Endo-ERN webinar: Clinical and genetic aspects of pheochromocytoma

On Monday June 14th at 15:00 – 16:00 CET an Endo-ERN webinar about “Clinical and genetic aspects of pheochromocytoma” will be given by Peter Igaz from Semmelweis University, Hungary.

Pheochromocytomas are rare, chromaffin cell-derived neuroendocrine tumors that show the highest heritability among all human tumors. Most pheochromocytomas (80 %) arise in the adrenal, but a significant proportion is located at extraadrenal sites (paraganglioma). Approximately 40 % of pheochromocytomas are associated with germ-line mutations in various susceptibility genes. Due to the hypersecretion of catecholamines, pheochromocytomas can result in severe cardiovascular complications and are associated with significant morbidity and mortality. Histological [...]

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Endo-ERN webinar: Central congenital hypothyroidism; clinical characteristics and cognitive outcome in early detected patients

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 [...]

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Endo-ERN webinar: Development and integration of VBHC in pituitary care in an Endo-ERN reference center

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 [...]

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Endo-ERN webinar: Rare diabetes caused by endoplasmic reticulum stress – clinical features and novel patients’ stem cell-based models

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 [...]

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8th International Disorders/Differences of Sex Development Symposium

The 8th International Disorders/Differences of Sex Development Symposium will be held as a webinar on Thursday 8th July – Friday 9th July 2021.

The programme is available on the I-DSD website.

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.

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Summary of the view of all ERNs on priorities and contra-indications for COVID-19 vaccinations

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, [...]

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ERN Research Mobility Fellowship

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 [...]

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This entry was posted in General.