Training Course: Quality assurance, variant interpretation and data management in the NGS diagnostics era

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As part of the training activities proposed by the EJP RD, a 3-day training course titled “Quality assurance, variant interpretation and data management in the NGS diagnostics era” is being organised by Universitätsklinikum Tübingen, in close collaboration with EJP-RD task partners, aimed the international research community: clinicians, medical specialist, laboratory scientists (EBMG-registered), junior laboratory scientists, clinical geneticists, policy…

Science Webinar series – Combating the fragmentation of data and disciplines: Innovation hubs to address rare diseases

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The recording of Science’s webinar on innovation hubs as a viable option to address rare diseases, that took place on May 26th, is now available to watch on their website. This webinar brings together key opinion leaders to discuss the current and future needs of patients, and how innovators, doctors, scientists, drugmakers, and policymakers can…

Chan Zuckerberg Initiative hosts Networking Expo for Patient-Partnered Collaborations (PPC) for Rare Disease

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Earlier this year, the Chan Zuckerberg Initiative (CZI) launched two Requests for Applications (RFA) for grant opportunities that will fund collaborative teams bringing together patient-led rare disease organizations and research teams for 4-year research projects aimed at advancing our understanding of the fundamental science of rare diseases. The Networking Expo is a two-day ideation and matchmaking workshop specifically designed…

Rare Conversations 2022 webinar series: Game changing opportunities for the R&D community to address existing challenges in rare diseases

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Rare Conversations invites you for the inaugural episode of the new Rare Conversations event series in 2022, aimed at powering the next decade of rare disease innovation in Europe. The first episode will be focused on game-changing opportunities for the R&D community to address existing challenges in rare diseases. The aim is to understand what is the basis…

Registration closes soon for virtual conference on genomics of rare disease

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The 16th Genomics of Rare Disease Conference is being organized a virtual event targeted towards professionals in genomics research and clinical care, and aims to discuss how genomic science and advanced technology can support research to improve clinical practice in rare diseases. The fully online conference will take place over two days on March 28th – 29th from 13.00 – 18.00 CET. Registration…

11th European Conference on Rare Diseases and Orphan Products (ECRD) 2022: Poster abstract submission

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The 11th European Conference on Rare Diseases and Orphan Products (ECRD) 2022 is being organized by EURORDIS and co-organized by Orphanet, with EJP RD serving as a full partner. The ECRD is a patient-led rare disease policy event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape goal-driven rare disease policies. The fully online conference will take place…

International Summer School 2022: Rare Disease Registries and FAIRification of Data

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As part of the training activities proposed by EJP RD, the International Summer School on Rare Disease Registries and FAIRification of Data is a 5-day training programme organised by Istituto Superiore di Sanità (ISS) in close collaboration with EJP-RD task partners, aimed at the international research community, clinicians, medical specialists, registry curators, database managers, healthcare professionals and rare disease patients’ representatives.…