Newsletter - October 2018 ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌
Newsletter - October 2018

Registration still open for our second annual meeting

We are delighted with the numbers of people who have already registered to find out what our network has achieved in the past 12 months and our ambitions for its future.

If you would still like to attend this exciting meeting in Prague you will need to register as soon as possible. We will close registration on 16th November to allow us time to focus on logistics.

Find out more about our meeting, read the current draft agenda or indeed register


Register for free to attend VISION-DMD workshop


Preceding the EURO-NMD annual meeting will be a VISION-DMD scientific workshop on Advances in Biomarkers and Imaging in clinical trial design for DMD and other Neuromuscular Diseases, which will take place on the 29th November 9am to 11.25am and is free to attend.


RD Action: “State of the art” Report 2018 now available

RD-Action Logo  

The ‘State of the Art of Rare Disease activities in Europe’ is a well-established Resource providing valuable, detailed information for all stakeholders in the field of rare diseases (RD) and orphan medicinal products. Since 2012, the reports have been funded through two successive European ‘Joint Actions’ for Rare Diseases. The second of these, RD-ACTION, has just published the 2018 Overview Report, which provides a high-level summary of rare disease activities in Europe against the backdrop of various policy frameworks and developments. This Overview Report is one of three key components of the ‘State of the Art’ Resource, alongside the country-specific data collection activities and the (forthcoming) topic summaries.

The latest Overview Report aims to highlight key policy frameworks, legislation/’soft’ law, Recommendations and projects of particular relevance to the European rare disease field from the vantage point of mid-2018.  It was compiled using data from various sources, including extractions from the Orphanet database and information provided directly by national representatives.

The Overview report begins with a ‘Political framework’ section, which addresses (amongst others) the following topics: Political framework at European Level; Key policy documents; Work programmes at European level; Political framework at Member State level; Political framework in other world regions (this section is essentially a summary of global RD policy frameworks and national achievements outside of Europe, created by synthesising news and updates featured in OrphaNews). Next, there is a section dedicated to ‘Expert Services in Europe’, encompassing chapters on Centres of Expertise in Member States; Expert Clinical laboratories; and European Reference Networks (the new ERN section summarises the ERN ‘status quo’ in early 2018 whilst highlighting Joint Action support across the last six years). This latest version of the Overview Report includes an extended section summarising key (disease-agnostic) initiatives of relevance to RD research and RD registries; for instance, readers can find the latest plans for the European Platform for RD Registration, and gain insights to the goals and structure of the recently-approved European Joint Programme Co-Fund for RD.  Finally, the Report summarises the status quo regarding orphan medicinal products in Europe, and highlights the key achievements of Orphanet, EURORDIS and other patient organisations/patient-initiated ventures for rare diseases in Europe.


RD-Connect webinars now available online

RD-Connect webinars now available online  

We are delighted to announce that the series of RD-Connect webinars are now available online.

As part of a close working relationship between EURO-NMD and RD-Connect three informative webinars were organised for those researchers involved in ERNs.

These webinars which were held in September 2018 were very well received and to ensure they achieve their maximum potential they were recorded for future use.

These recording have since been adapted to produce a series of three videos.

Steven Laurie, Centro Nacional de Análisis Genómico, Barcelona, Spain

This video will demonstrate how to use the powerful and user-friendly analysis tools in the GPAP to interpret, filter and prioritise your variants to identify disease-causing mutations and help diagnose your rare disease patients. The system also allows you to compare your data with data submitted by other members of the RD-Connect community, and further afield, to find confirmatory cases for your candidate variants.

Mary Wang, Fondazione Telethon, Milan, Italy

This video demonstrates how to use two tools that will help you quickly identify patient registries in Europe and beyond that hold data on your disease of interest. They also let you find rare disease biobanks and browse their sample collections, with detailed information about each individual sample.

Marco Roos, Leiden University Medical Center, The Netherlands

This video will explain what makes data Findable, Accessible, Interoperable and Reusable (FAIR) and why it is critical that different types of information, such as medical records, clinical and phenotypic data, test results, sequencing data and biosample details are made FAIR at the source.


Publication highlight

The following publication highlighted below refers to our network. Any publication that specifically mentions EURO-NMD will be flagged up to us and  will be included on our publications page.

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage.

The worldwide landscape of patient registries in the neuromuscular disease (NMD) field has significantly changed in the last 10 years, with the international TREAT-NMD network acting as strong driver. At the same time, the European Medicines Agency and the large federations of rare disease patient organizations (POs), such as EURORDIS, contributed to a great cultural change, by promoting a paradigm shift from product-registries to patient-centred registries. In Italy, several NMD POs and Fondazione Telethon undertook the development of a TREAT-NMD linked patient registry in 2009, with the referring clinical network providing input and support to this initiative through the years. This article describes the outcome of this joint effort and shares the experience gained.