In the context of EJP RD’s ERN Workshops, a face-to-face workshop on clinical epidemiological research for ERNs titled “Clinical Research: The Basics & Beyond” (consisting of presentations by experts in the field of epidemiology and a feedback session on the research projects of participants) is being organised by Prof. Olaf Dekkers and Prof. Frits Rosendaal of the Leiden University Medical Center.
The in-person event will take place over two days on 30th September and 1st October 2021 at the Hotel Golden Tulip Leiden Centre, Schipholweg 3, 2316 XB Leiden, the Netherlands.
The workshop is open [...]
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10 years CAH Research Support
IFCAH is pleased to welcome all patients, patient’s families, researchers and clinicians to share their very last findings on CAH, obtained thanks to 10 years of IFCAH support.
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A face-to-face workshop on Advances in Diagnostic and Therapeutic Methods for Lymph Flow Abnormalities (consisting of presentations by experts in the field of lymph flow and interactive sessions to train participants in performing and interpreting MR lymphangiography) is being organised by Dr Willemijn M. Klein on 9–10 September 2021, from 09.00 to 17.00 CET, in the auditorium of the Radboud University Medical Center, Nijmegen, the Netherlands. The workshop is open to medical specialists affiliated to an ERN Full Member or Affiliated Partner institution and who are involved in diagnosing or treating patients with lymph flow abnormalities. Registration closes on May [...]
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The Endo-ERN newsletter is out now!
Read more about eECE, upcoming webinars, ERICA – Kick off meeting and much more.
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On Thursday 27th May 2021 (from 10.00 – 16.45 h) & Friday 28th May 2021 (from 10.00 – 15.45 h) the kick-off meeting & 1st General Assembly of the European Rare Disease Research Coordination and Support Action (ERICA) will be held.
Funded under the EU research and innovation framework programme, the ERICA consortium, in which all 24 European Reference Networks (ERNs) take part, aims at building on the strength of the individual ERNs and create a platform that integrates all ERNs’ research and innovation capacity. Its overall aim is to create new intra- and inter-ERN rare disease competitive networks and [...]
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On Tuesday June 15th at 17:00 – 18:00 CET an Endo-ERN webinar about “Clinical trials with new drugs in PWS” will be given by prof. Maithé Tauber from CHU Toulouse, France.
Prader-Willi syndrome is a rare genetic neurodevelopmental disorder that results from the loss of gene expression of paternally inherited maternally imprinted genes of chromosome 15 at positions q11- q13. It is now admitted that the phenotype is explained by the impaired hypothalamic development and function which drives the developmental trajectory including nutritional, behavioural, endocrine and metabolic aspects. The nutritional trajectory is very specific with a paradoxical sequence that [...]
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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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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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The Endo-ERN newsletter is out now!
Read more about the Endo-ERN General Assembly, upcoming webinars, Special supplemental issue on Rare Endocrine Conditions and much more.
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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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