Newsletter - April 2018
Newcastle - River Tyne - Millenium Bridge
Summer School Programme announced

2-6 July 2018 - Newcastle-upon-Tyne, UK


We are delighted with the number of applications and interest we have received for our upcoming Summer School. The programme has now been finalized, (barring minor changes) and is now available on our website.

This carefully crafted programme has been specifically developed to not only cover all aspects the translational life from bench to bedside, but to begin to get attendees to question and analyse situations from a number of different ethical standpoints. Those who attend this course will complete it with a well-rounded understanding of the translational research pathway. This will include an awareness of the pitfalls; and an appreciation of potentinal ethical issues that may arise along the way.

If you would like to find out more about the Summer School, comprehensive information is available on our website and we are still accepting registrations at this time.


European Initiatives unite to address Integrated and Holistic care needs for Rare and Complex Conditions

On the 12th and 13th of April 2018, two rare-disease focused initiatives -RD-ACTION and INNOVcare- united to deliver a large workshop, intended to share the state of the art in terms of integrated, holistic care for people with rare diseases, and to explore the possible added-value which European Reference Networks (ERNs) might bring to this important area.
(source: OrphaNews April 3, 2018)

Dates to put in your calendar

Our next EURO-NMD face-to-face board meeting wil take place on 9th July in Vienna to coincide with the ICNMD meeting. The meeting will take place from 17:30 to 19:30.
This event is Free, however, it is a closed meeting only open to members of the EURO-NMD Board, Executive Committee and Patient Advisory Representatives. Registaration is now open for members of the EURO-NMD Board, Executive Committee and Patient Advisory Representatives. We strongly encourage those eligible to attend to register here as soon as possible to ensure their place.

The 4th Conference on European Reference Networks will take place in Brussels, Belgium, 21-22 November 2018. The theme of the conference is ERNs in action, as more details became apparent we will include them on our website.

Dates and location for the second annual meeting of our ERN have been confirmed as 29-30 November 2018 at the Motol University Hospital, Prague, Czech Republic. Further details of how our board members can register and along with more comprehensive information will be available in due course.

Don't forget there are many more conferences, meetings and events already available on our website.

ECRD Vienna 2018 - programme and speakers announced!


The European Conference on Rare Diseases & Orphan Products (ECRD) will be held in Vienna the 10-12 May 2018 and the theme is ‘Rare Diseases 360° – collaborative strategies to leave no-one behind’. The theme reinforces the quality of the event for the rare disease community in Europe, and brings together and facilitates effective policy discussions between all rare disease stakeholders. It gives the opportunity to discuss current issues with experts and to develop solutions on how to improve the lives of the estimated 30 million people living with a rare disease in Europe and 300 million worldwide. 

The programme of the conference will cover different topics such as research, healthcare, social care, public health policies, and support at European and international levels.

The conference will focus on six themes, that will be discussed by participants during the event.

  • Quality of life
  • Global rare equity
  • The digital patient
  • Structuring research and diagnosis
  • Economical perspectives in rare diseases
  • Breakthrough medicines
Please look out for the EURO-NMD poster which will be presented at this conference!


RD-Connect Genome-Phenome Analysis Platform is an IRDiRC Recommended Resource


The RD-Connect Genome-Phenome Analysis Platform has received the label IRDiRC Recognized Resources! This endorsement is a great success of RD-Connect and will help to ensure the future sustainability of the RD-Connect infrastructure.

Congratulations go to the team at Centro Nacional de Análisis Genómico in Barcelona, Spain, who developed the Genome-Phenome Analysis Platform, and all partners that contributed to its success.


Rare diseases medicines: how is patient access in European countries?


A study published in Science Direct investigates rare diseases patient access to orphan and non-orphan medicines in Europe. The authors’ aim was to evaluate patient access to 125 authorised medicines between 2005 and 2014, using three measures:

  • The number of available medicines
  • Time of continuous use
  • Medicine expenditure

The study shows that patients from Germany, Scandinavian countries, Switzerland, France and the UK have a greater access to medicines in a shorter time compared to other European countries, and that France, Germany and Switzerland have a largest medicine expenditure. The study also mentioned the average time of continuous use for orphan medicines in European countries is around 1.6 years (uninterrupted use). The authors highlight obvious inequities between European countries when evaluating patient access to medicines, and the need to implement new strategies to assess this issue.

(source: OrphaNews April 3, 2018)


ENMC celebrates 25yrs

In January 2018 the European Neuromuscular Centre (ENMC) celebrated the 25th anniversary of the ENMC with a special workshop on Shared Decision Making. Which was saw 45 stakeholders from 15 different countries attend in Milan, Italy.

The lay report is published on the ENMC website and translated from English in 7 different languages

Golden Helix Summer School Announced


Rare Genomics: Genomics of Rare Diseases, Rare Cancers and Rare Drug Outcomes

The 2018 Golden Helix Summer School that will be held in the island of Syros, Greece, the capital of the Cyclades islands in the Aegean archipelago. The theme of the Summer School which runs 26-30 September is "Rare Genomics: Genomics of Rare Diseases, Rare Cancers and rare Drug Outcomes" and will revolve around the application of the most important disciplines of Genomic Medicine, such as Genome discovery, informatics, Public Health, and drug design in Rare Diseases, Cancer and Pharmacogenomics.

EURO-NMD Participants are eligible to a 10% discount on fees!

Registration and abstract submission closes 1st July 2018


Standards of care for Congenital Myopathy - update

The standards of care for Congenital Myopathy (CM) have been updated and are now available on the TREAT-NMD website here. The CM family guide has also been updated and is available here.

Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. Therefore, there is a great need to establish guidelines for diagnosis and clinical care in congenital myopathies.

The International Standard of Care Committee for Congenital Myopathies, which includes 59 members from 10 medical disciplines, was established to identify current care issues, review literature for evidence-based practice, and achieve consensus for diagnostic and clinical care recommendations in 5 areas:

  • Genetics/ diagnosis
  • NeurologyPulmonology
  • Gastroenterology/ nutrition/ speech/ oral care
  • Orthopedics/ rehabilitation.

To achieve consensus on the care recommendations a multistage approach was undertaken that included a comprehensive literature review, a 2-part online survey, and an intensive in-person workshop (3-days). From these activities, an academic article was produced summarizing the full consensus reached by the participants on best-practice care for congenital myopathies. This article was published in the Journal of Child Neurology in November 2012 and it is hoped that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.