IRDiRC Announces The Creation of Regulatory Science Committee to Tackle Regulatory Challenges in Rare Disease Research

IRDiRC, a global collaborative initiative with the vision to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention, today announced the formation of the Regulatory Science Committee (RSC). The new RSC “brings broad expertise across different stakeholders and geographies allowing for a balanced synergy that will provide insights and guidance into the advancement of IRDiRCs mission” said David A. Pearce, Chair of IRDiRC.

Read the full press release here: https://irdirc.org/irdirc-announces-creation-of-regulatory-science-committee/

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ERN Research Training Workshops funding opportunity

The ERN Research Training Workshops funding opportunity is now open for applications until October 1st. The goal of the workshops is to train researchers and clinicians affiliated to ERN- Full  Members or – Affiliated Partners in relevant topics on research in rare diseases. Training themes may include innovative research methodologies, diagnostic research topics, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Moreover, the workshops will be aiming to provide a cross-ERN added value.

The workshops will be delivered as two-day events. The costs for the workshop organization will be covered up to a limit of €25,000 (venue, administrative, [...]

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Last round for the Research Mobility Fellowships funding opportunity

The European Joint Programme on Rare Diseases (EJP RD) is glad to announce that the last round for the Research Mobility Fellowships funding opportunity will open on October, 3rd, 2022. The call 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 (1) within the same ERN (Full Members and Affiliated Partners), (2) between different ERNs (Full Members and Affiliated Partners), or (3) between ERN Full Members / Affiliated Partners and non-ERN institutions.

Either home or host (secondment) institution must [...]

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Mini-survey of the Dutch Pituitary Foundation

The Dutch Pituitary Foundation, the Wilhelmina Children’s Hospital and the Princess Máxima Center in Utrecht in collaboration with European Reference Network for Rare Endocrine Conditions (Endo-ERN) are collecting the opinions and experiences of patients (and/or carers) living with the consequences of hypothalamic dysfunction, or problems in the pituitary/hypothalamus area after treatment for a tumour in the hypothalamic/pituitary region.

We would like to know what patients consider important about their condition and which topics they believe should be given priority in healthcare, in research, and on how to function in everyday life.

We are looking for patients who have been diagnosed [...]

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ePAG Exchange of Good Practices – VASCERN Flowchart webinar

On Tuesday September 27th at 16:00 – 17:30 CEST an webinar about ePAG exhange of Good practices Webinar – VASCERN flowchart will be given Pernille Henriksen and Manuela Lourenço Marques, VASCERN ePAG advocates.

In this webinar Pernille Henriksen and Manuela Lourenço Marque are going to share their experience and expertise creating a simple and useful patient-oriented resource that outlines cellulitis signs and symptoms, treatment, and prevention measures. Pernille and Manuela will walk us through the methodology they developed to create this flowchart alongside VASCERN HCPs. They will share tips and helpful information that will allow you to adopt and [...]

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20th Congress of the European NeuroEndocrine Association (ENEA)

The 20th Congress of the European NeuroEndocrine Association (ENEA) will be held from 7 to 10 September 2022 in Lyon, France.

The Program Organizing Committee has prepared a balanced program covering all the aspects of neuroendocrinology. From basic research to translational studies and clinical practice, you will find a choice of relevant and cutting-edge topics. You can also have the opportunity to present your recent work, and more importantly, the opportunity to discuss and exchange ideas with other members of our neuroendocrinology community.

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Steering Committee & Advisory Board Meeting at ESPE 2022

The next Endo-ERN Steering Committee & Advisory Board meeting is going to held on Friday 16th of September, 2022 from 13:15 – 14:45 hrs at the ESPE congress venue in Rome, Italy.

A guided tour (18:00-20:00 hrs) and dinner (20:00 – 22:30 hrs) for all SC-AB members will be on Thursday September 15th, 2022

More information will be sent nearer the date.

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Endo-ERN webinar: For a prolonged use of antithyroid drug in children with Graves’disease

On Thursday September 29th at 17:00 – 18:00 CET an Endo-ERN webinar about “For a prolonged use of antithyroid drug in children with Graves’disease” will be given by Juliane Leger from Hôpital Universitaire Robert Debré, France and Edward Visser from Erasmus MC: University Medical Center Rotterdam, the Netherlands.

Graves’ disease is much rarer in children than in adults. It may occur at any age during childhood but its frequency increases with age, peaking in adolescence. There is no specific cure for the disease. Antithyroid drugs (ATD) are the first-line treatment but they are used for various lengths of time. Alternative [...]

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Endo-ERN webinar: The challenging diagnosis of TSH-omas and RTHbeta – a case-based discussion

On Monday July 4th at 16:00 – 17:00 CET an Endo-ERN webinar about “The challenging diagnosis of TSH-omas and RTHbeta: a case-based discussion” will be given by Luca Persani and Irene Campi from Istituto Auxologico Italiano – Istituto di Ricovero e Cura a Carattere Scientifico, Italy.

TSH secreting pituitary adenomas are rare tumors causing central hyperthyroidism. This a rare entity, encompasses TSH-secreting adenomas (TSHoma) and Resistance to Thyroid Hormone (RTHβ) due to THRB mutations. The differential diagnosis between these two conditions remains a clinical challenge in some cases and indeed diagnostic delay and inappropriate treatments still occur, leading to a [...]

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