On Tuesday January 28th at 14:00 – 15:00 CET an Endo-ERN webinar about “Turner Syndrome Guideline the patient perspective” is organised.
| Webinar | Endo-ERN webinar : Turner Syndrome Guideline the patient perspective |
| Date | January 28th, 2020 |
| Registration | Register for this webinar |
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.
Webinar summary
Webinar Endo-ERN webinar : Prophylactic thyroidectomy in Children with MEN2 Date February 14th, 2020 Registration Register for this webinar
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.
The Endo-ERN October newsletter is out now! Read about the Endo-ERN webinar Alström Syndrome on 25 November, 5 new Affiliated Partners joined Endo-ERN, upcoming events and much more!
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).
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.
Program
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 | Rare Diseases Symposium |
| Date | November 6th, 2019 |
| Location | Leiden, LUMC |
On Monday 25 November 2019 at 15:00 – 16:00 CET an Endo-ERN webinar about “Alström Syndrome” is organised. The webinar will be held by Pietro Maffei MD,PhD, Padua University Hospital, Italy and Marina Valenti, mother of a patient and member of Associazione Italiana Sindrome di Älstrom . Pietro will be talking about: Endocrine and Metabolic issues in Alström Syndrome. Furthermore, Marina will be sharing the family view: Coping with Social, Educational and Medical obstacles AS presents.
| Webinar | Endo-ERN webinar: Alström Syndrome |
| Date | November 25th - November 25th, 2019 |
| Registration | Register for this webinar |
Read the September edition of the Endo-ERN newsletter now! The Launch of the call for members to join existing 24 ERNs has opened, Endo-ERN was present at ESPE2019 and much more.
Click here for the newsletter.
We proudly announce that our Endo-ERN website is now available in Polish. This way, we hope to reach more patients, caretakers, medical specialists etc. closely involved in the field of rare endocrine conditions, all over Europe, all over the world.
On the 24th of October, a CPMS Webinar will be held at 14:00 CET
The topic of the Webinar is CPMS upcoming changes.
| Event | CPMS Webinar: CPMS upcoming changes |
| Date | October 24th, 2019 |
| Registration | Register for this event |