Endo-ERN ePAG Johan de Graaf continues to raise awareness of rare disease with his data-based storytelling. He was recently invited to join the faculty of the EURORDIS Open Acacdemy that will take place 3-7 June in Barcelona.
In addition he will present results on the quality of neurosurgery in the Netherlands at the CAPITAL coure taking place at the Leiden University Medical Center (LUMC) next month.
Endo-ERN ePAGs are involved in all aspects of the work of Endo-ERN. In addition they are very engaged in their own organizations and local community activities. Petra is very involved in the pituitary and adrenal communities and shared the following highlights:
At the national congress of the Network for Pituitary and Adrenal Disorders an event was organized specifically for MEN patients. In addition, there was a lecture on aspects of endocrine surgery in MEN patients and recommendations for screening. Dr Antje Redlich, co-chair of MTG 4 and active in Magdeburg, also gave an interesting lecture on MEN 2. This [...]
Register now for this upcoming webinar on Tuesday, 2 April. Featuring Robert Semple Professor of Translational Molecular Medicine at the University of Edinburgh this webinar will provide attendees the opportunity to ask questions directly.
Single gene forms of severe insulin resistance both require careful management in their own right, and also offer insights into the nature of common disease. They may be grouped into primary insulin signalling defects (e.g. affecting INSR, PIK3R1), primary lipodystrophies (e.g. affecting BSCL2,AGPAT2,PPARG,LMNA) and then a complex group of syndromic conditions whose mechanisms are poorly understood. In this seminar a subgroup of such complex and extreme [...]
In the tradition of our biennial workshop held as a satellite to the ESHG conference, we are pleased to invite you once again to a face-to-face meeting in Berlin on 31 May and 1 June 2024.
Main topics shall be:
Nosology of RASopathies New insights into the molecular basis of RASopathies Genotype phenotype correlations Clinical aspects (cardio-vascular, hemato-oncological, growth, metabolic, neurodevelopmental) Innovative treatment approaches in model systems and clinical useAs for the previous meetings, the organisers will ask selected experts to present their research, but we will also have some free slots and therefore welcome the submission of abstracts [...]
Jette Kristensen, President of Addison Foreningen Danmark (Danish Addison Patient Association) and Endo-ERN ePAG was kind enough to share this example of European cooperation, which showcases the power of patient networks.
Travelling abroad – and then finding out you’ve forgotten your medication. It’s a nightmare scenario for any Addison’s patient.
But that’s exactly the situation Holger, one of our members, found himself in when he went on holiday to Italy in August this year: he had forgotten his Florinef. He posted a message in our Facebook group asking if anyone else had experienced the same thing and if so, [...]
Have you registered for the Endo-ERN General Assembly? This event will take place 23-24 April in Milan, Italy at the Radisson Blue Hotel.
The deadline for our special event rate for hotel rooms has been extended until February 22, 2024. You can find out more about programme and how to travel to the event at our dedicated GA section on our website. Click here to explore.
We look forward to seeing you in Milan!
The European Economic and Social Committee (EESC) organised a memorable conference on Rare Diseases and European Reference Networks (ERNs) under the auspices of the Spanish Presidency of the Council of the EU and in cooperation with the authorities of the Basque Country, on 11 October 2023 in Bilbao. Endo-ERN staff from the project office were in attendance.
The conclusions of the conference are now available on the on the event’s webpage, where you will also find reports, photos, presentations, recordings and press articles.
The hope is that this event will be followed by many more projects where [...]
The EMA’s Orphan Medicines Office is hosting an interactive webinar on Rare Disease Day on 29 February 2024, to answer questions that developers of products for rare diseases or researchers in this field might have on orphan designations and rare disease development. The webinar will feature:
short presentations on the background of orphan designation and the benefits it has brought to patients; a live question-and-answer session enabling participants to ask their questions on orphan medicines development to a panel of regulatory experts.More info: Orphan medicines development – ask the European regulator | European Medicines [...]
This training event aims to support non-commercial sponsors of clinical trials in transitioning their clinical trials that are expected to continue after 30 January 2025 from the Clinical Trials Directive to the EU Clinical Trials Regulation (Regulation (EU) No 536/2014). Moreover, the event will provide useful training in preparing new clinical trials following the Clinical Trial Regulation (CTR).
From 31 January 2025 onwards only the CTR and its Delegated Acts will apply. Sponsors, therefore, need to transition any trials that will continue after 30 January 2025 from the Clinical Trials Directive to the legal framework [...]
The next ESE Talks…webinar is Tuesday 6 February 2024, 17:00 – 18:15 CET
Chairs: Edward Visser (The Netherlands) and Athanasia Stoupa (France)
Fetal thyroid disorders
Dominique Luton (France)
Primary congenital hypothyroidism
Nadia Schoenmakers (UK)
Secondary congenital hypothyroidism
Paul van Trotsenburg (The Netherlands)
Panel/group discussion
Led by Edward Visser (The Netherlands) and Athanasia Stoupa (France)
