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…

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ERN Workshop on Rhabdoid tumors in clinic and research: From basic biology to the patient bed

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In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Rhabdoid tumors in clinic and research: From basic biology to the patient bed” aimed at discussing the current clinical standard of treatment in rhabdoid tumors, as well as the controversies in the rhabdoid tumors regimen is being organized by Dr. Pascal Johann of the Universitätsklinikum Augsburg. The in-person event will…

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IRDiRC releases State of Play 2019-2021

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The International Rare Diseases Research Consortium (IRDiRC) is pleased to announce today the release of its Rare Diseases Research Initiatives State of Play 2019-2021 Report. This report is based on scientific articles and press releases published between 2019 and 2021; it seeks to inform stakeholders and the rare diseases community about the developments and observed…

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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…

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EJP RD launches Innovation Management Toolbox (IMT)

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EJP RD is delighted to announce the launch on June 30th, 2022 of the Innovation Management Toolbox (IMT), a free-to-use and curated reference library of resources in rare disease translational medicine that will provide investigators with self-help resources specific to their needs. The database will be maintained actively! Learn about the IMT: https://www.ejprarediseases.org/innovation-management-toolbox/ Access the…

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ERN eUROGEN webinar: Williams-Beuron Syndrome: A Focus on Long-Term Patient Care

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ERN eUROGEN, ERN ITHACA and ERN ERKNet are organising a webinar on July, 6th 2022, at 18:00 CEST.  You can register here: https://register.gotowebinar.com/register/4452634388200656141 During this event, aimed at both healthcare professionals and patient organisations, all uro-nephrological and cardiological aspects of Williams-Beuren Syndrome will be discussed, including clinical scenarios.

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ERN eUROGEN webinar: Summer ’22 Update

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ERN eUROGEN is organising a webinar on June, 29th 2022, at 18:00 CEST. This webinar will provide an overview of their activities and an update on the network’s most recent developments. You can register here : https://register.gotowebinar.com/register/4850315649781014540 The event will cover the development of the ERN eUROGEN registry, new features of the clinical patient management system (CPMS) and the possibilities available within…

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New video available on EJP RD Youtube channel

EJP RD News

The webinar on « Composite endpoints including patient relevant endpoints (Quality of Life) » is now available here In this webinar you will learn about: The procedures to combine multiple endpoints and its limitations The properties and the flexibility of the class of generalized pairwise comparison tests The potential advantages and disadvantages of designing a clinical trial…

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