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
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 Name||Type||Description||Submitted By||Date of Submission||Date of Approval|
|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|
|PhenomeCentral||Platform||PhenomeCentral is a repository for secure data sharing in the rare disease community.||Michael Brudno||April 20, 2015||October 8, 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|
|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|
|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|
|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|
|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|
|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 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 3, 2015||April 6, 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|
|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|
|Guidelines for the informed consent process in international Rare Disease 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|
|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|
|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|
|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|
|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|
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