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! Продължаване на четенето на
On Wednesday May 12th at 14:00 – 15:00 CET an Endo-ERN webinar about “Central congenital hypothyroidism; clinical characteristics and cognitive outcome in early detected patients” will be given by Nitash Zwaveling-Soonawala, Paul van Trotsenburg and Jolanda Naafs from Amsterdam-UMC, the Netherlands.
Central congenital hypothyroidism (CH) may occur in isolation, but in the majority of cases it is part of combined pituitary hormone deficiencies. The Netherlands has a longstanding neonatal screening program for central CH. Recently we studied the yield of 20 years of screening for central CH. In this webinar we will discuss the clinical and genetic characteristics of this large cohort of early detected central CH patients. In addition we will present the results of cognitive testing and health-related quality of life of these patients compared with healthy siblings.
Резюме на Webinar
|Webinar||Central congenital hypothyroidism; clinical characteristics and cognitive outcome in early detected patients|
|Дата||май 12th, 2021|
|Time||14:00 – 15:00 hr|
|Speakers||Nitash Zwaveling-SoonawalaPaul van Trotsenburg|
Read more about the Endo-ERN General Assembly, upcoming webinars, Special supplemental issue on Rare Endocrine Conditions and much more.
On Monday April 19th at 17:00 – 18:00 CET an Endo-ERN webinar about “Development and integration of VBHC in pituitary care in an Endo-ERN reference center” is organised. The webinar will be held by Nienke Biermasz and Friso de Vries from Leiden University Medical Center, the Netherlands.
From 2016 onwards our team embraced a VBHC approach in pituitary care. In our multidisciplinary unit we enforced multidisciplinary working by combination clinics, shared specialist nurses covering perioperative care, a shared weekly clinical meeting, PDCA cycles and combined research projects and a multidisciplinary care path. Also Capital, a multidisciplinary workshop for pituitary specialists and nurses was introduced and three successful meetings with teams and a lot of sharing experiences were organized before the Covid-19 era.
Several projects were conducted: short track admissions for surgery combined with ehealth, introduction of functional imaging, a trial to compare surgery and medical treatment in prolactinoma, and advanced outcome measurements including patient reported and clinical outcome measurements. In this webinar we discuss the process of development of this unit which is of course work in progress. We are proud to be nominated for the value based health care prize 2021, as an example of VBHC in a rare and complex disease area.
Резюме на Webinar
|Webinar||Development and integration of VBHC in pituitary care in an Endo-ERN reference center|
|Дата||април 19th, 2021|
|Time||17:00 – 18:00 hr|
Friso de Vries
On Wednesday May 26th at 16:00 – 17:00 CET
an Endo-ERN webinar about “Rare diabetes caused by endoplasmic reticulum stress: clinical features and novel patients’ stem cell-based models” will be given by Prof. Miriam Cnop from Cliniques universitaires de Bruxelles – Hôpital Erasme.
A dozen types of rare monogenic diabetes are caused by mutations that cause pancreatic beta cell endoplasmic reticulum stress. These forms of young-onset diabetes are often associated with microcephaly. We will review clinical features and discuss novel stem cell-based models to study these diseases. Patients’ induced pluripotent stem cell-derived beta cells provide the exciting opportunity to generate disease-in-a-dish and humanised mouse models, to study pathogenic mechanisms and test therapies.
Резюме на Webinar
|Webinar||Rare diabetes caused by endoplasmic reticulum stress – clinical features and novel patients’ stem cell-based models|
|Дата||май 26th, 2021|
|Time||16:00 – 17:00 hr|
Read more about e-REC, Registry Drop-in sessions, New Members of the team, EuRR-Bone Meetings and much more.
The 8th International Disorders/Differences of Sex Development Symposium will be held as a webinar on Thursday 8th July – Friday 9th July 2021.
There will be Meet the Expert sessions, Topic-specific sessions and Project workshops that will provide a platform for discussing projects that currently use data from the Registries.
Registration is free and open to all.
Резюме на Webinar
|Webinar||8th International Disorders/Differences of Sex Development Symposium|
|Дата||8 юли - юли 9th, 2021|
|Уебсайт||Посетете уебсайта на webinar|
2021 will be marked by the vaccination programs against SARS-CoV-2. Currently, various Member States are setting priorities in the vaccination programs for specific groups of patients, including those with rare diseases. On the other hand, there are some rare disease patients for whom vaccination can be contraindicated.
As European Reference Networks (ERNs) are formed by experts in rare diseases, we asked all ERNs to provide their opinion on the priorities and contraindications for patients with a rare disease within their network. The results are summarized in this document and were discussed during the internal ERN-Coordinator group meeting of January 27th, 2021.
First of all, we advise that the general recommendations of the EMA regarding new medicines need to be followed. Unfortunately, the recommendations below will not be complete, and only apply to the adult population. Moreover, these recommendations are based on the expert opinion as evidence is lacking for the majority of rare diseases. When evidence is available this is mentioned in the statement.It is very important that evidence is gathered regarding rare disease patients in the vaccination program, even better will be to set up clinical trials.
This expert opinion-based document with recommendations for adults only, can be no more than a start with the ultimate goal to have a complete overview of recommendations within the years to come, and therefore will need very regular updates. Up to date positions will be available on the websites of many ERNs.
Read more about, Special supplemental issue on Rare Endocrine Conditions, ERN recommendations on COVID-19 vaccination for patients with rare diseases, upcoming/recorded webinars and much more.
EJP RD pre-announced the upcoming opening of the call for Research Mobility Fellowships on the 15th of March, which aims to support PhD students, Postdocs and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence.
The exchange can be carried out within the same ERN (Full Members and Affiliated Partners), between different ERNs (Full Members and Affiliated Partners) and between ERN Full Members / Affiliated Partners and non-ERN institutions.
Either home or host (secondment) institution must be a Full Member or Affiliated Partner of an ERN at the time when the application is submitted, as well as during the proposed period of the training stay.
Successful applicants should acquire new competences and knowledge related to their research on rare diseases, with a defined research plan and demonstrable benefit to the ERN of the home and/or host institution.
The research mobility fellowships are meant to cover stays of 4 weeks to 6 months duration.
More information HERE.
On Thursday April 22nd at 16:00 – 17:00 CET an Endo-ERN webinar about “Pituitary Gigantism: FIPA, AIP and XLAG” is organised. The webinar will be held by Albert Beckers and Adrian F. Daly from Centre Hospitalier Universitaire de Liège.
Pituitary gigantism is a rare and severe disease caused by growth hormone secreting pituitary adenomas. Due to its onset in childhood and adolescence, pituitary gigantism, and its lifelong disease burden, pituitary gigantism is of relevance to both pediatric and adult endocrinologists. This webinar will present the important genetic advances that have been made in pituitary gigantism and will deal with the clinical challenges caused by specific forms such as FIPA-AIP mutations and X-linked acrogigantism (X-LAG).