EpiCARE News and Events

Solve-RD is a Horizon2020-funded project, dedicated to ‘solve the unsolved rare diseases’.

European Reference Networks (ERNs) are the European clinical expertise centers for rare diseases form the clinical core of Solve-RD by contributing their unsolved RD cohorts, diagnostic research expertise and infrastructure. Each ERN established their own Data Interpretation Task Force (DITF) within Solve-RD comprising expert clinicians and geneticists from the respective disease group.

ERN-EpiCARE has recently joined the project as an associated ERN and collaborates with regard to the re-analysis of unsolved exomes and genomes of patients with rare developmental and epileptic encephalopathy (DEE) or other rare epilepsy syndromes.

The Solve-RD approach to collect and jointly re-analyse large numbers of unsolved WES/WGS from RD patients already proved to be successful, increased the diagnostic yield and led to the discovery of new disease genes.

Link to Solve-RD website

Link to EJHG article series

SAVE THE DATES FOR IMPORTANT EpiCARE ACTIVITIES TO COME

• December 16th afternoon – 19th (midday), 2021: EpiCARE brainstorming face-to-face workshop in Rome, Italy  (a follow-up of the « In search of Lost time » virtual workshop held in 2020).
• February Thursday 17th & Friday18th, 2022: EpiCARE 2022 Annual General Assembly to be held in Lyon, France.

More information on both events will be provided in due time

It is our pleasure to share with all of you the report of a survey on Epilepsy and Pregnancy recently diffused by the International Bureau for Epilepsy

While the majority of women with epilepsy will have successful pregnancies, it is vital that women of childbearing age are fully informed on all issues relating to epilepsy and pregnancy.

Given that up to 50% of pregnancies are unplanned, it is important for women that they are aware of the risks involved. Getting the right message, to the correct audience, in the most appropriate format, is key.

Mindful of this, a working group of young women and medical professionals, created by IBE, is producing a multi-faceted toolkit to act as a guide for women of childbearing age. It will be developed to be user-friendly, culturally relevant and visually engaging. It will be available with print, web and social media in mind and with any medical information validated by the medical members of the project team.

As a first step in this major campaign, which is being piloted in Europe, a survey was carried across the continent in February with almost 900 women taking part. We are pleased to share with you the main report from the survey, which we believe is of critical importance and which highlights a number of issues of concern with regard to current knowledge and the timing in which this knowledge is obtained. The open comments provided by a number of respondents, from across the region, shows that women are still not receiving the information they need in a timely manner.

A summary report of the survey responses is also being produced and will be shared once available. We plan to have the summary available in a number of European languages, once the English version is published. The next step in the campaign is work on the toolkit itself.

You can read the full report here.

Thanks to a funding for the CEF Telecom programme, and a co-funding by the European Agency INEA, we are proud to present 5 e-learning modules developped in collaboration with the ILAE.

The goal of these modules is to help train clinicians to diagnosis of rare and complex epilepsies. Each case present a rare epilepsie, though an interactive path with quizzes and immediate feedback.

By the end of 2021, 5 more cases will be available.

You can try the modules here.

A webinar about ERNs and Norway’s role on the international arena of rare disorders

This webinar took place on June 18th 2021, 10am 2pm

In this webinar, the collaboration for rare disorders with a special focus on European Reference networks (ERN) and Norway’s role was the focus. Norway is already part of a few ERNs, but many more Norwegian health care providers are on their way into more networks. However, there are challenges ahead of us and we need to work together to solve them. One critical question is the accessibility of Clinical Patient Management System (CPMS) which currently is unavailable from Norwegian hospitals.

We are glad to announce that Alexis Arzimanoglou, coordinator of EpiCARE, and Nicola Specchio, estimed member of EpiCARE, have been elected as members of the International League Against Epilepsy Europe Committee (2021-2025 term).

They are looking forward to contributing to the development of even stronger links between the Ilae-Europe Regional Board and EpiCARE, and working alongside the other members of the board.

We also extend our congratulations to the new Chair Matthew Walker, coordinator of one of EpiCARE’s UK collaborating partners.