IRDiRC Recognized Resources



Goal of the “IRDiRC Recognized Resources” Label

Among the initiatives that IRDiRC identified as key to contribute to its goals was the creation of a label to highlight key resources which, if used more broadly, would accelerate the pace of discoveries and translation into clinical services. Selected platforms/tools/standards/guidelines must be of fundamental importance to the international rare diseases research and development community. “IRDiRC Recognized Resources” is a quality indicator based on a specific set of criteria. Any resource compliant with the criteria set forth is entitled to the label. “IRDiRC Recognized Resources” is a public label which could, and should, be made visible on and by the resource, giving the users an assurance of its quality/appropriateness. “IRDiRC Recognized Resources” encourages long-term sustainability of the tools/standards/guidelines and their societal values. “IRDiRC Recognized Resources” endorsements are by the IRDiRC Scientific Committees. “IRDiRC Recognized Resources” was formerly known as “IRDiRC Recommended.”

Eligibility to Obtain the “IRDiRC Recognized Resources” Label

The application for “IRDiRC Recognized Resources” is open to all project leaders wishing to get endorsement by IRDiRC of their platform/tool/standard/guideline which contributes to the acceleration of research and development in the field of rare diseases.

Type of eligible resources:

  • Software, bioinformatics platforms, webservices
  • Data collections / biospecimen collections
  • International standards
  • International guidelines

The following resources, although acknowledged as very important, are excluded from this process:

  • National, regional or institutional biobanks for rare diseases or a single disease entity
  • National, regional or institutional registries for rare diseases or a single disease entity
  • Resources with some utility for rare diseases research but primarily designed for broader use (e.g. informatics suites for the interpretation of genomic variants)
  • Commercial resources


Applying for “IRDiRC Recognized Resources”

Criteria to be Fulfilled

The application will be received and reviewed by members of IRDiRC Scientific Committees on an ongoing basis. The criteria which will be used to assess the relevance of the candidate resource are the following:

  • must be within IRDiRC’s focus and mission (mandatory)
  • has multi-national connectivity and audience (mandatory)
  • is functional and accessible with minimal downtime
  • has a development and maintenance team
  • has clear and well-documented terms-of-use and license policies
  • adheres to all relevant ethical and privacy policies and requirements
  • has a process in place for quality control and life cycle management
  • undergoes scientific peer review
  • is financially viable for the following 3 years
  • documents its core impacts (e.g. number of users, number of visits, etc)
  • demonstrates relevant and ongoing activity in sharing and dissemination

Not all criteria are applicable to all candidate resources, except for the first two mandatory ones.

The “IRDiRC Recognized Resources” endorsement is valid for 3 years, upon which it will be re-reviewed for relevance and utility in contributing towards IRDiRC objectives.

Related information: IRDiRC policies and guidelines


To apply for the “IRDiRC Recognized Resources” label, please return the “IRDiRC Recognized Resources Application Form” to


Visibility Package

The resources awarded the “IRDiRC Recognized Resources” label will be highlighted on the IRDiRC website and in the OrphaNews. The resource portal and other communication supports will be allowed to make use of the “IRDiRC Recognized Resources” logo.


“IRDiRC Recognized Resources” Resources

Resource NameTypeDescriptionSubmitted ByDate of SubmissionDate of Approval
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
PhenomeCentralPlatformPhenomeCentral is a repository for secure data sharing in the rare disease community.Michael BrudnoApril 20, 2015October 8, 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
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
Human Phenotype Ontology (HPO)StandardHPO aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease.Peter RobinsonOctober 9, 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
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
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 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 3, 2015April 6, 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
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
Guidelines for the informed consent process in international Rare Disease 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
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
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
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
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
Guidelines for diagnostic next-generation sequencingGuidelineThis 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
The FAIR Guiding Principles document 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

Disclaimer: Please note that the “IRDiRC Recognized Resources” label is not an indicator of ranking of one platform/tool/standard/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.

Page last updated on June 27, 2017