International EJP-RD Course

The International Course Training on strategies to foster solutions of undiagnosed rare disease cases is part of a series of training activities proposed by the EJP RD and will take place on 27-29 April 2020 in Rome, Italy.

Several initiatives have been undertaken at national and international level for undiagnosed rare diseases aimed at identifying clinical pathways and innovative methods to reach diagnosis. This course will illustrate methodologies and tools already used internationally and will provide participants with useful examples for the resolution of undiagnosed cases.

The course will provide participants, through the presentation of sample use cases that have long eluded diagnosis, with useful tools, instruments and knowledge on novel strategies to foster solutions of undiagnosed RD cases. Moreover, the course will facilitate networking among professionals involved in undiagnosed rare conditions.

Registration for this course is open until January 26, 2020. For more information about this course, have a look at the program or visit the website.

Event summary

EventInternational EJP-RD Course
DateApril 27th - April 29th, 2020
WebsiteVisit event website

ESPE Science Symposium

The second ESPE Science Symposium will take place on October 30th, 2020 and will be hosted at Radboud University Medical Center, Nijmegen in The Netherlands by Prof. Hedi Claahsen.

The ESPE science symposium aims to promote the development of an interactive network between clinicians and researchers, helping to reduce the gap between research and patient care. It will also provide the means to disseminate new scientific knowledge in the community of paediatric endocrinology.

Its focus will be ‘Congenital adrenal hyperplasia: from molecular medical research to clinical application’ and it will be supported by Endo-ERN and the ESPE DSD Working Group. The duration of the meeting will be 1.5 days.

Prof. Olaf Hiort, Prof. Nicole Reisch, Prof. Faisal Ahmed, Prof. Michel Polak and ePAG representative Johan Beun are part of the organizing committee. In addition, Endo-ERN is represented by several Endo-ERN speakers during the sessions.

The congress fee is €80 per attendee, including dinner on the first night. Application is open until June 1st 2020. For more information about the symposium, have a look at the invitation below or visit the website.

Invitation ESPE Science Symposium 2020

Event summary

EventESPE Science Symposium
DateOctober 20th, 2020
LocationNijmegen, Netherlands
WebsiteVisit event website

Lecture by Prof. Thomas Danne in January 2020

We are very pleased to invite you for the lecture of Professor Thomas Danne on Wednesday, 15 January 2020 at the LUMC, The Netherlands.

The theme of lecture is Time in range, its use and implication in the treatment of (children with) type 1 diabetes. 

The duration will be 1 hour and accreditation has been requested for 1 point. The lecture is open and free for everyone who is interested in this subject.

Click here for the invitation.

This entry was posted in General.

Endo-ERN webinar : Prophylactic thyroidectomy in Children with MEN2

On Friday February 14th at 15:00 – 16:00 CET an Endo-ERN webinar about “Prophylactic thyroidectomy in Children with MEN2” is organised.

Multiple Endocrine Neoplasia type 2 is an autosomal dominant inherited tumour syndrome which occurs in 1:200000 live birth and have an estimated prevalence of 1:30 000 to 1:40 000 individuals.

It is caused by mutation of RET protooncogene located on 10q11.2 which encodes a transmembrane receptor tyrosine kinase. RET mutations are also responsible for Hirschprung disease, urogenital abnormalities and other pathologies.All  MEN2 patients develop medullary thyroid cancer, half of them pheochromocytoma and 10-20% Primary Hyperparathyroidism. RET mutations have been classified according to their aggressiveness and age at which MTC develop.

Prophylactic thyroidectomy in children diagnosed with MEN2 is a recommended treatment and in this webinar Prof. Tom Kurzawinski will talk about timing of surgery as well as its outcomes.

EJP RD Internal Call for Proposals 2019 & Joint Transnational Call 2020 (JTC2020)

Two Preliminary Announcements from EJPRD:

The Clinical Trials Methodology Demonstration Projects Call is now open. It aims to show the usability and capability of the innovative statistical methodologies for clinical trials in rare diseases, which have not been demonstrated on existing data for specific rare disease clinical trials yet. For more information about this call, visit the website.

Call for Proposals 2020 of the EJP RD JTC2020 is online! Topic is: Pre-clinical research to develop effective therapies for rare diseases. There will be a two-stage submission procedure for joint applications: pre-proposals and full proposals. The call is scheduled to open on December 13, 2019.

This entry was posted in General.

Rare Diseases Symposium: Cross-border research in rare diseases

European cooperation is of great importance in tackling rare diseases. Conducting joint research offers opportunities for care improvement for patients with a rare disease. Cross-border research was the central topic of the annual Rare Diseases Symposium on November 6th in the LUMC

During the symposium, both internal and external attendees were given an update on international developments within the field of rare diseases. Prof. Alberto Pereira gave an introduction on research within the European Reference Networks (ERNs) and the European Joint Programme on Rare Diseases (EJP RD). The EJP RD actions are organized within major pillars: collaborative research funding, coordinated access to data & services, capacity building & empowerment, and accelerating translation of research & therapy development.

Specific aspects of EJP RD were discussed in more detail: disease registries (prof. Faisal Ahmed), financing opportunities (dr. Sonja van Weely, ZonMw), and the EJP RD virtual platform (dr. Marco Roos). That successful international collaboration can significantly improve healthcare was nicely illustrated by prof. Maarten Vermeer. He shared his experiences with European and worldwide research within the field of Cutaneous Lymphoma.

Johan de Graaf also shared his experiences with cross-border research, from a patient-representative point of view. For each ERN disease grouping, there is a European Patient Advocacy Group (ePAG). Johan is ePAG for Endo-ERN and involved in several international rare disease initiatives. The symposium was concluded with an overview of EU research grant opportunities (dr. Pieter de Koning).

This entry was posted in General.

Rare Diseases Symposium

Cross-border research: opportunities and experiences

European cooperation is of great importance in tackling rare diseases. Conducting joint research offers opportunities for care improvement for patients with a rare disease. Are you curious about the opportunities for European research into rare diseases? Then come and visit the Rare Diseases Symposium on Wednesday November 6th at the LUMC main building in lecture hall 5. Endo-ERN Coordinator Alberto Pereira will be one of the speakers, together with Faisal Ahmed and ePAG representative Johan de Graaf.

Registration is not required, joining the symposium is free of charge.


14.00 Opening Prof. Willy Spaan
14.10 ERN Research and EJP-RD Prof. Alberto Pereira
14.30 Disease Registries – Strength In Numbers Prof. Faisal Ahmed
14.50 International studies in cutaneous T-cell lymphoma Prof. Maarten Vermeer

15.10 Break

15.30 Financing opportunities in EJP-RD Sonja van Weely, PhD (ZonMw)
15.50 Virtual data platform Marco Roos, PhD
16.10 Patient representation in a European context Johan de Graaf, patient representative Endo-ERN
16.30 EU Research grants Pieter de Koning, PhD

Symposium summary

SymposiumRare Diseases Symposium
DateNovember 6th, 2019
LocationLeiden, LUMC