Undiagnosed Day 2026| Where diagnosis becomes hope: The power of collaboration and technology in rare diseases
Thursday, 30 April, 2026, University Clinical Centre (UCK), Gdansk, Poland
This in-person meeting will focus on practical approaches to phenotyping and diagnosis in undiagnosed conditions, including how to define next steps when a diagnosis remains uncertain, and how to strengthen pathways and collaboration around undiagnosed care.
Find out more at the ERDERA website including speakers, topics and registration information.
Continue reading →
The FIRENDO network will award a grant for the 2026-2027 period to fund a collaborative research project between a FIRENDO member institution and a healthcare provider (HCP) that is a member of the ENDO-ERN (European Reference Network for Rare Endocrine Conditions) outside of France.
The grant aims to stimulate international collaborative clinical, translational, or basic research projects between:
a FIRENDO member institution (clinical or research laboratory, clinical department, patient association) – directory available here,
and an institution accredited as an Endo-ERN (European Reference Network for Rare Endocrine Diseases) HCP outside of France – Continue reading →
An updated brochure presenting the European Reference Networks (ERNs) is now available.
ERNs are 24 thematic networks connecting specialised healthcare centres across Europe to improve the diagnosis, care and treatment of people living with rare, low-prevalence and complex diseases. By bringing together medical expertise, research and patient perspectives, ERNs help ensure that knowledge travels — not patients.
The brochure provides an overview of how ERNs work, the role they play in improving care across borders, and highlights each of the 24 networks, including Endo-ERN, which focuses on rare endocrine conditions.
Through collaboration, [...]
Continue reading →
Endo-ERN is proud to endorse the It-DSD 16th annual meeting being held 18 April at Hercolani Palace, Bologna, Italy. To register contact Federico Baronio by email.
9:00 Start of the event
9:15 – 9:30 Androgen Insensitivity Syndrome (AIS): Introduction
F. Baronio, A. Balsamo, F. D’Alberton
Greetings from authorities: Prof. M. Lanari (IRCCS AOUBO), Prof. M. Domini (IRCCS AOUBO), Prof. A. Gambineri (IRCCS AOUBO Endo-ERN)
9:30 – 10:00 Twenty Years of AISIA: An Ongoing Story
AISIA – MT Gallea
10:00 – 10:30 AIS: Genetics and Clinical Phenotypes (G. Russo, M.F. Bedeschi)
10:00 – [...]
Continue reading →
Save the date and register now for the Endo-ERN X Endocrine Connections Genetic Testing Approaches as the Basis for Personalized Medicine taking place Wednesday 10 June at 16:30-17:30.
The Changing Landscape of Genetic Testing in Rare Endocrine Conditions (15 min)
-Thomas Eggermann, Co-Chair Endo-ERN Genomic Testing WG
From Testing to Tailored Management (15 min)
Dirk Prawitt, Co-Chair Endo-ERN Genomic Testing WG
European Collaboration and Future Perspectives (15 min)
– Role of registries including national registries and data sharing
Speaker Luca Persani, Italy
Panel Discussion/Q&A (5 min)
Continue reading →
Are you attending the European Congress of Endocrinology (ECE) taking place in Prague 9-12 May, 2026?
If so please let us know if you are presenting or would like to attend the Endo-ERN dinner which is currently planned Sunday, 10 May by completing the survey below. The dinner (details TBD) will be on your own costs and will a great opportunity to meet colleagues in the network.
HCP members survey
ePAG survey
Find out more about the symposium that will take place Tuesday, 12 May 11:20-12:50.
If you are presenting don’t forget [...]
Continue reading →
This session is dedicated to the presentation of the International Recommendations on the evaluation and management of persistent hypoglycemia in neonates, infants, and children. The session will be held in Italian but the slides will be written in English. Persistent hypoglycemia in early life represents a significant clinical challenge due to its heterogeneous etiologies, the difficulty of recognition -particularly in neonates and young infants-and the risk of severe and permanent neurological injury if diagnosis and treatment are delayed. While guidance is available for the management of transient hypoglycemia in the immediate postnatal period, standardized recommendations for persistent and recurrent hypoglycemia [...]
Continue reading →
More than 30 million people in Europe live with a rare disease today. Although rare diseases are often perceived as modern medical challenges, scientific research now confirms that they have affected humans for thousands of years.
This long history is illustrated by a recent study published in The New England Journal of Medicine, co-authored by Adrian F. Daly, Internist-Endocrinologist and Researcher at the CHU de Liège, Liège University, Belgium and Endo-ERN expert. The study reports the genetic diagnosis of a rare disease affecting growth in a family who lived more than 12,000 years ago, using advanced ancient [...]
Continue reading →
This endorsed Endo-ERN event is taking place 6-7 March, 2026 at Western Plus Tower Hotel, Via Lenin, 43| Bologna.
English programme Italian Programme
Continue reading →
Register now for a joint ERN-EYE X Endo-ERN webinar taking place at 17:30 (CET) on Friday 27 February, Blepharophimosis Syndrome (BPES): Integrating Genetic, Endocrinological Ocular, and Patient Perspectives.
Check out the full programme and speakers below:
Chair: Prof. Dr. Elfride De Baere, Ghent University Hospital, Belgium.
Genetic basis of BPES and implications for genetic counseling, Prof. Dr. Elfride De Baere, Ghent University Hospital, Belgium.
Ovarian development, fertility considerations, and hormonal follow-up, Prof. Sophie Christin-Maitre, Sorbonne University, Paris.
Overview of Surgical Approaches in Blepharophimosis-Ptosis,Epicanthus Inversus Syndrome (BPES), Dr. Christian Decock, Ghent AZ Maria Middelares, Belgium.
Lived experience [...]
Continue reading →
