Inspiration and innovation were the driving forces behind Dr Dirk Jan Stenvers application to the ERN Exchange Programme.
Dr Stenvers, a clinical endocrinologist at Amsterdam UMC, had his interest piqued by recent publications and congress presentations by the Endocrinology team at University Hospital Basel, Switzerland. Development of copeptin-based diagnostic tests for arginin vasopressin deficiency (previously known as diabetes insipidus) is just one example of innovations that the UHB team are working on. Copeptin based tests are a welcome alternative to the water deprivation test which is a challenging experience for most patients.
Over the course of 4 days, exchange host [...]
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This survey aims to collect information on the status quo on ERNs and Clinical Research.
It is developed by ERICA WP4 Clinical Trial Support on the basis of the previous survey delivered in 2018.
The results of the two surveys will be compared to provide a more comprehensive state-of-the-art of ERNs and clinical research.
The survey is addressed both to ERN Coordinators and their ERN HCP members.
Please fill in the survey here: https://ec.europa.eu/eusurvey/runner/ERICAsurvey
The survey will be open until 15th June.
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Under Horizon Europe, the European Commission together with member states and associated countries decided to implement the Rare Diseases Partnership which brings a unique vision that aims at leaving no one behind by supporting robust patient need-led research, by utilising and maximising the power of health and research data, by engaging and coordinating regional, national, EU and international alignment in order to accelerate the development of new treatments and diagnostic pathways.
To build its strategy on the voice and input of all stakeholders and as part of the preparatory process of this future Rare Diseases Partnership (foreseen start in 2024) [...]
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One of the aims of Endo-ERN is to share the expert across the network and beyond. We are fortunate that our members are very active and sharing their expertise.
We are delighted that Claus Gravholt, Aarhus University Hospital will share his expertise with the webinar Klinefelter syndrome – from genomics to the clinic on Thursday, 31 August at 1600.
The webinar will cover several aspects including:
Diagnostics Genetics and implications for future genotype-phenotype relations Epidemiology Issues in childhood Morbidity in adulthood Testosterone treatment and the effect on morbidity
Register now using the link below.
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Register now for this webinar planned by members of Endo-ERN’s Main Thematic Group 8 Thyroid & endorsed by the European Thyroid Association.
Event chairs: H.M. van Santen, MD PhD, Pediatric Endocrinologist & J. Léger, MD PhD, Pediatric Endocrinologist
1600 Welcome & Introduction, Chairs
1605 Pediatric thyroid nodules: epidemiology, risk factors and differential diagnosis, S.C. Clement, MD PhD, The Netherlands
1620 Why is the workup of the pediatric nodule different than the adult nodule, and its differentiation of thyroid cancer, C.A. Lebbink, MD PhD, The Netherlands
1635 Diagnostic performance of adult-based TIRADS ultrasound risk stratification systems in pediatric thyroid [...]
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A webinar is taking place that may be of interest to Endo-ERN members. Check out the agenda and speakers:
Towards the future of rare disease diagnostics
08.30 AM – 10.15 AM | Chair: Ana Rath & Gulcin Gumus
Keynote lecture: Towards a personalised systems biomedical approach for the diagnosis of inherited metabolic diseases
Ines Thiele, University of Galway
Keynote Lecture: Hyperpersonalized therapies for the long tail of genetic disease
Timothy Yu, Boston Childrens Hospital & Harvard Medical School
Looking further: Patient organizations and advancing RD research on diagnosis
Gulcin Gumus, Eurordis
SOLVE-RD 2.0
Olaf Riess, University of Tübingen [...]
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Register now for a case based discussion featuring experts from Endo-ERN reference centre Istituto Auxologico Italiano – Istituto di Ricovero e Cura a Carattere Scientifico (Milan, Italy). Puberty induction in the two sexes: a case based discussion will cover the following topics:
Puberty induction in males Prof. Marco Bonomi and Dr. Giovanni Goggi
Puberty induction in females Dr. Biagio Cangiano and Dr. Silvia Federici
This will be an interactive session and questions please be possible.
This webinar is organized by Endo-ERN’s MTG7 which is dedicated to Disorders of sex development (DSD) and the Disorders of sex maturation [...]
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Endo-ERN is hosting a series of webinars to showcase the programmes and resources that are available to support the rare disease community. Do you have a Clinical Patient Management System (CPMS) log-in but have yet to use the platform for a virtual consultation? This is the webinar for you!
Endo-ERN Helpdesk Manager Emily White will cover the following topics:
Virtual consultations in rare disease How to access a virtual consultation The role of HCP/reference centres in virtual consultations Secure technology: Clinical Patient Management Program (CPMS) Q&A
If you cannot currently log-in to the CPMS system, or do not have a [...]
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Endo-ERN is hosting a series of webinars to showcase the programmes and resources that are available to support the rare disease community. Do you have a Clinical Patient Management System (CPMS) log-in but have yet to use the platform for a virtual consultation? This is the webinar for you!
Endo-ERN Helpdesk Manager Emily White will cover the following topics:
Virtual consultations in rare disease How to access a virtual consultation The role of HCP/reference centres in virtual consultations Secure technology: Clinical Patient Management Program (CPMS) Q&A
If you cannot currently log-in to the CPMS system, or do not have a [...]
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Over 150 members of Endo-ERN gathered at the Amsterdam UMC earlier this month for the annual Endo-ERN General Assembly (GA). The was the first in-person meeting of our members since 2019.
It was a productive 2 days with nearly 20 interactive sessions. Our members were very engaged with valuable presentations from external speakers that included:
Landscape of Rare Disease Research in Europe, Christina Kyriakopoulou, European Commission and Mari Murel, ERICA
Best Practise Designing Clinical Trials for Rare Endocrine Disease, Ralf-Dieter Hilgers, University Hospital Aachen
ESE &ESPE Rare Disease Committee Update Other sessions focused on network activities including main thematic groups [...]
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