ECRD 2020 Online 14-15 May

In the context of the current COVID-19 pandemic, the upcoming European Conference on Rare Diseases & Orphan Products (ECRD) will take place ONLINE on 14-15 May.

The ECRD is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.

The ECRD 2020 theme “The rare disease patient journey in 2030” recognises that the next decade holds great potential for improvement and that while we cannot predict the future, we all have a role in preparing for it. See the full ECRD programme built around the six parallel themes.

Register via this link. Deadline for registration is May 1st.

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New Endo-ERN manuscript accepted for publication in European Journal of Endocrinology

We are proud to announce that the manuscript from Work Package 5 “Diagnostics & laboratory analysis” in collaboration with EU COST action, entitled “Peptide Hormone Analysis in Diagnosis and Treatment of Differences of Sex Development: Joint Position Paper of EU COST Action “DSDnet” and European Reference Network on Rare Endocrine Conditions” has been accepted for publication in European Journal of Endocrinology.

To view the publication, click here.

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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

WebinarUpdate on congenital adrenal hyperplasia
DateMarch 23rd - March 23rd, 2020
SpeakerNicole Reisch
RegistrationRegistration is closed

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.

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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.

Webinar summary

WebinarProphylactic thyroidectomy in Children with MEN2
DateFebruary 21st, 2020
SpeakerTom Kurzawinski
RegistrationRegistration is closed

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