registries
Position: Head of Research Impact and Strategic Analysis at Fondazione Telethon
Organisation: Fondazione Telethon
Area of work: Biobanks
Position: Biobank Director and Head of Muscle Cell Biology Lab
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks
Position: Independent advisor
Organisation: unaffiliated
Position: Director, Department of Neuromuscular Research
Organisation: National Center of Neurology & Psychiatry (NCNP)
Position: Associate Professor
Organisation: University of Aveiro
Area of work: Bioinformatics
Position: Scientific Director of the BNADN
Organisation: National DNA Bank-Carlos III. University of Salamanca
Area of work: Biobanks
Position: Professor of Neurology
Organisation: University Hospital of Ulm
Area of work: Biobanks, Registries
Position: Director of the Rare Diseases Biobank
Organisation: Hacettepe University
Area of work: Biobanks
Position: Pediatrician, Medical Geneticist, Research Professor
Organisation: Centre for Biomedical Network Research on Rare Diseases
Position: Project Assistant
Organisation: Newcastle University
Area of work: Management
Position: Chief Patient Affairs/Health Policies Officer
Organisation: LYSOGENE
Position: Team Leader - Variation
Organisation: European Bioinformatics Institute
Area of work: Bioinformatics
Position: Assistant Professor of Pharmacogenomics and Pharmaceutical Biotechnology
Organisation: University of Patras
Area of work: Bioinformatics, Impact
Position: Principal Investigator
Organisation: Institute of Molecular Genetics and Genetic Engineering University of Belgrade (IMGGE)
Position: Director Public Affairs EMEA
Organisation: Genzyme Europe B.V.
Area of work: Impact
Position: Software Engineer, Data Analysis Team
Organisation: Centro Nacional de Análisis Genómico
Area of work: Genomics Platform
Position: TNGB partner (Biobank Director)
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks
Position: Allan-Herndon-Dudley Patient Advocate
Organisation: MCT8-AHDS Foundation
Area of work: Patient engagement
Position: Director, Institute of Rare Diseases Research
Organisation: Instituto de Salud Carlos III
Area of work: Biobanks, Registries
Position: Principal Researcher
Organisation: Foundation for Research and Technology – Hellas (FORTH)
Area of work: Bioinformatics
Position: Technical Director Assistant of the BNADN
Organisation: Maria Ramos
Area of work: Impact, Registries
Position: VP Genetic Services
Organisation: PatientCrossroads
Area of work: Genomics Platform, Registries
Position: Director
Organisation: INSERM US14 – Orphanet
Position: Coordinator
Organisation: FEDERG Initiative
Area of work: Ethical Legal Social Issues, Patient engagement
Position: Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks
Position: Head of the Institute of Medical Genetics and Applied Genomics
Organisation: Universitätsklinikum Tübingen
Position: Professor of Computational Biology
Organisation: Jackson Laboratory for Genomic Medicine
Area of work: Data linkage
Position: Senior researcher
Organisation: Leiden University Medical Center
Area of work: Data linkage
Position: Rare Disease Patient Registries and Bio-repositories specialist
Organisation: Yaffa Rubinstein
Area of work: Biobanks, Registries
Position: Project Leader
Organisation: Karolinska Institutet
Area of work: Biobanks
Position: Research Engineer
Organisation: Aix-Marseille University Medical School
Area of work: Bioinformatics
Position: Head of Division of Paediatric Nephrology and KFH Children’s Kidney Center
Organisation: Universitätsklinikum Heidelberg
Organisation: Deutsche Gesellschaft fuer Muskelkranke (DGM), Initiative SMA
Area of work: Ethical Legal Social Issues, Patient engagement
Area of work: Ethical Legal Social Issues, Patient engagement
Position: Software Engineer
Organisation: University of Aveiro
Area of work: Bioinformatics
Position: Patient advocate
Organisation: unaffiliated
Area of work: Ethical Legal Social Issues, Patient engagement
Position: Platform Leader, Informatics and Bio-computing
Organisation: Ontario Institute for Cancer Research
Area of work: Bioinformatics
Position: Head of Genomics Coordination Center
Organisation: University Medical Center Groningen (UMCG)
Area of work: Biobanks, Registries
Position: Director
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries
Position: Clinical Bioinformatician and Trainer – NGRL/Nowgen
Organisation: National Genetics Reference Laboratory Manchester
Area of work: Bioinformatics
Position: RD-Connect Communications and Data Platform Manager
Organisation: Newcastle University
Area of work: Genomics Platform, Management
Position: Researcher
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries
Position: Director of the Structural Biology and Biocomputing Programme
Organisation: Barcelona Supercomputing Center (BSC)
Area of work: Bioinformatics
Position: Project Manager
Organisation: University Medical Center Groningen (UMCG)
Area of work: Biobanks, Data linkage
Organisation: NephcEurope Foundation
Area of work: Biobanks, Ethical Legal Social Issues, Patient engagement
Area of work: Biobanks, Ethical Legal Social Issues, Patient engagement
Position: Research Support Officer II/ BioBank Assistant
Organisation: University of Malta
Area of work: Biobanks, Ethical Legal Social Issues, Impact
Position: Student
Organisation: Uppsala University
Area of work: Ethical Legal Social Issues
Position: Head of Biobank
Organisation: Instituto de Salud Carlos III
Area of work: Biobanks, Registries
Position: Honorary President
Organisation: PRO RETINA Deutschland e.V.
Area of work: Patient engagement
Position: Research Program Manager
Organisation: Fondazione Telethon
Area of work: Biobanks
Position: RD-Connect Project Manager
Organisation: Newcastle University
Area of work: Management
Position: Senior Lecturer and Co-Director PEALS
Organisation: Newcastle University
Area of work: Ethical Legal Social Issues
Position: Pathologist, Vice-Chair of the Institute of Pathology
Organisation: Medical University of Graz
Area of work: Biobanks
