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 Name | Type | Description | Submitted By | Date of Submission | Date of Approval |
|---|---|---|---|---|---|
| Innovation Management Toolbox | Tool | The 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, 2023 | June 15, 2023 |
| Rare Diseases Clinical Trials Toolbox | Tool | The 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 Álamo | April 27, 2022 | July 29, 2022 |
| Cellosaurus | Database | The 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 Bairoch | April 23, 2021 | July 23, 2021 |
| Human Pluripotent Stem Cell Registry (hPSCreg) | Database | hPSCreg 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 Kurtz | August 13, 2019 | January 08, 2020 |
| MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration) | Tool | It 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 Wang | June 20, 2019 | September 4, 2019 |
| Exomiser | Tool | The 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 Robinson | May 14, 2018 | July 11, 2018 |
| RD-Connect Genome-Phenome Analysis Platform | Platform | It 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 Lochmüller | December 22, 2017 | April 4, 2018 |
| NCATS Toolkit for Patient-Focused Therapy Development | Tool | The 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 Pariser | January 4, 2018 | April 4, 2018 |
| The FAIR Guiding Principles for scientific data management and stewardship | Guideline | This article provides the basic guidelines for making data findable, accessible, interoperable, and reusable by humans and computers (FAIR). | Marco Roos | August 16, 2017 | November 2, 2017 |
| Guidelines for diagnostic next-generation sequencing | Guideline | This article provides guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. | Gert Matthijs | September 14, 2017 | October 2, 2017 |
| LOVD | Database | The Leiden Open (source) Variation Database (LOVD) provides a flexible, freely available tool for gene-centered collection and display of DNA variations. | Peter Taschner | via HVP | May 17, 2017 |
| Gene/Disease Specific Variant Database Quality Parameter guidelines | Guideline | This document details the quality assessment parameters in the evaluation of genetic variation databases. | Human Variome Project | via HVP | May 17, 2017 |
| HGVS Nomenclature | Standard | The 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 Taschner | via HVP | May 17, 2017 |
| Mutalyzer | Tool | The 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 Taschner | via HVP | May 17, 2017 |
| Improving the informed consent process in international collaborative rare disease research: effective consent for effective research | Guideline | The 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 Mascalzoni | July 5, 2016 | September 7, 2016 |
| Online Mendelian Inheritance in Man (OMIM) | Database | OMIM 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 Hamosh | February 10, 2016 | April 6, 2016 |
| TREAT-NMD Advisory Committee for Therapeutics (TACT) | Advisory Committee | TACT 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 Wagner | November 03, 2015 | April 06, 2016 |
| Care and Trial Site Registry (CTSR) | Platform | The 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 Kirschner | November 3, 2015 | April 6, 2016 |
| Standard operating procedures (SOPs) for preclinical efficacy studies | Guideline | SOPs consists of a collection of experimental protocols for the most common outcome measures used to assess drug efficacy in models of neuromuscular disease. | Raffaella Willmann | November 3, 2015 | February 11, 2016 |
| TREAT-NMD Patient Registries | Platform | The TREAT-NMD global network of national registries provides a single entry point for access to rare neuromuscular disease patients worldwide. | Hugh Dawkins | November 3, 2015 | February 11, 2016 |
| Framework for responsible sharing of genomic and health-related data | Guideline | The 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 Knoppers | August 25, 2015 | November 12, 2015 |
| The DECIPHER project | Platform | DECIPHER 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 Firth | September 14, 2015 | November 12, 2015 |
| International Consortium of Human Phenotype Terminologies (ICHPT) | Standard | ICHPT 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 Aymé | October 9, 2015 | November 12, 2015 |
| Human Phenotype Ontology (HPO) | Standard | HPO aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. | Peter Robinson | October 9, 2015 | November 12, 2015 |
| Orphanet Rare Disease Ontology (ORDO) | Platform | ORDO provide a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features | Ana Rath | April 7, 2015 | October 8, 2015 |
| PhenomeCentral | Platform | PhenomeCentral is a repository for secure data sharing in the rare disease community. | Michael Brudno | April 20, 2015 | October 8, 2015 |
| International Charter of Principles for sharing Bio-Specimens and Data | Guideline | The Charter provides guidance for effective legally- and ethically-grounded sharing of bio-specimens and data. | Mats Hansson | June 16, 2015 | August 4, 2015 |
| Orphanet | Reference | Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. | Ana Rath | July 10, 2015 | August 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.