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.
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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.
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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.
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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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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Rare Diseases: Natural
History Studies for
Drug Development Guidance for Industry
Published by FDA
Rare DiseaseNatural HistoryThis guidance is intended to help inform the design and implementation of natural history studies that can be used to support the development of safe and effective drugs and biological products
for rare diseases. Although the focus of this guidance is rare diseases; the recommendations in the guidance may be applicable to drug development for nonrare diseases.
Orphanet database
Published by IRDiRC
Research and Drug DevelopmentOrphan DrugRare DiseaseDatabase or Tool OrphanetDatabaseOrphanet is a unique public resource worldwide, gathering and improving knowledge on all rare diseases (RD), affecting less than 1 in 2’000 people in the European population.
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Challenges and opportunities with Drug Repurposing: finding strategies to find alternative uses of therapeutics
Published by Expert Opinion on Drug Discovery
Research and Drug DevelopmentIntellectual PropertyDrug DiscoveryDrug RepurposingBig DataRare DiseaseNeglected DiseaseCrowdfundingPrecision MedicineArticle that cover the most significant challenges and opportunities in Drug Repurposing.
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Alternative designs for Small Population Clinical Trials
Published by IRDiRC
Regulatory AffairsClinical DevelopmentClinical Trial DesignClinical TrialRare DiseaseSmall PopulationAdaptative PathwaysGuidance and general recommendations are available to select the most efficient study design for each medical condition or trial, and on potential adaptions of conventional designs to the low sample size scenario.
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