RD-ConnectRD-Connect

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      • The original EU-funded project
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    • Omics data
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        • FAQ: Sample Catalogue
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Archives: People

RD-Connect

An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Visit the platform:

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María Almeida

Position: Technical Director Assistant of the BNADN
Organisation: National DNA Bank-Carlos III. University of Salamanca
Area of work: Biobanks

Javier Alonso

Position: Head of Human Genetic Branch. Area Manager
Organisation: Instituto de Salud Carlos III
Area of work: Biobanks, Registries

Verónica Alonso

Position: Head of RD Epidemiological Unit
Organisation: Instituto de Salud Carlos III
Area of work: Biobanks, Registries

Corrado Angelini

Position: Director Neuromuscular Bank
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks

Dorota Badowska

Position: RD-Connect Science Communication and Impact Coordinator
Organisation: Newcastle University
Area of work: Impact

Chiara Baldo

Position: Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks

Katharina Beier

Position: Research Fellow; Dept. of Medical Ethics and History of Medicine
Organisation: University Medical Center Göttingen
Area of work: Ethical Legal Social Issues

Matt Bellgard

Position: Professor
Organisation: Centre for Comparative Genomics, Murdoch University
Area of work: Bioinformatics

Sergi Beltran Agulló

Position: Bioinformatics Analysis Group Leader Data Analysis Team Leader
Organisation: Centro Nacional de Análisis Genómico
Area of work: Genomics Platform

Christophe Béroud

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

Nenad Blau

Position: Professor of Clinical Biochemistry
Organisation: University of Zurich
Area of work: Biobanks

André Blavier

Position: CEO
Organisation: Interactive Biosoftware
Area of work: Bioinformatics

Niklas Blomberg

Position: ELIXIR Director
Organisation: ELIXIR
Area of work: Management

Kym Boycott

Position: Medical Geneticist, Regional Genetics Program Investigator, CHEO Research Institute Associate Professor, University of Ottawa
Organisation: CARE4RARE

Serge Braun

Position: Director
Organisation: Association Française contre les Myopathies (AFM)

Elena Bravo

Position: Senior Researcher
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries

Anthony J Brookes

Position: Professor in Bioinformatics and Genomics
Organisation: University of Leicester

Virginie Bros-Facer

Position: Research Infrastructure Project Manager
Organisation: EURORDIS – Rare Diseases Europe
Area of work: Patient engagement

Michael Brudno

Position: Principal Investigator
Organisation: The Centre for Computational Medicine, Hospital for Sick Children, Toronto
Area of work: Data linkage

Kate Bushby

Position: Professor of Neuromuscular Genetics
Organisation: Newcastle University
Area of work: Impact

Claudio Carta

Position: Researcher
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries

Jean-Jacques Cassiman

Position: Professor at K.U.Leuven
Organisation: Jean-Jacques Cassiman
Area of work: Management

Gwenaëlle Collod-Beroud

Position: Full-time Senior Researcher (1st class)
Organisation: Aix-Marseille University Medical School
Area of work: Bioinformatics

Virginia Corrochano

Position: Biobank Coordinator
Organisation: Centre for Biomedical Network Research on Rare Diseases
Area of work: Biobanks

Hugh Dawkins

Position: Director
Organisation: Office of Population Health Genomics (OPHG)
Area of work: Bioinformatics, Registries

John Dawson

Position: Communications & Data Helpdesk Coordinator at RD-Connect
Organisation: Newcastle University
Area of work: Genomics Platform, Impact

Stefan Deckert

Position: Member of DHAG , DHAG-Representative for Neuromics Project
Organisation: Deutsche-Heredo-Ataxie-Gesellschaft (DHAG)
Area of work: Patient engagement

Sébastien Degot

Position: Consultant
Organisation: Finovatis
Area of work: Management

Andrew Devereau

Position: Director, NGRL Manchester
Organisation: National Genetics Reference Laboratory Manchester
Area of work: Bioinformatics

Roseline Favresse

Position: Regional Delegate in charge of International Affairs
Organisation: Fondation Maladies Rares
Area of work: Impact

Alexander Felice

Position: Professor
Organisation: University of Malta
Area of work: Biobanks, Ethical Legal Social Issues, Impact

José María Fernández

Position: Researcher at BSC
Organisation: Barcelona Supercomputing Center (BSC)
Area of work: Genomics Platform

Mirella Filocamo

Position: TNGB Coordinator and Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks

Alexandra Fiott

Position: Research Support Officer I/ BioBank Assistant
Organisation: University of Malta
Area of work: Biobanks, Ethical Legal Social Issues, Impact

Paul Flicek

Position: Team Leader and Senior Scientist
Organisation: European Bioinformatics Institute
Area of work: Bioinformatics

Martin Fransson

Position: Project Leader
Organisation: Karolinska Institutet
Area of work: Biobanks

Sabina Gainotti

Position: Researcher
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Ethical Legal Social Issues, Registries

Barbara Garavaglia

Position: Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks

Andrés García-Montero

Position: Technical Director of the BNADN
Organisation: National DNA Bank-Carlos III. University of Salamanca
Area of work: Biobanks

Muriel Gevrey

Organisation: CMT France
Area of work: Patient engagement

Marta Girdea

Position: Project Lead
Organisation: The Centre for Computational Medicine, Hospital for Sick Children, Toronto
Area of work: Bioinformatics

Stefano Goldwurm

Position: Biobank Director
Organisation: Stefano Goldwurm
Area of work: Biobanks

Caroline Graham

Position: Manager – Service Planning, Office of Population Health Genomics
Organisation: Office of Population Health Genomics (OPHG)
Area of work: Bioinformatics, Registries

Tudor Groza

Position: Chief Technology Officer and Senior Research Officer
Organisation: Garvan Institute of Medical Research
Area of work: Bioinformatics

Ivo Gut

Position: Director of CNAG
Organisation: Centro Nacional de Análisis Genómico
Area of work: Genomics Platform, Management

Marc Hanauer

Position: Chief Technology Officer
Organisation: INSERM US14 – Orphanet

Mats Hansson

Position: Professor of Biomedical Ethics
Organisation: Uppsala University
Area of work: Ethical Legal Social Issues

Isabel Hermosilla Gimeno

Position: Researcher
Organisation: Instituto de Salud Carlos III
Area of work: Registries

Kristina Hettne

Position: Senior Researcher
Organisation: Leiden University Medical Center
Area of work: Data linkage

Peter-Bram ’t Hoen

Position: Associate professor at Leiden University Medical Center
Organisation: Leiden University Medical Center
Area of work: Data linkage

Eric P Hoffman

Position: Professor
Organisation: Children’s National Medical Center

Larry Hunter

Position: Director, Center for Computational Pharmacology & Computational Bioscience Program
Organisation: University of Colorado Denver
Area of work: Bioinformatics

Joseph Irwin

Position: Member of SMA Support UK
Organisation: Lakeside Regulatory Consulting Services Ltd.
Area of work: Ethical Legal Social Issues, Impact, Patient engagement

Julian Isla

Position: Founder and Chairman
Organisation: Dravet Syndrome Foundation
Area of work: Patient engagement

Annika Jacobsen

Position: Researcher / Data steward
Organisation: Leiden University Medical Center
Area of work: Data linkage

Sigurður Hólmar Jóhannesson

Position: President of AHC Federation of Europe
Organisation: AHC Federation of Europe
Area of work: Patient engagement

Eleni Katsantoni

Position: Investigator, group leader
Organisation: Biomedical Research Foundation of Academy of Athens
Area of work: Bioinformatics

Theodora Katsila

Position: Senior Research Fellow and Academic Scholar
Organisation: University of Patras
Area of work: Bioinformatics, Impact

Jan Kirschner

Position: Consultant Pediatric Neurologist, Deputy Head of Division
Organisation: Universitätsklinikum Freiburg

Bartha Knoppers

Position: Director of the Centre of Genomics and Policy
Organisation: McGill University
Area of work: Ethical Legal Social Issues

Yllka Kodra

Position: Medical researcher
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries

David Koubi

Position: Chief Executive Officer
Organisation: Finovatis
Area of work: Management

Séverine Lair

Position: Bioinformatics Engineer
Organisation: Interactive Biosoftware
Area of work: Bioinformatics

Steven Laurie

Position: Senior Data Analyst, Data Analysis Team
Organisation: Centro Nacional de Análisis Genómico
Area of work: Genomics Platform

Yann Le Cam

Position: Chief Executive Officer
Organisation: EURORDIS – Rare Diseases Europe
Area of work: Ethical Legal Social Issues

Lydie Lemonnier

Position: Registry Manager
Organisation: Vaincre la Mucoviscidose
Area of work: Patient engagement

Jan-Eric Litton

Position: Director
Organisation: Karolinska Institutet
Area of work: Biobanks

Hanns Lochmüller

Position: Senior Scientist, CHEO Research Institute. Professor of Neurology, The Ottawa Hospital and University of Ottawa Faculty of Medicine
Organisation: Centro Nacional de Análisis Genómico
Area of work: Management

Pedro Lopes

Position: Bioinformatics Research Assistant
Organisation: University of Aveiro
Area of work: Bioinformatics

Estrella López Martín

Position: Postdoctoral Researcher
Organisation: Instituto de Salud Carlos III
Area of work: Biobanks, Registries

Dorthe Lykke

Organisation: Euro HSP
Area of work: Patient engagement

Milan Macek

Position: Head of Department of Biology and Medical Genetics
Organisation: Charles University
Area of work: Impact, Registries

Alex MacKenzie

Position: Professor, Dept of Pediatrics , University of Ottawa
Organisation: CARE4RARE

Deborah Mascalzoni

Position: Researcher
Organisation: Uppsala University
Area of work: Ethical Legal Social Issues

Pauline McCormack

Position: Senior Lecturer
Organisation: Newcastle University
Area of work: Ethical Legal Social Issues

Alexandre Mejat

Organisation: EURORDIS – Rare Diseases Europe
Area of work: Patient engagement

Roxana Merino Martinez

Position: Project leader, Developer
Organisation: Karolinska Institutet
Area of work: Biobanks

Giuseppe Merla

Position: Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks

Clint Mizzi

Position: Research Support Officer II/ PhD Student
Organisation: University of Malta
Area of work: Biobanks, Ethical Legal Social Issues, Impact

Maurizio Moggio

Position: Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks

Caron Molster

Organisation: Office of Population Health Genomics (OPHG)
Area of work: Bioinformatics, Ethical Legal Social Issues, Registries

Lucia Monaco

Position: Head of Research Impact and Strategic Analysis at Fondazione Telethon
Organisation: Fondazione Telethon
Area of work: Biobanks

Marina Mora

Position: Biobank Director and Head of Muscle Cell Biology Lab
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks

Per Nilsson

Position: Independent advisor
Organisation: unaffiliated

Ichizo Nishino

Position: Director, Department of Neuromuscular Research
Organisation: National Center of Neurology & Psychiatry (NCNP)

José Luis Oliveira

Position: Associate Professor
Organisation: University of Aveiro
Area of work: Bioinformatics

Alberto Orfao

Position: Scientific Director of the BNADN
Organisation: National DNA Bank-Carlos III. University of Salamanca
Area of work: Biobanks

Michael Orth

Position: Professor of Neurology
Organisation: University Hospital of Ulm
Area of work: Biobanks, Registries

Meral Özgüç

Position: Director of the Rare Diseases Biobank
Organisation: Hacettepe University
Area of work: Biobanks

Francesc Palau

Position: Pediatrician, Medical Geneticist, Research Professor
Organisation: Centre for Biomedical Network Research on Rare Diseases

Avril Palmeri

Position: Project Assistant
Organisation: Newcastle University
Area of work: Management

Samantha Parker

Position: Chief Patient Affairs/Health Policies Officer
Organisation: LYSOGENE

Kay Parkinson

Organisation: Alstrom Syndrome UK
Area of work: Ethical Legal Social Issues, Patient engagement

Justin Paschall

Position: Team Leader - Variation
Organisation: European Bioinformatics Institute
Area of work: Bioinformatics

George Patrinos

Position: Assistant Professor of Pharmacogenomics and Pharmaceutical Biotechnology
Organisation: University of Patras
Area of work: Bioinformatics, Impact

Sonja Pavlovic

Position: Principal Investigator
Organisation: Institute of Molecular Genetics and Genetic Engineering University of Belgrade (IMGGE)

Vinciane Pirard

Position: Director Public Affairs EMEA
Organisation: Genzyme Europe B.V.
Area of work: Impact

Davide Piscia

Position: Software Engineer, Data Analysis Team
Organisation: Centro Nacional de Análisis Genómico
Area of work: Genomics Platform

Luisa Politano

Position: TNGB partner (Biobank Director)
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks

Veronica Popa

Position: Allan-Herndon-Dudley Patient Advocate
Organisation: MCT8-AHDS Foundation
Area of work: Patient engagement

Manuel Posada

Position: Director, Institute of Rare Diseases Research
Organisation: Instituto de Salud Carlos III
Area of work: Biobanks, Registries

George Potamias

Position: Principal Researcher
Organisation: Foundation for Research and Technology – Hellas (FORTH)
Area of work: Bioinformatics

Maria Ramos

Position: Technical Director Assistant of the BNADN
Organisation: Maria Ramos
Area of work: Impact, Registries

Vanessa Rangel Miller

Position: VP Genetic Services
Organisation: PatientCrossroads
Area of work: Genomics Platform, Registries

Ana Rath

Position: Director
Organisation: INSERM US14 – Orphanet

Daniel Renault

Position: Coordinator
Organisation: FEDERG Initiative
Area of work: Ethical Legal Social Issues, Patient engagement

Alessandra Renieri

Position: Biobank Director
Organisation: Telethon Network of Genetic Biobanks
Area of work: Biobanks

Olaf Riess

Position: Head of the Institute of Medical Genetics and Applied Genomics
Organisation: Universitätsklinikum Tübingen

Peter Robinson

Position: Professor of Computational Biology
Organisation: Jackson Laboratory for Genomic Medicine
Area of work: Data linkage

Marco Roos

Position: Senior researcher
Organisation: Leiden University Medical Center
Area of work: Data linkage

Françoise Rouault

Organisation: Association Française contre les Myopathies (AFM)
Area of work: Patient engagement

Yaffa Rubinstein

Position: Rare Disease Patient Registries and Bio-repositories specialist
Organisation: Yaffa Rubinstein
Area of work: Biobanks, Registries

Ulla Rudsander

Position: Project Leader
Organisation: Karolinska Institutet
Area of work: Biobanks

David Salgado

Position: Research Engineer
Organisation: Aix-Marseille University Medical School
Area of work: Bioinformatics

Franz Schaefer

Position: Head of Division of Paediatric Nephrology and KFH Children’s Kidney Center
Organisation: Universitätsklinikum Heidelberg

Inge Schwersenz

Organisation: Deutsche Gesellschaft fuer Muskelkranke (DGM), Initiative SMA
Area of work: Ethical Legal Social Issues, Patient engagement

Pedro Sernadela

Position: Software Engineer
Organisation: University of Aveiro
Area of work: Bioinformatics

Chris Sotirelis

Position: Patient advocate
Organisation: unaffiliated
Area of work: Ethical Legal Social Issues, Patient engagement

Lincoln Stein

Position: Platform Leader, Informatics and Bio-computing
Organisation: Ontario Institute for Cancer Research
Area of work: Bioinformatics

Morris Swertz

Position: Head of Genomics Coordination Center
Organisation: University Medical Center Groningen (UMCG)
Area of work: Biobanks, Registries

Domenica Taruscio

Position: Director
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries

Jan Taylor

Position: Clinical Bioinformatician and Trainer – NGRL/Nowgen
Organisation: National Genetics Reference Laboratory Manchester
Area of work: Bioinformatics

Rachel Thompson

Position: RD-Connect Communications and Data Platform Manager
Organisation: Newcastle University
Area of work: Genomics Platform, Management

Paola Torreri

Position: Researcher
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries

Alfonso Valencia

Position: Director of the Structural Biology and Biocomputing Programme
Organisation: Barcelona Supercomputing Center (BSC)
Area of work: Bioinformatics

David van Enckevort

Position: Project Manager
Organisation: University Medical Center Groningen (UMCG)
Area of work: Biobanks, Data linkage

Marieke van Meel

Organisation: NephcEurope Foundation
Area of work: Biobanks, Ethical Legal Social Issues, Patient engagement

Joanna Vella

Position: Research Support Officer II/ BioBank Assistant
Organisation: University of Malta
Area of work: Biobanks, Ethical Legal Social Issues, Impact

Jennifer Viberg

Position: Student
Organisation: Uppsala University
Area of work: Ethical Legal Social Issues

Ana Villaverde Hueso

Position: Head of Biobank
Organisation: Instituto de Salud Carlos III
Area of work: Biobanks, Registries

Rainald von Gizycki

Position: Honorary President
Organisation: PRO RETINA Deutschland e.V.
Area of work: Patient engagement

Elizabeth Vroom

Organisation: unaffiliated
Area of work: Patient engagement

Mary Wang

Position: Research Program Manager
Organisation: Fondazione Telethon
Area of work: Biobanks

Libby Wood

Position: RD-Connect Project Manager
Organisation: Newcastle University
Area of work: Management

Simon Woods

Position: Senior Lecturer and Co-Director PEALS
Organisation: Newcastle University
Area of work: Ethical Legal Social Issues

Kurt Zatloukal

Position: Pathologist, Vice-Chair of the Institute of Pathology
Organisation: Medical University of Graz
Area of work: Biobanks

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Go to Genome-Phenome Analysis Platform

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Recent news

62,000 samples available via RD-Connect sample catalogue

Published: February 5, 2019

RD-Connect – six years on and outlooks to the future

Published: October 31, 2018

New FAQ section for Sample Catalogue is out!

Published: October 19, 2018

Today is the World MCT8-AHDS Day!

Published: October 8, 2018

Recommendations to create Rare Disease Registries

Published: September 28, 2018

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An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Visit the platform:

Genome-Phenome Analysis Platform

Analyse and share genomic data

Registry & Biobank Finder

Directory of rare disease biobanks and patient registries

Sample Catalogue

Browse rare disease biosamples stored in biobanks

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  • NEWS
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    • Contact
    • Project partners
    • Partner organisations
  • About
    • Introduction to rare diseases
    • RD-Connect Community
      • About the RD-Connect Community
      • Register as member
      • Structure
    • Funding and collaborations
    • RD-Connect (2012 – 2018)
      • The original EU-funded project
      • Project partners
      • Partner organisations
      • Executive Management Committee (EMC)
      • Scientific Advisory Board (SAB)
      • Patient Advisory Council (PAC)
      • Rare Disease Patient and Ethics Council (RD-PEC)
      • Periodic activity reports
  • What we do
    • Omics data
      • Genome-Phenome Analysis Platform
      • FAQ
      • Data Submission Guide
      • PhenoTips Guide
    • Data linkage
      • FAIRification of rare disease registries
      • Linked data and ontology task force
      • Ontologies in rare disease registries
    • Patient registry data
      • Registry & Biobank Finder for patient registries
      • Registry common data elements
      • Core Implementation Group
    • Biosamples data
      • Registry & Biobank Finder for biobanks
      • Sample Catalogue
      • Biobank assessment process
      • Biobank Assessment Panel
    • Bioinformatic tools
    • Ethical, Legal and Social Issues (ELSI)
      • Sharing of biosamples and data
      • Standards for informed consent
    • Patient engagement
  • Resources
    • Forms and user guides
      • See all forms and guides
      • PhenoTips Guide
      • Data Submission Guide
    • FAQs
      • FAQ: Genome-Phenome Analysis Platform
      • FAQ: Sample Catalogue
    • Newsletters
    • Presentations and flyers
    • Videos
    • Scientific publications
    • Glossary
    • Privacy policy
  • For Patients and Families
  • News
  • Events
  • Contact

Quick links

  • Genome-Phenome Analysis Platform
  • Registry & Biobank Finder
  • Sample Catalogue

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RD-Connect

RD-Connect coordination team

Centro Nacional de Análisis Genómico (CNAG-CRG)
Baldiri Reixac, 4,
Barcelona, 08028
Spain

Email: Sergi Beltran Agulló (Project Lead) or info@rd-connect.eu.

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