Endo-ERN webinar : Update on congenital adrenal hyperplasia

On Monday March 23rd at 14:00 – 15:00 CET an Endo-ERN webinar about “Update on congenital adrenal hyperplasia” is organised.

The webinar will be held by Prof. Dr. med. Nicole Reisch, Ludwig-Maximilian-University Munich, Germany.

Webinar summary

WebinarEndo-ERN webinar : Update on congenital adrenal hyperplasia
DateMarch 23rd - March 23rd, 2020
RegistrationRegister for this webinar

EuRRECa Project Group Meeting Webinar

Following the necessary cancellation of the face-to-face meeting of the EuRRECa Project Group in Verbania, we are pleased to inform you that a Webinar is being arranged as an alternative on the same date.Monday 9 March 2020

The meeting will begin at 10:50 and finish at 13:10 (CET).

The PGB meeting which will be held after the Project Group meeting.

Endo-ERN GA2020 Webinar

Following the necessary cancellation of the face-to-face meeting of the Endo-ERN General Assembly in Verbania, we are pleased to inform that a Webinar is being arranged as a concise alternative for the F2F meeting on the first of the two settled dates: Tuesday 10 march 2020.

We are currently working on the (shortened) definitive programme, which will be announced on Tuesday 3 March.
The meeting will consist of two parts: morning session: 11:00-13.00, and afternoon session: 14.00-15.30/16.00 (CET).

The Steering Committee & Advisory board meeting will be held prior to the General Assembly (9.30-10.30 CET).

LUMC is actively involved in the international approach to rare diseases

How can we help patients with a rare disease in the best possible way? On Tuesday, February 18, the European strategy on rare diseases was discussed during the Rare Disease Day Policy Event with members of the European Parliament in Brussels. The Leiden University Medical Center (LUMC) was represented by. LUMC professor prof. Alberto Pereira as invited speaker, and as coordinator of the European reference network on rare endocrine conditions (Endo-ERN) sharing his experiences and vision for the future.


A person is considered having a rare disease if his or her condition affects less than 1 in 2,000 people, which means that about 30 million people livewith a rare condition in the European Union. It is estimated that around 6,000 rare diseases occur in Europe. Because these diseases require specialized and often complex treatment, patients often have difficulty acquiring  the correct diagnosis and appropriate treatment and care.

To provide patients access to the best care, it is important that health care providers (HCPs) from all over Europe actively exchange the required knowledge with each other. The ERN Hospital Managers network plays an important role in facilitating these European Reference Networks (ERNs). By bringing together specialists from across Europe, patients can be helped much faster and better in the future. Willy Spaan, chairman of the Board of Directors of LUMC, is the present chairman of this active network of European directors of academic medical centers and hospitals.


Rare Disease Day Policy Event

At the Rare Disease Day Policy Event stakeholders discuss what is needed in Europe to better respond to the needs of patients with a rare disease. Various leading healthcare professionals, policy makers and patients discussed the access to (orphan) medicines, holistic and patient-oriented care, research into patient-relevant outcome measures, and the effectiveness and added value of cross-border healthcare.

The LUMC strategically focuses on value-based healthcare, with the patient’s perspective playing a major role in shaping care. Several care pathways for patients with a many rare conditions have already been developed.

At LUMC, doctors and researchers are already dealing with 125 different rare diseases in 40 centers of expertise. The knowledge and experiences are discussed in Brussels. Among other things, Pereira explained the importance of joint research funding for ERNs, a coordinated access to data and services, capacity building, and the need fora rapid translation of research and therapy development.


International collaboration 

To further improve care for patients with a rare disease, health care professionals, researchers and patient representatives at LUMC have been exchanging specialist knowledge with other colleagues in the field through participation in 8 ERNs since 2017.. The LUMC is the coordinating center in Europe of the ERN on Rare Endocrine Conditions (Endo-ERN). By using novel ICT technology developed by the European Commission, the Clinical Patient Management System (CPMS), virtual consultation by a panel of Multidisciplinary experts enables patients with rare diseases from other European countries to obtain the required expertise without having to travel to the LUMC.

The LUMC is also a member of the International Rare Diseases Research Consortium (IRDiRC). This consortium is working on one clear mission: to provide all people with rare diseases with a precise diagnosis, the best care and therapy within one year after medical assistance.

This entry was posted in General.

Endo-ERN webinar : Prophylactic thyroidectomy in Children with MEN2

On Friday February 21st at 15:30 – 16:30 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.

Rare Disease Day in Dimed – Research Project

29 February 2020 will be the thirteenth international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of (patient) organisations from countries and regions all over the world will hold awareness-raising activities.

In Padova, Italy, a meeting regarding research about rare diseases is organized.

The programme can be found here. MTG 3 Adult chair Pietro Maffei is part of the Scientific Committee.

Event summary

EventRare Disease Day in Dimed – Research Project
DateFebruary 28th - February 29th, 2020
LocationPadova, Italy
WebsiteVisit event website

EJPRD – ERN internal training and support program calls

EJP-RD has opened funding calls for training programs based on two main components: research mobility fellowship and research training workshops.

The aim of these programs is to fill the gap in the available education on rare diseases research by creating and implementing a comprehensive and cohesive program of education and empowerment for different target groups or stakeholders such as researches and young clinicians.

Submission for the fellowship is possible until 16th of March 2020. For the research training workshops, the deadline for submission is 2nd of March.

For more information, visit the website.

This entry was posted in General.

ECE 2020

** ECE2020 is postponed **

They are currently working to establish a new date 

Endo-ERN at ECE 2020

Endo-ERN will be present at ECE 2020 with a symposium, lunch hub session, a shared stand with EuRRECa and will held its Steering Committee & Advisory Board meeting.

Sunday 24 May

  • Endo-ERN stand – Booth 27

Monday 25 May

  • Endo-ERN stand – Booth 27
  • Endo-ERN Symposium – 10:20 – 11:50 hrs
  • Endo-ERN Steering Committee & Advisory Board meeting – 13:00 – 15:00 hrs

Tuesday 26 May

  • Endo-ERN stand – Booth 27
  • Endo-ERN lunch hub session – 13:00 – 13:30 hrs 

More information will follow soon

Event summary

EventECE 2020
DateMay 23rd - May 26th, 2020
LocationPrague, Czech Republic
OrganisationThe European Society of Endocrinology
WebsiteVisit event website