On Thursday February 13th at 15:00 – 16:00 CET an Endo-ERN webinar about “Turner Syndrome Guideline & the patient perspective” is organised.
The webinar will be held by Prof. Claus Gravholt, MD, PhD, Aarhus University Hospital Denmark and Arlene Smyth, mother of a patient, Executive Officer of the Turner Syndrome Support Society and Endo-ERN patient representative.
Claus Gravholt will give a short description of the new international guideline concerning health and general follow-up of adult women with Turner syndrome. He will focus on the medical health issues, as well as the neurocognitive challenges that many women with TS face during adulthood and about the need for centralized care in all countries, as well as the interdisciplinarity which is needed. Furthermore, Arlene Smyth will be sharing the patient perspective side. Continuar a ler →
**This workshop is now online with a web-conferencing format. The program has been adapted.**
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.
The second ESPE Science Symposium in the Netherlands has been postponed to 29th-30th October 2021 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 2021. For more information about the symposium, have a look at the invitation below or visit the website.
The Endo-ERN November & December newsletter is out now! Read about the first Endo-ERN Guideline meeting in Leiden, scheduled webinars in 2020 and the Rare Endocrine Registries Workshop in Glasgow.
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.
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
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. Continuar a ler →