|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|
|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|
|The FAIR Guiding Principles document 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|
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FDA disclaimer: FFDA 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: December 8, 2017