Read the February-March edition of the Endo-ERN newsletter now! It features a report on our third annual General Assembly, the first EndoRARE webinar, past meetings, and upcoming meetings!
Mark your calendar and save the date!
Monday, April 3, 2023The 1st Joint EuRRECa and EuRR-Bone meeting will take place in the morning at Leiden University Medical Centre, the day before Endo-ERN General Assembly. Click here to register and see the programme here. Faisal Ahmed’s Inaugural Lecture will take place during the afternoon at Universiteit Leiden. Past event report Oct 2022
ERICA – ERN Data Management Strategy Multistakeholder Workshop, Heidelberg
This workshop included discussions aimed at helping ERNs in setting up, maintaining and improving their registries. The valuable face-to-face interaction, not possible during the recent period, facilitated [...]
Dr. Arianne Dessens from the Child & Psychiatry Department at Erasmus MC participated in an Endo-ERN Exchange to facilitate the foundation of an international learning network for disorders/difference of sex development (DSD). Her detailed summary outlines the experience of developing a specialized learning network using the ERN Clinical Exchange opportunity.
“Disorders/differences of sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Providers of psychosocial care are facing challenges to find adaptations in line with recent development in medical knowledge and practices and changed patients’ and parental attitudes and expectations regarding clinical management. Harmonization of [...]
Dr Sara De Vincentis shares her experience in Oslo and her inspiration for further collaboration.
“I have really enjoyed my Endo-ERN exchange period at the Oslo University Hospital, Rikshospitalet.
Like my belonging Unit of Endocrinology, Azienda Ospedaliero-Universitaria of Modena, the section of Specialized Endocrinology of Oslo is a tertiary-level European centre with a special interest in pituitary and calcium metabolic disorders.
Sharing patients with such rare disorders together with local physicians, through educational and multidisciplinary sessions, has given me the opportunity to further professionalize in this field.
Therefore, this exchange could hopefully represent the first step of future collaborations from [...]
A successful exchange between Dr Marianne Becker, Centre Hospitalier de Luxembourg and Prof Semler, University Hospital in Cologne. Dr Becker provided the following report.
“I had the chance to visit Prof. Oliver Semler at the University Hospital in Cologne on the 27th and 28th of July 2022 in the setting of the ERN Clinical Exchange Program.
I accompanied Prof. Semler during his consultation for rare bone diseases (osteogenesis imperfecta, achondroplasia, XLH) and had the opportunity do discuss several cases from my consultation with him.
I participated at a team meeting with his endocrine team, I visited the pediatric rehabilitation center [...]
Patient journeys are instruments developed by EURORDIS, The Voice of Rare Disease Patients in Europe, to collect patients’ experiences; they may identify gaps and areas deserving improvement, as well as elements positively considered by affected persons. This webinar is a presentation by the authors of the recently published paper of the same title.
Objectives of Endo-ERN Work Package 4 (ways to improve quality of care and patient view) Susan M Webb, IIB-Sant Pau, Research Center for Pituitary Diseases, Barcelona, Spain
What are Patient Journeys (PJ), its methodology, added value and clinical application Matt Bolz-Johnson, Health & Network Advisor, EURODIS
The EURORDIS All ePAG Meeting will take place between November 14-17, 2022.
This will be an online event of 5 sessions over 4 days. Each session is 1 hour and there are 2 networking sessions and 3 sessions dedicated to exploring how and why to listen to and represent your community. These sessions were inspired by a practical guide co-developed by EURORDIS and the patient community.
You can join as many sessions as you like and pre-registration is not required.
Bookmark this page for the meeting links below or download the agenda which contains the meeting links.
The European Platform on Rare Disease Registration (EU RD Platform) is happy to inform you that after the launch of the pseudonymisation tool SPIDER last spring, the Platform is now offering a series of specific trainings planned for November and December (dates TBD). There are two types of online SPIDER trainings planned:
A theoretical but nevertheless interactive session that deals more with the basic principles and functions of SPIDER (online). A hands-on session for those registries that have already completed their entries in ERDRI (both ERDRI.dor and ERDRI.mdr) (online).
Staff from all registries, all ERNs working [...]
EURORDIS is hosting two FREE webinars on Clinical Practice Guidelines:Monday, November 14, 2022 at 1600 (CET)
Roadmap for Guideline Implementation
Thursday, November 24, 2022 at 1600 (CET)
Appraisal of an Existing Guideline
Additional resources on Clinical Practice Guidelines co-developed by EURORDIS include:Guide for Patient involvement in the development of clinical practice guidelines & clinical decision support tools ePAG Good Practices: Clinical Practice Guideline development recorded webinar
The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation.
As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the addressed fields with interdisciplinary case discussions.
The course is open to specialists and specialists in training in the fields of clinical and laboratory genetics, bioinformatics, obstetrics, pathology with a special interest in prenatal medicine. The program gathers excellent scientists from ITHACA affiliates and collaborating partners [...]
Wednesday 14th until Saterday 17th of September, the 60th annual ESPE meeting was held in Rome. Endo-ERN, together with EuRRECa and EuRR-Bone were represented with a booth where we answered many questions of visitors and made new contacts for our network.
The Endo-ERN Session was hosted by Prof. Olaf Hiort and Prof. Luca Persani and presentations were given by: Prof. Olaf Hiort, Prof. Laura de Graaf, Prof. Nienke Biermasz and Prof. Jérôme Bertherat. Furthermore a fruitful Steering Committee / Advisory Board meeting was organized during which ongoing activities and future plans were discussed.