Endo-ERN webinar: Diagnosis and management of Silver–Russell Syndrome, a multidisciplinary care is necessary

This webinar took place on November 24th, 2020
Irene Netchine

On Tuesday November 24th at 17:00 – 18:00 CET an Endo-ERN webinar entitled “Diagnosis and management of Silver–Russell Syndrome, a multidisciplinary care is necessary” will be held by Prof. dr. Irène Netchine (MTG5 co-chair) from Hôpital Trousseau, Sorbonne université, Paris, France

Silver–Russell Syndrome (SRS) is a rare condition associated with prenatal and postnatal growth retardation. Children with SRS can be distinguished from those with « idiopathic » intrauterine growth retardation or born small for gestational age (SGA) and postnatal growth failure by the presence of other characteristic features, including relative macrocephaly at birth, prominent forehead, body asymmetry and feeding [...]

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The 8th I-DSD/CAH Symposium 2021

This symposium took place from July 8th to July 10th, 2020

The 8th International Symposium on DSD will take place from 8 – 10 July 2021 at the University Hospital Bern.

The registration and abstract site will open on 21st January 2021.

 

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Publication: ENDOCRINOLOGY IN THE TIME OF COVID-19: Clinical management of neuroendocrine neoplasms (NENs)

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We are proud to announce that the manuscript entitled
ENDOCRINOLOGY IN THE TIME OF COVID-19: Clinical management of neuroendocrine neoplasms (NENs), which involves various Endo-ERN members, has been accepted for publication in the European Journal of Endocrinology.

To view the publication, click here

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The ERN animation clip for the patients and health professionals subtitled and dubbed in all EU languages is now available

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The video explains to patients affected by rare, low prevalence and complex diseases what the European Reference Networks (ERN) are and how they might support them to identify diagnosis or treatment, in the case their health professional considers the support of the ERNs is necessary.

Click here to view the video with subtitles in all EU languages and Norwegian.

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Research Training Workshop Call has been extended until the 12th October 2020

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Research Training Workshop Call has been extended until the 12th October 2020.

The goal of the workshops is to train researchers and clinicians affiliated to ERNs on innovative themes related to rare diseases research. Training themes must have a cross-ERN added value and may include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc.

Topics can be proposed by clinicians/investigators affiliated to an EJP RD beneficiary institution, an ERN- Full Member or an ERN-Affiliated Partner institution

For further details please click

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Endo-ERN webinar: Wolfram syndrome

This webinar took place on October 7th, 2020

On Wednesday October 7th at 15:00 – 16:00 CET an Endo-ERN webinar about “Wolfram syndrome” is organised. The Endo-ERN webinar will be held by Prof Timothy Barrett from University Hospitals Birmingham in the United Kingdom.

Wolfram syndrome is a rare monogenic form of diabetes and neurodegeneration, with a prevalence of about 1 in every 150 children with diabetes. Classically it presents with childhood onset diabetes, optic atrophy, diabetes insipidus and diabetes mellitus. In recent years, a much wider spectrum of disease has been recognised with neonatal onset, adult onset, and partial forms. This webinar uses case examples to discuss [...]

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Endo-ERN webinar: Prader-willi syndrome

This webinar took place on September 29th, 2020

On Tuesday September 29th at 17:00 – 18:00 CET an Endo-ERN webinar about “How multidisciplinary care and growth hormone treatment can improve the health of children with Prader-Willi syndrome” will be held by Prof. dr. & ESPE president Anita Hokken from Erasmus MC: University Medical Center Rotterdam in the Netherlands.

Prader-Willi syndrome (PWS) is a rare disorder characterized by hypotonia, hyperphagia, obesity, mild to moderate developmental delay, behavioral problems, hypogonadism and short stature. Its incidence is estimated between 1:15,000-1:30,000 live births. PWS is caused by the absence of paternally expressed genes on chromosome 15q11-q13, due mainly to a paternal [...]

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Second call for ERN Research Mobility Fellowship to come up soon!

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As part of its educational activities, EJP RD runs a Research Mobility Fellowship Programme dedicated to young researchers in the European Reference Networks (ERNs). PhD students and medical doctors in training from ERN member and Affiliated Partner institutions can apply for funding of short-term (1 to 3 months) training visits at another ERN center outside their country of residence. The aim of the programme is to foster the acquisition of skills and knowledge relevant to rare disease research. Both clinical and translational research projects are eligible for funding.

The first round of applications has been concluded successfully in July 2020. [...]

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