ERN-ITHACA Multidisciplinary Fetal Diagnostics Winter School

 

The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation.

As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the addressed fields with interdisciplinary case discussions.

The course is open to specialists and specialists in training in the fields of clinical and laboratory genetics, bioinformatics, obstetrics, pathology with a special interest in prenatal medicine. The program gathers excellent scientists from ITHACA affiliates and collaborating partners [...]

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60th Annual meeting ESPE 2022

Wednesday 14th until Saterday 17th of September, the 60th annual ESPE meeting was held in Rome. Endo-ERN, together with EuRRECa and EuRR-Bone were represented with a booth where we answered many questions of visitors and made new contacts for our network.

The Endo-ERN Session was hosted by Prof. Olaf Hiort and Prof. Luca Persani and presentations were given by: Prof. Olaf Hiort, Prof. Laura de Graaf, Prof. Nienke Biermasz and Prof. Jérôme Bertherat. Furthermore a fruitful Steering Committee / Advisory Board meeting was organized during which ongoing activities and future plans were discussed.

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EuRRECa/EuRR-Bone Update

ESPE 2022: A few weeks ago EuRRECa and EuRR-Bone joined Endo-ERN at the ESPE 2022 in Rome! We have talked to many interesting people and explained the use and objective of the registries. Research performed with the data collected in the registries was presented in a posters session and presentations. ENEA 2022: The EuRRECa Pituitary study group held its first face to face meeting this year in Lyon. The group welcomed new members and discussed current activities such as the Pituitary Tumour module, active since December 2021, and future plans. Endo-ERN members participating in the registries: to date 39 [...]

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CPMS Open Panels

The Clinical Patient Management System (CPMS) is there for all HCPs to use and contribute to relevant rare endocrine patient panels. Currently, there are 41 open panels in the system, across all of our MTGs.

If you would like to contribute to open panels for your relevant MTG please contact our Operational Helpdesk (OH) for assistance. If you wish to create a patient panel, please see our webpage for help in doing so. We ask all existing Panel Leads to close any open/signed-off panels fully once the discussion [...]

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ERN Clinical Exchange Programme

There are still funds available to organize exchange visits (on top of those already planned). Exchange visits can be planned until 31 December 2022, and implemented until the end of January 2023 at the latest. Then, the present programme will close.

Clinical exchanges can be individual, group visits or group meetings, as long as they have a clinical character. It is also possible to organize exchanges between centers of different ERNs, or even between an ERN and a non-ERN center. The Programme is meant for all professionals, including nurses, technicians, analysts as well as patient representatives. Please contact us [...]

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The ERICA Patient Reported Outcome Measures (PROMs) Repository

The ERICA Patient Reported Outcome Measures (PROMs) Repository is the first attempt to identify and centralize Clinical Assessment Outcomes questionnaires of relevance for rare diseases and constitutes a milestone in the Europe-wide standardization of Patient-Centered Outcome Measures (PCOMs) and PROMs for rare diseases. It has been made possible through the joint collaboration between Orphanet, Mapi Research Trust/ICON and ERN EuroBloodNet (VHIR, APHP), and the active contribution of ERNs and ePAGs. From Endo-ERN prof. Nienke Biermasz (LUMC) have participated in the ERICA WP3 PCEWG (Patient-centred expert working group) and contributed in this first version. Via ERICA you [...]

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ERICA Educational Webinar 2 “Practical guide on how to use the Catalogue of services and the IMT”

In this ERICA webinar, Anton Ussi (Operations & Finance Director at EATRIS), together with Agustin Arasanz Duque (Senior Innovation Manager at EATRIS), will provide practical guidance for using two important tools for RD researchers, developed within EU-funded projects: ERICA and EJP RD. This webinar is part of the Educational Webinar Series from ERICA’s WP5 Translation and Innovation. It builds on the introductory webinar “Current research services available for the rare diseases community” that was organized in November 2021 (available on the ERICA website Continuar a ler

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IRDiRC Announces The Creation of Regulatory Science Committee to Tackle Regulatory Challenges in Rare Disease Research

IRDiRC, a global collaborative initiative with the vision to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention, today announced the formation of the Regulatory Science Committee (RSC). The new RSC “brings broad expertise across different stakeholders and geographies allowing for a balanced synergy that will provide insights and guidance into the advancement of IRDiRCs mission” said David A. Pearce, Chair of IRDiRC.

Read the full press release here: https://irdirc.org/irdirc-announces-creation-of-regulatory-science-committee/

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ERN Research Training Workshops funding opportunity

The ERN Research Training Workshops funding opportunity is now open for applications until October 15th, 2022. The goal of the workshops is to train researchers and clinicians affiliated to ERN- Full  Members or – Affiliated Partners in relevant topics on research in rare diseases. Training themes may include innovative research methodologies, diagnostic research topics, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Moreover, the workshops will be aiming to provide a cross-ERN added value.

The workshops will be delivered as two-day events. The costs for the workshop organization will be covered up to a limit of €25,000 (venue, [...]

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