Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS) providing guidance for the relevant experts.
“This consensus statement also emphasizes on initial diagnosis, monitoring and lifelong follow-up, and symptomatic care that can be provided to patients and family members according to the involved care professionals.”
Endo-ERN ePAG Bernd Rosenbichler shared a recent event organised by a local representative that featured his talented son Ben.
“Erich Irlstorfer, member of the German Bundestag, took up the topic of rare diseases almost 1.5 years ago – as a non-partisan initiative. He organized over 60 events with several thousand participants on the topic of Rare in Bavaria. He is in talks with European politicians to give the topic even more space. Other German states are following and also taking action. He brings his experiences and demands to the German Bundestag and to the political committees.
On July 13, he [...]
The Joint Action on Integration of ERNs into National Healthcare Systems (JARDIN) project has put out their first Bullet Point Newsletter. JARDIN is a huge and complex project that is met with very high expectations from the EC and member states. Check it out!
The Endo-ERN covers under its umbrella a broad range of endocrine disorders, and a significant number of these entities are caused by genetic variants. The underlying disorders are commonly rare and research, diagnostic testing and treatment are fragmented. Clinically, the disorders covered by Endo-ERN are heterogeneous, as are their genetic basis.
However, the genetic mechanisms behind the disorders as well as the genetic testing strategies are very similar. The last years have seen considerable improvement of genetic testing and – as a consequence – of the development and implementation of personalized treatment strategies.
The need to implement and run [...]
July 2025 The survey is now closed and the research complete.
Walden University in Minneapolis, Minnesota, USA has a new study about the experiences of managing and living with autoimmune Addison’s disease in the younger and newly diagnosed adults. Researcher Mathew Horodner is seeking English speaking patients aged 18-30 for a video interview that will audio-recorded.
The criteria has been expanded and you may now qualify to particpate. Check out the new flyer or contact researcher Mathew Horodner.
The new CPMS 2.0 system went live 31 May, 2024.
For the next few months Endo-ERN will continue to use the original CPMS, as we start preparation for a network-wide migration to the new CPMS 2.0 system. Existing users will automatically have an account in the new system once data migration occurs, using their same login details for EU login. If you want to test the system ahead of our network’s formal migration, please contact our helpdesk.
With the new system comes formal steps for each of our member HCPs. The new system security documentation will be shared [...]
Exciting News! The EJP RD course “Innovative Therapies and Personalized Medicine for Rare Diseases” is officially live! Explore cutting-edge advancements in gene therapy, regenerative medicine, and beyond. Be a part of the revolution in rare disease treatment! Enroll now.
This course is a free course until Monday, 12 August.
The aim of the survey is to identify needs and priorities of academic stakeholders involved in clinical trials, integrating them into the work of ACT-EU. It seeks to address challenges in conducting clinical trials in the EU faced by ERNs and academics, highlight topics needing further clarification or discussion, and propose solutions for improving and accelerating clinical trials. Academic stakeholders are encouraged to contribute ideas for improvement across various aspects of clinical trial governance and implementation, clinical trial methodologies and data analytics, regulatory processes, safety monitoring, training, and emergency preparedness.
Please make your contribution to the survey [...]
The Alström Syndrom e.V. invites you to a benefit concert in Landau-Wollmesheim, Germany on Friday, 12 July, at 5.00 pm.
Alström syndrome is one of around 8000 rare diseases. The association is committed to networking the few people affected, for better medical care and for more awareness of all rare diseases. Proceeds from the concert will help to achieve these goals. Above all we want to celebrate life and are looking forward to a wonderful summer evening with great live music!
The Frankenthal duo Sillis will be performing refined acoustic rock’n’pop with two voices, a guitar and a violin. In [...]
Attention Endo-ERN representatives! You are invited to participate in this important two-year project to develop a new ESE position statement: Self-management and support services for patients with Adrenal Insufficiency (AI).
This two-year project aims to:
Evaluate factors that influence self-managment for patients with AI (international cross-sectional survey adapted and translated in several languages) Explore current patient educaiton approaches and support services across Europe Develop an evidence-based Euorpean Position Statement using Delphi research methodologyYou are invited to participate as a:
Principle Investigator to recruit patients with AI from your centre or country Patient advocacy group representives to disseminate the survey [...]