IRDiRC Recognized Resources


IRDiRC Recognized Resources label is a quality indicator, based on a specific set of criteria, created to highlight key resources which, if used more broadly, would accelerate the pace of translating discoveries into clinical applications.
Any resource compliant with the criteria may apply for the label. Selected platforms, tools, standards, and guidelines must be of fundamental importance to the international rare diseases research and development community.

IRDiRC Recognized Resources criteria encourage long-term sustainability, peer review, and widespread relevance of the platforms, tools, standards, and guidelines.
Applications for the label are accepted on a rolling basis and evaluated through a peer-review process by IRDiRC Operating Committee members as well as experts in the relevant field.

The IRDiRC Recognized Resources is a public label, which can be made visible on and by the resource, giving users an assurance of its quality and appropriateness.

Resource NameTypeDescriptionSubmitted ByDate of SubmissionDate of Approval
Innovation Management ToolboxToolThe Innovation Management Toolbox is an online virtual library that provides self-help resources, tools and services in rare disease translational medicine openly accessible to the whole rare disease research community. Agustín Arasanz April 20, 2023June 15, 2023
Rare Diseases Clinical Trials ToolboxToolThe toolbox aims to collect the accumulated knowledge, experience, and resources generated by previous projects and/or research infrastructures and other organizations into a practical and guided toolbox to help clinical trialists and trial managers understand the regulations and requirements for conducting trials, with special focus on investigator-initiated trials for rare diseases. It has been developed through funding from the European Joint Programme on Rare Diseases from the European Union’s Horizon 2020 research and innovation programme under grant agreement N°825575.Marta del ÁlamoApril 27, 2022July 29, 2022
CellosaurusDatabaseThe Cellosaurus is a knowledge resource on cell lines. It aims to describe all cell lines used in biomedical research. 25% of the cell lines are established from patients suffering from rare diseases.Amos BairochApril 23, 2021July 23, 2021
Human Pluripotent Stem Cell Registry (hPSCreg)DatabasehPSCreg provides an overview of human pluripotent stem cell lines lines available for research. The Registry contains some human induced pluripotent stem cell lines from donors with rare diseases.Andreas KurtzAugust 13, 2019January 08, 2020
MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration)ToolIt is a search engine that collects data from a number of human genomics and model organism genetics databases and displays it in a comprehensive manner. It aims to facilitate the use of public genetic resources to prioritize rare human gene variants for study in model organisms. Access the paper here. Julia WangJune 20, 2019September 4, 2019
ExomiserToolThe Exomiser is a Java program developed for finding potential disease-causing variants in whole-exome or whole-genome sequencing data. Jules Jacobsen & Damian Smedley & Peter RobinsonMay 14, 2018July 11, 2018
RD-Connect Genome-Phenome Analysis PlatformPlatformIt is an online tool for diagnosis and gene discovery in rare diseases research. The platform enables the identification of disease-causing mutations in rare disease patients and to link those with phenotypic data of the patients. Ivo Gut & Hanns LochmüllerDecember 22, 2017April 4, 2018
NCATS Toolkit for Patient-Focused Therapy DevelopmentToolThe toolkit provide a consolidated collection of existing online resources that can help patient groups advance through the process of therapy development and provide them with the tools they need to advance medical research.Anne PariserJanuary 4, 2018April 4, 2018
The FAIR Guiding Principles for scientific data management and stewardshipGuidelineThis article provides the basic guidelines for making data findable, accessible, interoperable, and reusable by humans and computers (FAIR). Marco RoosAugust 16, 2017November 2, 2017
Guidelines for diagnostic next-generation sequencing GuidelineThis article provides guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders.Gert MatthijsSeptember 14, 2017October 2, 2017
LOVDDatabaseThe Leiden Open (source) Variation Database (LOVD) provides a flexible, freely available tool for gene-centered collection and display of DNA variations.Peter Taschnervia HVPMay 17, 2017
Gene/Disease Specific Variant Database Quality Parameter guidelinesGuidelineThis document details the quality assessment parameters in the evaluation of genetic variation databases.Human Variome Projectvia HVPMay 17, 2017
HGVS NomenclatureStandardThe HGVS Nomenclature is a set of recommendations when describing sequence variant in a consistent and unambiguous manner to facilitate the report and exchange of information on the analysis of a genome.Peter Taschnervia HVPMay 17, 2017
MutalyzerToolThe Mutalyzer is program suite to support checks of Sequence Variant Nomenclature according to the guidelines of the Human Genome Variation Society, thus improve
the quality of variant descriptions.
Peter Taschnervia HVPMay 17, 2017
Improving the informed consent process in international collaborative rare disease research: effective consent for effective researchGuidelineThe guidelines identify core elements to be addressed in the Informed Consent documents in the context of biobanks, observational studies and international collaborative research on rare diseases Sabina Gainotti & Deborah MascalzoniJuly 5, 2016September 7, 2016
Online Mendelian Inheritance in Man (OMIM)DatabaseOMIM is a knowledgebase of human genes and genetic phenotypes comprised of over 23,000 structured free-text entries and used weekly by 60-100,000 individuals from all over the world.Ada HamoshFebruary 10, 2016April 6, 2016
TREAT-NMD Advisory Committee for Therapeutics (TACT)Advisory CommitteeTACT is a multi-disciplinary international group of academic, industry drug development experts, patient representatives, and governmental representatives, that provide guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases. Kathryn WagnerNovember 03, 2015 April 06, 2016
Care and Trial Site Registry (CTSR)PlatformThe aim of the Care and Trial Site Registry (CTSR) is to help the pharmaceutical industry and clinical investigators select trial sites as well as to help to identify potential partners for upcoming research projects.Janbernd KirschnerNovember 3, 2015April 6, 2016
Standard operating procedures (SOPs) for preclinical efficacy studiesGuidelineSOPs consists of a collection of experimental protocols for the most common outcome measures used to assess drug efficacy in models of neuromuscular disease. Raffaella WillmannNovember 3, 2015February 11, 2016
TREAT-NMD Patient RegistriesPlatformThe TREAT-NMD global network of national registries provides a single entry point for access to rare neuromuscular disease patients worldwide. Hugh DawkinsNovember 3, 2015February 11, 2016
Framework for responsible sharing of genomic and health-related dataGuidelineThe Framework for Responsible Sharing of Genomic and Health-Related Data provides a principled and practical framework for the responsible sharing of genomic and health-related data.Bartha KnoppersAugust 25, 2015November 12, 2015
The DECIPHER projectPlatformDECIPHER is a database and web-based platform enabling the deposition, analysis and sharing of phenotype-linked plausibly pathogenic variation in patients with rare genetic disorders. Matt Hurles & Helen FirthSeptember 14, 2015November 12, 2015
International Consortium of Human Phenotype Terminologies (ICHPT)StandardICHPT provides the community with a set of terms to describe phenotypic features to be used by any terminologies to achieve interoperability between databases, in particular to allow the linking of phenotype and genotype databases for rare diseases.Ségolène AyméOctober 9, 2015November 12, 2015
Human Phenotype Ontology (HPO)StandardHPO aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease.Peter RobinsonOctober 9, 2015November 12, 2015
Orphanet Rare Disease Ontology (ORDO)PlatformORDO provide a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant featuresAna RathApril 7, 2015October 8, 2015
PhenomeCentralPlatformPhenomeCentral is a repository for secure data sharing in the rare disease community.Michael BrudnoApril 20, 2015October 8, 2015
International Charter of Principles for sharing Bio-Specimens and DataGuidelineThe Charter provides guidance for effective legally- and ethically-grounded sharing of bio-specimens and data. Mats HanssonJune 16, 2015August 4, 2015
OrphanetReferenceOrphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences.Ana RathJuly 10, 2015August 4, 2015

Disclaimer: Please note that the IRDiRC Recognized Resources label is not an indicator of ranking of one platform, tool, standard, or guideline against other similar products.
FDA disclaimer: FDA participates as a member of IRDiRC’s Committees as a part of the Agency’s efforts to advance the evaluation and development of products (drugs, biologics, devices, or medical foods) including those for the diagnosis and/or treatment of rare diseases or conditions. FDA’s membership in IRDiRC should not be construed as an endorsement of IRDiRC’s specific policies, activities, or products.