Newsletter - January 2019 ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌ ‌
Newsletter - January 2019

Official report from 4th European Reference Network Conference now available

  Official report from 4th European Reference Network Conference now available

Health professionals, researchers, patient organisations and policymakers gathered in Brussels on 21 & 22 November for the 4th European Reference Networks Conference. The well-attended and lively event featured two full days of presentations and debate, driven by plenary sessions and eight parallel workshops.

EURO-NMD Coordinator Teresinha Evangelista gave an update as to our network's progress so far. The event also highlighted overall progress across all 24 ERNs to date in establishing the networks. The full report is now available to download.


EURORDIS recommendations for the integration of European Reference Networks into national health system


On the occasion of the 4th Conference on European Reference Networks (ERN) held on 21 and 22 November 2018, EURORDIS launched recommendations on how to better integrate ERNs into health systems which was one of the key points highlighted at the conference. At present, not all European Union (EU) Member States are represented in the various ERNs. This hinders ERN access to patients and the flow of information generated within the ERNs that could benefit all EU Member States. Integrating ERNs into national health systems is necessary to overcome this accessibility problem and to facilitate the acquisition of knowledge and skills in all national health systems.

EURORDIS has published a list of 10 recommendations to link ERNs.

ERN Graphic

ERNs feature in new European Commission campaign

European Reference Networks are beginning to have a real impact on the everyday lives of people across Europe who are living with rare diseases.

Forming part of the awareness raising campaign #EUProtects the European Reference Network for rare and complex epilepsies EpiCARE features in a short video. The video tells the story of a young Finnish boy who was suffering from 20-30 seizures a day.

Through EpiCARE, specialists from Finland, Italy, UK, France, Spain, Romania, Sweden and the Netherlands came together to decide on the right course of treatment for the child. Following the surgery, the boy is on the path to recovery, and the family can begin to return to their day-to-day lives.


Rare Disease Day 2019


With just a few weeks to go there is still time to think about what you can do to raise awareness of rare diseases across the world.

Rare Disease Day is a world-wide event and will take place on 28th February.

This year's theme is 'Bridging health and social care'.

For most people living with a rare disease, as well as their family members or carers, the reality of daily life can include any combination of the following: collecting and taking medicines, attending appointments, participating in physical therapy, using specialist equipment and accessing various social and community support services and respite care. Managing these care-related tasks alongside their usual daily activities such as work, school and leisure time can be challenging.


1st Joint Call for European Joint Programme on Rare Diseases

E-Rare Logo  

JTC 2019

The call is now open for more information please visit the website where you can find all details and relevant documents.

The ERA-Net E-Rare has successfully implemented ten Joint Transnational Calls for rare disease research projects since 2006. This effort is now continued in the frame of the European Joint Programme on Rare Diseases (EJP RD) that has been established to further help in coordinating the research efforts of European, Associated and non-European countries in the field of rare diseases and implement the objectives of the International Rare Disease Research Consortium (IRDiRC).

The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear benefit for patients.

Topic: Research projects to accelerate diagnosis and/or explore disease progression and mechanisms of rare diseases.

Joint research proposals may be submitted by applicants belonging to one of the following categories (according to country/regional regulations):

  • academia (research teams working in universities, other higher education institutions or research institutes)
  • clinical/public health sector (research teams working in hospitals/public health and/or other health care settings and health organisations)
  • enterprise (all sizes of private companies). Participation of small and medium-size enterprises (SMEs) is encouraged when allowed by national/regional regulations
  • patient advocacy organisations (PAOs - see more information below and refer to the INSERM contact point)

Closing date for pre-proposals is anticipated to be 15th February 2019.

With the deadline for full proposals expected on 11th June 2019.


Imaging in Neuromuscular Disease Conference 2019


This interdisciplinary conference will be held in Berlin from Sunday 17th to Tuesday 19th of November 2019.

The conference program will feature internationally-recognized keynote speakers highlighting developments and advances in all aspects of muscle imaging. At least 200 participants from the neuromuscular field are expected to attend.

The Imaging in Neuromuscular Disease Conference will be organized by MYO-MRI, a consortium previously supported by COST, the European Cooperation in Science and Technology. MYO-MRI focusses on applications of MR imaging and spectroscopy techniques in neuromuscular disease and has enabled collaboration on MRI as an outcome measure and on pattern recognition for diagnostics and therapy development. The project has addressed the challenges of applying MR techniques in both clinical trials and everyday clinical settings.

The programme will feature plenary talks on the following topics;

  • New Imaging Applications for NMD
  • Diffusion Techniques
  • Deep Learning
  • MR Outcome Measures
  • Imaging Cardiac Muscle

with plenary sessions and invited abstracts on each. You are cordially invited to be part of this international conference and we would like to ask for financial sponsorship to support this important event. The conference provides the opportunity to forge new partnerships, learn from the leading and brightest minds in the field and share best practices with leading experts.


5th Congress of the European Academy of Neurology

ean congress logo  

It is the European Academy of Neurology's great pleasure to welcome you to Oslo on the occasion of the 5th EAN Congress from 29 June to 2 July 2019.

The overarching theme for the congress is “Neuroinflammation – Science, Synergies, Solutions”.  The role of neuroinflammatory processes is currently a hot topic in both understanding neurological diseases and in developing new therapies for nervous system diseases. Differing aspects of neuroinflammation will be highlighted during the congress across a broad spectrum of events. Sessions will include teaching courses, focused workshops, high-quality symposia, named lectures and presentations highlighting the most recent scientific progress. This should allow participants an unrivalled opportunity to tailor their learning to ensure they have exposure to high quality learning experiences that are relevant to them and their practice.


Mitochondrial medicine 30 years on: state of the art

Mitochondrial diseases are an important group of inherited metabolic disorders affecting children and adults, with an extremely wide range of clinical symptoms and an ever increasing number of genetic causes.

This three day training course which begins on 11th April in Nice, France. The €450 course fees cover all course materials, food and accommodation for two nights.

Registration deadline is 1st March 2019.

Please note: This teaching course has been endorsed by EURO-NMD


Publication highlight - Disease duration and disability in dysferlinopathy can be described by muscle imaging using heatmaps and random forests

The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood.

Fibroadipose infiltration of 61 muscles was scored based on whole‐body MRI of 33 patients with dysferlinopathy and represented in a heatmap. We trained random forests to predict disease duration, motor function measure dimension 1 (MFM‐D1) and modified Rankin scale (mRS) based on muscle scoring and selected the most important muscle for predictions.

Heatmap delineates positive and negative fingerprints in dysferlinopathy. Disease duration is related to infiltration of infraspinatus, teres major‐minor and supraspinatus muscles. MFM‐D1 decreases with higher infiltration of teres major‐minor, triceps and sartorius. mRS is related to infiltration of vastus medialis, gracilis, infraspinatus and sartorius.

Dysferlinopathy shows a recognizable muscle MRI pattern. Fibroadipose infiltration in specific muscles of the thigh and the upper limb appears to be an important marker for disease progression.