LUMC is actively involved in the international approach to rare diseases

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How can we help patients with a rare disease in the best possible way? On Tuesday, February 18, the European strategy on rare diseases was discussed during the Rare Disease Day Policy Event with members of the European Parliament in Brussels. The Leiden University Medical Center (LUMC) was represented by. LUMC professor prof. Alberto Pereira as invited speaker, and as coordinator of the European reference network on rare endocrine conditions (Endo-ERN) sharing his experiences and vision for the future.

A person is considered having a rare disease if his or her condition affects less than 1 in 2,000 [...]

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Endo-ERN webinar: Prophylactic thyroidectomy in Children with MEN2

This webinar took place on February 21st, 2020

On Friday February 21st at 15:30 – 16:30 CET an Endo-ERN webinar about “Prophylactic thyroidectomy in Children with MEN2” is organised.

Multiple Endocrine Neoplasia type 2 is an autosomal dominant inherited tumour syndrome which occurs in 1:200000 live birth and have an estimated prevalence of 1:30 000 to 1:40 000 individuals.

It is caused by mutation of RET protooncogene located on 10q11.2 which encodes a transmembrane receptor tyrosine kinase. RET mutations are also responsible for Hirschprung disease, urogenital abnormalities and other pathologies.All MEN2 patients develop medullary thyroid cancer, half of them pheochromocytoma and 10-20% Primary Hyperparathyroidism. RET mutations have [...]

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Rare Disease Day in Dimed – Research Project

This event took place from February 28th to February 29th, 2020

29 February 2020 will be the thirteenth international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of (patient) organisations from countries and regions all over the world will hold awareness-raising activities.

In Padova, Italy, a meeting regarding research about rare diseases is organized.

The programme can be found here. MTG 3 Adult chair Pietro Maffei is part of the Scientific Committee.

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EJPRD – ERN internal training and support program calls

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EJP-RD has opened funding calls for training programs based on two main components: research mobility fellowship and research training workshops.

The aim of these programs is to fill the gap in the available education on rare diseases research by creating and implementing a comprehensive and cohesive program of education and empowerment for different target groups or stakeholders such as researches and young clinicians.

Submission for the fellowship is possible until 16th of March 2020. For the research training workshops, the deadline for submission is 2nd of March.

For more information, visit the website.

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e-ECE 2020

This event took place from September 5th to September 9th, 2020

e-ECE 2020 is a fully digital congress, with the latest innovations in endocrine research and patient care. e-ECE will be held from 5-9 September 2020. The online congress will exist out of high quality lectures, symposia, Meet the Expert sessions, New Scientific Approaches and much more.

The virtual exhibition, ECE Hub sessions and satellite symposia will enable you to stay up to date with industry. There will also be plenty of opportunities to meet online, extend your network and spark discussions.

 

 

 

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Bone Curriculum Symposium

This event took place from March 12th to March 13th, 2020
This year the Bone Curriculum Symposium will take place at Het Pand in Ghent, Belgium on 12 & 13 March 2020.

The bone curriculum serves as a lecture cycle on bone which is covered within three consecutive yearly symposia. The scope of the bone curriculum is to provide high quality continuous education for clinicians of all specialities interested in, seeing or treating patients with osteoporosis and / or bone diseases and is also a structured educational programme for trainees in rheumatology and other specialities looking at bone and calcium – phosphate metabolism disorders.

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Endo-ERN webinar: Turner Syndrome Guideline & the patient perspective

This webinar took place on February 13th, 2020

On Thursday February 13th at 15:00 – 16:00 CET an Endo-ERN webinar about “Turner Syndrome Guideline & the patient perspective” is organised.

The webinar will be held by Prof. Claus Gravholt, MD, PhD, Aarhus University Hospital Denmark and Arlene Smyth, mother of a patient, Executive Officer of the Turner Syndrome Support Society and Endo-ERN patient representative.

Claus Gravholt will give a short description of the new international guideline concerning health and general follow-up of adult women with Turner syndrome. He will focus on the medical health issues, as well as the neurocognitive challenges that many women with TS face during [...]

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International EJP-RD Course

This event took place from April 27th to April 29th, 2020

**This workshop is now online with a web-conferencing format. The program has been adapted.**

The International Course Training on strategies to foster solutions of undiagnosed rare disease cases is part of a series of training activities proposed by the EJP RD and will take place on 27-29 April 2020 in Rome, Italy.

Several initiatives have been undertaken at national and international level for undiagnosed rare diseases aimed at identifying clinical pathways and innovative methods to reach diagnosis. This course will illustrate methodologies and tools already used internationally and will provide participants with useful examples for [...]

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