Save the date and register now for this upcoming Workshop on Patients’Rights and Rare Disease in the European Union. Check out the agenda and register for online participation or you can attend in person in Prague, Czechia.
REGISTER: Diagnosis and management of TSH resistance
REGISTER now for this webinar scheduled for Tuesday, 7 October 17:00-18:00 (CEST).
This webinar will discuss pathophysiology, diagnosis and clinical management of TSH resistance.
Chair MTG8 co-chair Edward Visser, the Netherlands
Presentation outline:
Luca Persani Italy: Introduction (5 minutes) Elisa Grassi: Genetic and molecular studies (10 minutes) Simone Rodolfi: Diagnostic flow-chart (10 minutes) Irene Campi: TSH resistance to treat, yes or no? (10 minutes) Alice Casiraghi: presentation of the survey questions (10 minutes) Final discussion (10 minutes)There will be time for questions with the experts at the end. If you cannot attend please register anyway [...]
REGISTER: An update on primordial dwarfism conditions webinar
Register now for this webinar on 20 October 15:00-16:00.
Primordial dwarfism, comprises a group of rare disorders where normal human growth does not occur in utero, through childhood and adolescence resulting in severe short stature in adulthood. In recent years several associated syndromes have been described. This session will cover an update on the genetics and phenotypical aspects of primordial dwarfism and syndromic associations.
Chaired by MTG5 co-chair Susan O’Connell, Ireland
Speaker: Andrew Jackson, Programme Leader at the MRC Human Genetics Unit, University of Edinburgh, Scotland
REGISTER: Advances in the diagnosis and management of Congenital Hypogonadotropic Hypogonadism (CHH) webinar
Register now for this upcoming #raredisease webinar organised by Endo-ERN. Taking place on Monday, 22 September at 17:00-18:15 CEST.
Introduction and Opening Remarks Chairs: Prof. M. Bonomi, Prof. C. Gravholt, Dr. H. Claahsen – 5 min
Precision Medicine in CHH: Genetic Diagnosis and Emerging Biomarkers Speaker: Dr. B. Cangiano (University of Milan, Milan, Italy) – 20 min Reversal of CHH: Clinical Predictors and Management Strategies Speaker: Prof. A.A. Dwyer (Boston College & Massachusetts General Hospital, Boston, USA) – 20 min Induction of Fertility in Male Patients with CHH Speaker: Dr. C. Jayasena (Imperial College London, London, UK) [...]REGISTER: Symposium on cross-border healthcare in the DE-NL border region
Save the date and register now for this upcoming Symposium on cross-border healthcare in the DE-NL border region. Check out the agenda and register for online participation or you can attend in person in Groningen, the Netherlands.
APPLY: ERDERA Networking Support Scheme (NSS) funding call
The European Rare Diseases Research Alliance (ERDERA) has a call for the Networking Support Scheme (NSS). The deadline for this round of funding is open until early October. The aim of the NSS is to bring rare disease and the rare cancer community together across borders, disciplines and sectors.
This call will be open until April 2029 with applications being reviewed on a six-monthly basis.
To be eligible, applicants must plan a networking event with a clear rare disease or rare cancer research focus and address both aims of the call: promoting knowledge exchange and supporting greater inclusion of underrepresented [...]
NEW ePAG: Laura Maag from Surrénales
We are pleased to welcome Laura Maag as a new patient representative for the French association Surrénales. A dedicated member of the organization for over 16 years, Laura brings a wealth of experience and insight into adrenal conditions. She has actively contributed to key initiatives such as the European Emergency Card project and is deeply committed to advocating for patients’ needs. Her expertise and passion make her a valuable addition to the Endo-ERN community as we work together to improve quality of life for those living with rare endocrine conditions.
Welcome Laura!
COMPLETE: Short survey to assess treatment of (older) adults with XLH.
Cristina Eller-Vainicher and Giovanna Mantovani at member institution Fondazione Cà Granda IRCCS Ospedale Maggiore Policlinico, Milan, Italy are currently conducting an international survey to investigate current practices, access disparaties, and regulatory differences regarding Burosumab treatment in X-linked hypophosphatemia (XLH) with particular focus on:
Challenges in the transition phase from paediatric to adult care Access and treatment continuity for patients over the age of 65This initiative is especially relevant as, in Italy, adult access to Burosumab is limited: after the age of 18, treatment is reimbursed in the presence of an active fracture or pseudofracture only, and, after the age [...]
SAVE THE DATE: 8th TALENT Conference, 11-13 February, 2026
Save the date for this always valuable event. More information to follow. Subscribe to our newsletter to be kept up to date.
Transition and Adolesence Endocrine Disease Management (TALENT)
NEW ePAG: ePAG Marc Büdenbender – Endo-ERN
We are pleased to welcome new ePAG Marc Büdenbender to Endo-ERN and MTG1.
Marc joined the board of Let’s Cure ACC after surviving stage IV adrenocortical carcinoma, driven by a strong desire to support others coping with this very rare and life-threatening disease. Becoming a member of the ePAG within Endo-ERN allows him to take that commitment to the next level — by working collaboratively with other patient representatives and medical experts in the field of rare adrenal disorders to improve patient care across Europe, equally and consistently, from diagnosis through [...]
