Event Category: EJP RD Resource Webinars

Speaker: Montse Gustems  Date: 24th of March, 2021 Registration link to receive connection details  Platform summary:  INFRAFRONTIER is the European Research Infrastructure for the generation, phenotyping, archiving and distribution of model mammalian genomes. The core services of INFRAFRONTIER comprise the systemic phenotyping of mouse mutants in the participating mouse clinics, and the archiving and distribution of mouse […]

Speaker: TBD  Date: 25th November   Registration link to receive connection details Platform Summary: Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the […]

Speaker: Esther van Enckevort  Date: 27th October  Registration link to receive connection details Platform Summary: The Sample Catalogue provides an overview of biological samples from rare disease patients that are available for research. The catalogue allows searching for samples based on a limited number of key characteristics such as disease, type of sample and limited demographical data of the patient. […]

Speaker:  Giselle Kerry (TBC) Date:  20th September  Registration link to receive connection details Platform Summary:  The EGA provides a service for the permanent archiving and distribution of personally identifiable genetic and phenotypic data resulting from biomedical research projects. Data at EGA was collected from individuals whose consent agreements authorize data release only for specific research use to bona fide researchers. Strict […]

Speaker: TBD   Date: 22nd July  Registration link to receive connection details Platform Summary: MetaboLights is a database for Metabolomics experiments and derived information. The database is cross-species, cross-technique and covers metabolite structures and their reference spectra as well as their biological roles, locations and concentrations, and experimental data from metabolic experiments. MetaboLights is the recommended Metabolomics repository for several leading journals.  Learning Objectives: Participants will be introduced metabolomics […]

Speaker: Nancy Mah  Date: 21st June  Registration link to receive connection details Platform Summary:  The human pluripotent stem cell registry (hPSCreg: https://hpscreg.eu/) maintains a data resource to track the usage of human embryonic and induced pluripotent stem cell lines from research to clinical applications. Over 3400 hPSC lines have been registered (as of February 2021), with approximately a quarter of the lines originating from donors with […]

Speaker: Julia Foreman  Date: 27th May  Registration link to receive connection details Platform Summary:  DECIPHER is an online data-sharing platform facilitating the visualization and contextualization of rare disease genomic and phenotypic relationships, to enable diagnosis and discovery. More than 250 academic clinical genetic centers and research centers from across the world deposit and share data through the platform. It currently openly shares >38,000 rare […]

Speaker: Amos Bairoch  Date: 26th April  Platform Summary: Cell line knowledge resource. While the Cellosaurus caters for all kind of  cell lines, this webinar will emphasize its use in the context of RD. Currently the Cellosaurus contains ~33,000 cell lines that are relevant to 1150 different rare diseases. The entries contains a wealth of variation information relevant to 940 […]