a list of 1415 rare diseases that are related to EMMA strains. Please use the search bar to search for rare diseases, gene name, ORPHAcode or EMMA strain.
View this resource Bookmark this resourceRare Disease
FAIR principle for data use
Published by IRDiRC
Research and Drug DevelopmentRare DiseasePatient RegistryFAIRGuidelineLack of ultimate data use in rare disease created many silos slowing down development. The FAIR is coming to bridge this gap by proving essential guidelines for optimal data use.
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New-born screening programs
Published by IRDiRC
Research and Drug DevelopmentRare DiseasePatient InformationGenetic ConditionNewborn Sreening ProgrammeThe purpose of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible and possibly before onset of symptoms. Such detection allows the early treatment which may significantly modify the natural history of the disease and potentially prevent developmental delays, physical disabilities and eventually death.
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Development of new effective therapies for rare diseases
Published by European Commission (EC)
Rare DiseaseGrantThis topic aims at supporting activities that are enabling or contributing to one or several expected impacts of destination 3 “Tackling diseases and reducing disease burden”. To that end, proposals under this topic should aim for delivering results that are directed, tailored towards and contributing to some of the following expected outcomes:
Researchers and developers make the best use of the state-of-the-art knowledge and resources for a fast and effective development of new therapies for rare diseases.
Researchers and developers increase the development success rate of therapies for rare diseases by employing robust preclinical models, methods, technologies, validated biomarkers, reliable patient reported outcomes and/or innovative clinical trials designs.
Developers and regulators move faster towards market approval of new therapies for rare diseases (with currently no approved treatment option) due to an increased number of interventions successfully tested in late stages of clinical development.
Healthcare professionals and people living with a rare disease get access to new therapeutic interventions and/or orphan medicinal products.
FDA Expedited Program for serious conditions – Fast Track Designation
Published by IRDiRC
Regulatory AffairsEarly Access SupportRare DiseaseRegulatory AdviceFast Track DesignationExpedited ProgrammeProcess designed to facilitate the development and expedite the review of drugs to treat serious conditions and fill an unmet medical need.
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New-born screening programs
Published by IRDiRC
Research and Drug DevelopmentRare DiseasePatient InformationGenetic ConditionNewborn Sreening ProgrammeThe purpose of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible and possibly before onset of symptoms. Such detection allows the early treatment which may significantly modify the natural history of the disease and potentially prevent developmental delays, physical disabilities and eventually death.
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NCATS Toolkit for Patients-Focused Therapy Development
Published by IRDiRC
Research and Drug DevelopmentRare DiseaseToolkit for PatientNCATS ToolkitPatient-FocusTherapy DevelopmentThe NCATS Toolkit for Patient-Focused Therapy Development (Toolkit) was developed through a collaboration between NCATS and rare diseases patient groups. The patient groups had expressed an interest in exchanging knowledge and sharing best practices in therapy development
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FAIR principle for data use
Published by IRDiRC
Research and Drug DevelopmentRare DiseasePatient RegistryFAIRGuidelineLack of ultimate data use in rare disease created many silos slowing down development. The FAIR is coming to bridge this gap by proving essential guidelines for optimal data use.
View this resource Bookmark this resourceThis document summarises the conference “Medicines for Rare Diseases and Children: Learning from the Past, Looking to the
Future”
Designated Intractable Diseases (Designated Nan-byo)
Published by IRDiRC
Regulatory AffairsEarly Access SupportRare DiseaseMHLW or PMDA RegulatoryNan-byo DesignationAct on Medical CareDefinition of designated Nan-byo is provided in the law named “Act on Medical Care for Patients with Intractable/Rare Diseases”. Patients with designated Nan-byo can receive financial support for medical treatment
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