Disease or Translational Resources
In this section you will have the opportunity to explore information regarding:
Patient registries,
Natural history,
Patients’ information as organizations, toolkits for patients, new-born screening programs, undiagnosed diseases programs (UDPs), EU planned cross-border treatment
Target Patient Value Profile
Databases/Tools (ODDG)
Networks
Biobanks
Biomarkers (Development, guidelines, validation, qualification, genomic, cancer, pain therapeutics)
Rare Disease Analyser GitHub repository
Published by Konstantin Emil Thiel (EBStatMax)
Research and Drug DevelopmentClinical Trial DesignPatient DataSource code of the Rare Disease Analyser, the webapp that implements statistical methods for rare diseases
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User Manual for the Rare Disease Analyser
Published by EBStatMax team
Research and Drug DevelopmentClinical Trial DesignPatient Data
European Patients’ Academy (EUPATI) toolbox
Published by IRDiRC
Research and Drug DevelopmentOrphan DrugPatient InformationToolkit for PatientEUPATIToolboxPatient TrainingThe EUPATI Academy is the only in-depth training program for patient experts so far in EU that lasts 14months.
It includes an on online training program supported with two weeks of F2F training. The Academy is still operated by EPF, providing high quality training in drug development to patient from EMEA.
In vitro diagnostics BIC Regulatory Guide
Published by Biomarker Commercialization (BIC) consortium
BiomarkerRegulatoryIVD Biomarker Assay DevelopmentResearch and Drug DevelopmentThe BIC In Vitro Diagnostics Regulatory Guide introduces researchers and entrepreneurs to basic understanding of the regulatory process for CE mark of IVD diagnostics, along with the development of the project toward a clinical product
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Initiatives for undiagnosed diseases
Published by IRDiRC
Research and Drug DevelopmentPatient InformationUndiagnosed Disease ProgrammeGenetic ConditionGenotype and Phenotype MatchmakingThe purposes of Undiagnosed Diseases Programs (UDPs) are to provide patients with an unknown genetic condition a diagnosis and to find the correlation between genotype and phenotype; to share globally the information to facilitate the diagnosis through a matchmaking for finding possible second cases
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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.
View this resource Bookmark this resourcethe Biobanco Nacional de Enfermedades Raras (BioNER) website’s objective is to provide quality biological samples to support national and international rare diseases research. The Spanish Health Institute Carlos III (ISCIII) is the head of BioNER, being its operational and functional management and direction attributed to Instituto de Investigación de Enfermedades Raras (IIER). BioNER entered in el Registro de Biobancos with registration number B.0000886 on November 14th 2013 and the file that controls and stores the data is also registered with the Spanish Data Protection Agency (AEPD) under number 2060180217, on July 5th 2012, under the name of “Registro de Enfermedades Raras y Banco de Muestras”.
View this resource Bookmark this resourceEuroBioBank is a unique network of biobanks that stores and distributes quality DNA, cell and tissue samples for scientists conducting research on rare diseases. The network consists of 25 RD biobanks located in 11 countries.
View this resource Bookmark this resourceThis website offers a set of free biomarker commercialization tools to help researchers, small and medium sized companies (SMEs), and technology transfer offices (TTOs) tackle the highly regulated and interdisciplinary landscape of in-vitro diagnostics applicable biomarkers, i.e., markers intended to provide information on the health status of a person.
The tools guide researchers and product developers through the technology readiness levels (TRL) and remind about the technical, regulatory, and business aspects of the innovation process.
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