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This screen gives access to a list of technologies and know-how of specific interest to researchers working on rare diseases. The list is sorted by country, region and city.

The technologies and know-how which are registered with Orphanet are those of specific interest for the rare diseases research, and taking place in Europe and surrounding countries. The information which is displayed is provided by the manager of the technological platform or expert methodologists.

The data is updated annually.

Warning

The data collection takes place in European and surrounding countries. Platforms funded by funding agencies outside of the Orphanet consortium are collected by the coordinating team if the funding agency is member of the IRDiRC consortium. The database cannot yet be regarded as comprehensive. If all technologies or know-how are not listed, it may be that we have not yet collected all the information, but it is also possible that the professional has refused to be listed.

Orphanet aims to provide rare disease information to healthcare professionals, patients, and their relatives, in order to contribute improving the diagnosis, care and treatment of these diseases. Information in Orphanet is not intended to replace professional health care.

Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.

Search for a platform

55 Result(s)

HVP - HUMAN VARIOME PROJECT: the global initiative to collect and curate all human genetic variation effecting human disease Genomic Disorders Research Centre

BBMRI: biobanking and biomolecular resources research infrastructure Medizinische Universität Graz Institut für Pathologie

European Organisation for Research and Treatment of Cancer (EORTC) EORTC European Organisation for the Research and Treatment of Cancer

LOVD software: a flexible, freely available tool to collect, share and display data on genes, variants and phenotypes European Commission DG Research - Directorate General for Research

RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research European Commission DG Research - Directorate General for Research

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations - ECARUCA European Commission DG Research - Directorate General for Research

European Sequencing and Genotyping Infrastructure - ESGI European Commission DG Research - Directorate General for Research

CTSR: Care and Trial Site Registry for neuromuscular and neurodegenerative diseases European Commission DG Research - Directorate General for Research

ERINHA: European Research Infrastructure on Highly Pathogenic Agents European Commission DG Research - Directorate General for Research

Euro-BioImaging European Commission DG Research - Directorate General for Research

CTSR: Care and Trial Site Registry for neuromuscular and neurodegenerative diseases European Commission DG SANCO - Directorate General for Health and Consumer Affairs

BALSAC Université du Québec à Chicoutimi Projet BALSAC

BALSAC Centre hospitalier universitaire Sainte-Justine Direction de la recherche

BALSAC Ministère des Finances et de l'Économie (MFE) Ministère du Développement économique, Innovation et exportation

ERINHA: European Research Infrastructure on Highly Pathogenic Agents Laboratoire P4 Inserm - Jean Mérieux

ATLANTIC GENE THERAPIES Myopathies.Info

PHENOMIN: French National Infrastructure for Mouse Phenogenomics Institut Clinique de la Souris

platform of integrative chemical biology of strasbourg (PCBIS) PCBIS - Plate-forme de Chimie Biologique Intégrative de Strasbourg (UMS 3286)

APTEEUS: engaging patients in discovery Faculté des Sciences Pharmaceutiques et Biologiques de Lille APTEEUS: le patient au coeur de la découverte de son traitement

GENETHON Association Française contre les Myopathies

ATLANTIC GENE THERAPIES Association Française contre les Myopathies

BIOTHERAPIES INSTITUTE Association Française contre les Myopathies

I-STEM: Institute for Stem cell Therapy and Exploration of Monogenic diseases Association Française contre les Myopathies

High-throughput sequencing platform for the identification of human mutations Institut de Génomique - Direction des Sciences du Vivant - CEA Plateforme mutations

OrphanDev ANR - Agence Nationale de la Recherche

RaDiCo - Rare Diseases Cohort CHU Paris Est - Hôpital d'Enfants Armand-Trousseau Physiopathologie Des Maladies Génétiques d'Expression Pédiatrique - Inserm UMRS_933

ECRIN: European clinical research infrastructure network Institut National de la Santé et de la Recherche Médicale

Orphanet Institut National de la Santé et de la Recherche Médicale

I-STEM: Institute for Stem cell Therapy and Exploration of Monogenic diseases Institut National de la Santé et de la Recherche Médicale

PHENOMIN: French National Infrastructure for Mouse Phenogenomics Plateforme Maladies Rares Fondation Maladies Rares

Orphanet Plateforme Maladies Rares INSERM, US14 - Orphanet

OrphanDev CHU de Marseille - Hôpital de la Timone Service de Pharmacologie clinique - Centre de Pharmacologie Clinique et d'Evaluations Thérapeutiques (CPCET)

CTSR: Care and Trial Site Registry for neuromuscular and neurodegenerative diseases Zentrum für Kinder- und Jugendmedizin Freiburg Klinik für Neuropädiatrie und Muskelerkrankungen

Euro-BioImaging EMBL Heidelberg Imaging Infrastructure Strategy Development

INFRAFRONTIER: infrastructure networks for large-scale and comprehensive phenotyping and archiving of mouse models Helmholtz Zentrum München Institut für Humangenetik

HPO: the Human Phenotype Ontology Charité - Universitätsmedizin Berlin (CVK) Institut für Medizinische Genetik und Humangenetik

EU-OPENSCREEN: a European infrastructure of screening platforms Leibniz-Institut für Molekulare Pharmakologie Netzwerkzentrale EU-OPENSCREEN

CHEMBIONET: resource network supporting academic chemical biology research Leibniz-Institut für Molekulare Pharmakologie Netzwerkzentrale EU-OPENSCREEN

European Sequencing and Genotyping Infrastructure - ESGI Max-Planck-Institut für molekulare Genetik European Sequencing and Genotyping Infrastructure

CIDSTEM - Interdepartmental Centre for Stem Cells and Regenerative Medicine Università degli Studi di Modena e Reggio Emilia Centro di Medicina Rigenerativa "Stefano Ferrari"

CIDSTEM - Interdepartmental Centre for Stem Cells and Regenerative Medicine Università degli Studi di Modena e Reggio Emilia

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations - ECARUCA Radboudumc - Radboud universitair medisch centrum Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen

EATRIS: European advanced translational research infrastructure in medicine EATRIS Headquarters European advanced translational research infrastructure in medicine

LOVD software: a flexible, freely available tool to collect, share and display data on genes, variants and phenotypes LUMC - Leids Universitair Medisch Centrum Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

SEFALer: Laboratory Animals Phenotyping Network ISCIII - Instituto de Salud Carlos III Centro de Investigación Biomédica en Red de Enfermedades Raras

SEFALer: Laboratory Animals Phenotyping Network Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM) Grupo/Laboratorio de Neurobiología de la Audición / Servicio de Evaluación Neurofuncional no Invasiva

ELIXIR: European life sciences infrastructure for biological information EBI - European Bioinformatics Institute

EBI - European Bioinformatics Institute EBI - European Bioinformatics Institute

DECIPHER - database of chromosomal imbalance and phenotype in human using ensembl resources Wellcome Trust Sanger Institute DECIPHER

DMuDB: Diagnostic Mutation Database St Mary's Hospital National Genetics Reference Laboratory - Manchester

GEN2PHEN: genotype-to-phenotype databases: A holistic solution Adrian Building Department of Genetics

COMET: Core Outcome Measures for Clinical Trials Alder Hey Children's Hospital Clinical Trials Research Centre

INSTRUCT: an integrated structural biology infrastructure for Europe Henry Wellcome Building for Genomic Medicine Division of Structural Biology

RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research Newcastle upon Tyne Hospitals NHS Trust Institute of Genetic Medicine

PhenXToolkit: consensus measures for Phenotypes and eXposures RTI International

Help

Warning

HVP - HUMAN VARIOME PROJECT: the global initiative to collect and curate all human genetic variation effecting human disease
Genomic Disorders Research Centre

BBMRI: biobanking and biomolecular resources research infrastructure
Medizinische Universität Graz

Institut für Pathologie

European Organisation for Research and Treatment of Cancer (EORTC)
EORTC

European Organisation for the Research and Treatment of Cancer

LOVD software: a flexible, freely available tool to collect, share and display data on genes, variants and phenotypes
European Commission

DG Research - Directorate General for Research

RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research
European Commission

DG Research - Directorate General for Research

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations - ECARUCA
European Commission

DG Research - Directorate General for Research

European Sequencing and Genotyping Infrastructure - ESGI
European Commission

DG Research - Directorate General for Research

CTSR: Care and Trial Site Registry for neuromuscular and neurodegenerative diseases
European Commission

DG Research - Directorate General for Research

ERINHA: European Research Infrastructure on Highly Pathogenic Agents
European Commission

DG Research - Directorate General for Research

Euro-BioImaging
European Commission

DG Research - Directorate General for Research

CTSR: Care and Trial Site Registry for neuromuscular and neurodegenerative diseases
European Commission

DG SANCO - Directorate General for Health and Consumer Affairs

BALSAC
Université du Québec à Chicoutimi

Projet BALSAC

BALSAC
Centre hospitalier universitaire Sainte-Justine

Direction de la recherche

BALSAC
Ministère des Finances et de l'Économie (MFE)

Ministère du Développement économique, Innovation et exportation

ERINHA: European Research Infrastructure on Highly Pathogenic Agents
Laboratoire P4 Inserm - Jean Mérieux

ATLANTIC GENE THERAPIES
Myopathies.Info

PHENOMIN: French National Infrastructure for Mouse Phenogenomics
Institut Clinique de la Souris

platform of integrative chemical biology of strasbourg (PCBIS)
PCBIS - Plate-forme de Chimie Biologique Intégrative de Strasbourg (UMS 3286)

APTEEUS: engaging patients in discovery
Faculté des Sciences Pharmaceutiques et Biologiques de Lille

APTEEUS: le patient au coeur de la découverte de son traitement

GENETHON
Association Française contre les Myopathies

ATLANTIC GENE THERAPIES
Association Française contre les Myopathies

BIOTHERAPIES INSTITUTE
Association Française contre les Myopathies

I-STEM: Institute for Stem cell Therapy and Exploration of Monogenic diseases
Association Française contre les Myopathies

High-throughput sequencing platform for the identification of human mutations
Institut de Génomique - Direction des Sciences du Vivant - CEA

Plateforme mutations

OrphanDev
ANR - Agence Nationale de la Recherche

RaDiCo - Rare Diseases Cohort
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau

Physiopathologie Des Maladies Génétiques d'Expression Pédiatrique - Inserm UMRS_933

ECRIN: European clinical research infrastructure network
Institut National de la Santé et de la Recherche Médicale

Orphanet
Institut National de la Santé et de la Recherche Médicale

I-STEM: Institute for Stem cell Therapy and Exploration of Monogenic diseases
Institut National de la Santé et de la Recherche Médicale

PHENOMIN: French National Infrastructure for Mouse Phenogenomics
Plateforme Maladies Rares

Fondation Maladies Rares

Orphanet
Plateforme Maladies Rares

INSERM, US14 - Orphanet

OrphanDev
CHU de Marseille - Hôpital de la Timone

Service de Pharmacologie clinique - Centre de Pharmacologie Clinique et d'Evaluations Thérapeutiques (CPCET)

CTSR: Care and Trial Site Registry for neuromuscular and neurodegenerative diseases
Zentrum für Kinder- und Jugendmedizin Freiburg

Klinik für Neuropädiatrie und Muskelerkrankungen

Euro-BioImaging
EMBL Heidelberg

Imaging Infrastructure Strategy Development

INFRAFRONTIER: infrastructure networks for large-scale and comprehensive phenotyping and archiving of mouse models
Helmholtz Zentrum München

Institut für Humangenetik

HPO: the Human Phenotype Ontology
Charité - Universitätsmedizin Berlin (CVK)

Institut für Medizinische Genetik und Humangenetik

EU-OPENSCREEN: a European infrastructure of screening platforms
Leibniz-Institut für Molekulare Pharmakologie

Netzwerkzentrale EU-OPENSCREEN

CHEMBIONET: resource network supporting academic chemical biology research
Leibniz-Institut für Molekulare Pharmakologie

Netzwerkzentrale EU-OPENSCREEN

European Sequencing and Genotyping Infrastructure - ESGI
Max-Planck-Institut für molekulare Genetik

European Sequencing and Genotyping Infrastructure

CIDSTEM - Interdepartmental Centre for Stem Cells and Regenerative Medicine
Università degli Studi di Modena e Reggio Emilia

Centro di Medicina Rigenerativa "Stefano Ferrari"

CIDSTEM - Interdepartmental Centre for Stem Cells and Regenerative Medicine
Università degli Studi di Modena e Reggio Emilia

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations - ECARUCA
Radboudumc - Radboud universitair medisch centrum

Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen

EATRIS: European advanced translational research infrastructure in medicine
EATRIS Headquarters

European advanced translational research infrastructure in medicine

LOVD software: a flexible, freely available tool to collect, share and display data on genes, variants and phenotypes
LUMC - Leids Universitair Medisch Centrum

Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

SEFALer: Laboratory Animals Phenotyping Network
ISCIII - Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red de Enfermedades Raras

SEFALer: Laboratory Animals Phenotyping Network
Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)

Grupo/Laboratorio de Neurobiología de la Audición / Servicio de Evaluación Neurofuncional no Invasiva

ELIXIR: European life sciences infrastructure for biological information
EBI - European Bioinformatics Institute

EBI - European Bioinformatics Institute
EBI - European Bioinformatics Institute

DECIPHER - database of chromosomal imbalance and phenotype in human using ensembl resources
Wellcome Trust Sanger Institute

DECIPHER

DMuDB: Diagnostic Mutation Database
St Mary's Hospital

National Genetics Reference Laboratory - Manchester

GEN2PHEN: genotype-to-phenotype databases: A holistic solution
Adrian Building

Department of Genetics

COMET: Core Outcome Measures for Clinical Trials
Alder Hey Children's Hospital

Clinical Trials Research Centre

INSTRUCT: an integrated structural biology infrastructure for Europe
Henry Wellcome Building for Genomic Medicine

Division of Structural Biology

RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research
Newcastle upon Tyne Hospitals NHS Trust

Institute of Genetic Medicine

PhenXToolkit: consensus measures for Phenotypes and eXposures
RTI International