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.
New at Endo-ERN website:
A COVID-19 page with information for patients with rare endocrine conditions & for clinicians treating COVID-19 patients with rare endocrine conditions.
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.
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.
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).
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 [...]
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 [...]
The Endo-ERN Newsletter of January is out now. Read about the upcoming organized webinar, Rare Disease Day, a new patient representative joined MTG 8 Thyroid, FAQ regarding Brexit and an overview of the upcoming events.
The newsletter can be found here.
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.
