Table 1. IRDiRC Recognized Resources.
| Resource name | Type | Description |
|---|---|---|
| Facilitating international data sharing | ||
| International Charter of Principles for sharing Bio-specimens and Data | Guideline | The Charter provides recommendations for successful legally and ethically grounded sharing of bio-specimens and data |
| 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 |
| PhenomeCentral | Platform | PhenomeCentral is a repository for secure data sharing in the RD community, thereby connecting to other patient’s profiles |
| DECIPHER | 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 |
| Knowledge organization and ontologies | ||
| Orphanet | Reference/database | Orphanet is a reference portal for information on RDs and orphan drugs |
| OMIM | Reference/database | Online Mendelian Inheritance is a database of human genes and genetic phenotypes comprised of over 23 000 structured free-text entries |
| Orphanet Rare Disease Ontology | Platform | Orphanet Rare Disease Ontology provides a structured vocabulary for RDs thereby aiming to define relationships between diseases, genes and other features of interest |
| Human Phenotype Ontology | Standard | Human Phenotype ontology provides a standardized vocabulary of phenotypic abnormalities encountered in human disease |
| International Consortium of Human Phenotype Terminologies | Standard | The International Consortium of Human Phenotype Terminologies 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 RDs |
| Networking patient registries | ||
| TREAT—NMD Patient Registries | Platform | The TREAT—NMD Patient Registries is a global network of national registries that provides a unique entry point for access to rare neuromuscular disease patients worldwide |
| Therapeutic development | ||
| Standard operating procedures for pre-clinical efficacy studies | Guideline | Standard operating procedures for pre-clinical efficacy studies are a compilation of experimental protocols to measure drug efficacy in models of neuromuscular disease |
| Care and Trial Site Registry | Platform | The Care and Trial Site Registry aims to assist pharmaceutical industry and clinical investigators in deciding on clinical trial site location and in the identification of potential partners for future research projects |
| TREAT—NMD Advisory Committee for Therapeutics | Advisory Committee | TREAT—NMD Advisory is a group expert from various origins (academic, industry drug development, patient representatives and governmental representatives) that provide guidance on the translation of therapeutics programs in rare neuromuscular diseases |
Abbreviations: OMIM, Online Mendelian Inheritance in Man; RD, rare disease.