Newsletter - February 2018

Share4Rare - the project to develop a new collective awareness platform for social innovation launches!

Based on a socially innovative approach, and building on citizen science and collective intelligence, the Share4Rare Project will engage and connect all relevant stakeholders towards improving quality of life, disease management and collection of scientific knowledge and data on rare diseases.

The project is funded by the European Union’s Horizon 2020 research and innovation programme and will be coordinated by Sant Joan de Déu Foundation.

The platform will be built around three important pillars:
Education, Sharing and Research.

Share4Rare (S4R) will take advantage of the highly-motivated group of citizens (from patients to researchers, volunteers to public health representatives and health professionals) linked directly or not to rare diseases, and their expertise. It will build on existing knowledge and initiatives, and will ensure a space for debate, co-creation, and further research through shared data and a patient centered approach.

As coordinators of the Neuromuscular ERN we are delighted that staff based at the John Walton Muscular Dystrophy Research Centre will be involved in both projects. We anticipate that we will be able to not only provide that all important 'bridge' between the two projects but also build upon our existing communication channels to ensure we reach everyone connected with the neuromuscular field and beyond!


Rare Disease Day 2018! It's almost here!

As you can see from our photograph, the staff here at the John Walton Muscular Dystrophy Research Centre are gearing up for Rare Disease Day 2018. Many of us took almost no encouragement to put on some face paint and make a noise for rare diseases!

There's still time to get involved!

Find out what you can do on 28th February!


Apply now for our 2018 Translational Summer School

Institute of Genetic Medicine, Newcastle University  

We are delighted by the number of applications we have received for our Neuromuscular Translational Summer School in July.

Early bird rate of €400 is available until 28th February!

Our comprehensive course, run in conjunction with TREAT-NMD, will serve as a superb foundation for those wanting to steer their medical or research career in the direction of neuromuscular diseases whilst contacts made as a result of attending will, no doubt, prove to be invaluable.

Attendees who complete this course will not only be furnished with knowledge of the many different aspects that are involved in translational research but will also gain a deeper understanding and compassion for those involved in the whole trial process from researcher to patient.


RD-Connect and EuroBioBank launches sample catalogue


Biological samples such as blood and DNA, provided by patients and stored in biobanks, are valuable material that can be used for future research. In the case of rare diseases, the scarcity of patients, who are scattered across the world, makes having biosamples available for reuse particularly important.

To solve this problem, RD-Connect and EuroBioBank have launched the Sample Catalogue, which allows researchers to find biological samples from rare disease patients for research purposes. The Sample Catalogue is open to all users free of charge and contains essential information and links to the biobanks where the sample is located to facilitate requesting the samples.

Biobanks within the EuroBioBank Network were the first ones to include their sample collections in the Sample Catalogue. All rare disease biobanks are welcome to submit their data to ensure the biological samples they hold are accessible for research and are adequately represented.


RD-Connect achievements 2012-2107


A report on RD-Connect achievements over the past 5 years has been published on the RD-Connect website at the beginning of 2018.

The report, which is available from the RD-Connect website, highlights project collaborations, platform development, BioBanks/registries, bioinformatic tools, ethic/social issues, patient engagement as well as the overall impact the project has had as it enters its final months of EU funding.


Next EURO-NMD Board meeting - details confirmed

Acting on the feedback we have received from our Board Members we have agreed on a time and place for our next face-to-face meeting.

This will be held on Monday 9th July 2018 at 17:30-19:30 as part of the ICNMD conference in Vienna.

This will enable many of our board members who have already arranged to go to ICND to also attend the board meeting without having to travel further.

We realise that sadly not everyone will be able to attend which although unfortunate is also somewhat inevitable give the large number of healthcare providers involved with the network and we look forward to meeting as many of you as possible in Vienna!


Get your network related output published on our website


Are you one of our 61 healthcare providers?

If so, did you know that you can now have your network related publications, posters and presentations included on our website?


To ensure that network related publications are included on our website we recommend completing the appropriate online form. They should also include the statement "on behalf of EURO-NMD". Full details can be found in our publications policy.


Posters representing the network and that have been presented by one of the network's healthcare providers can be also uploaded, visit the healthcare providers' resources page on the EURO-NMD website to find the correct form.


Presentations representing the network and that have been given by one of our healthcare providers also can be uploaded using a specifically designed online form on the website.

We will do our very best to ensure all relevant outputs are included on the website linking them to appropriate organisations and individuals where possible, but we will need input from you our healthcare providers to help us to achieve this.

We look forward to seeing our output as a network grow in the coming months helping to spread the word far and wide.


EURO-NMD Secretariat - so what have we been upto?

We are fast approaching the end of our first year as a network (yes really!).

The EURO-NMD secretariat are now submitting deliverables for the reporting period of the initial grant. It has been amazing to see how much has been achieved by EURO-NMD. Teresinha has remained our contact at the ERN coordinators meetings and we have been an active contributor in the development of the CPMS.

Becca recently attended the kick off meeting for the Share4Rare project which will work closely with us, and we are in the process of recruiting a part time member of staff to work on the project. Due to the links with EURO-NMD this person will sit within the secretariat. Teresinha is supporting the development of the different “chapters” of the collaborative platform, and our work will focus around generating the NMD specific content.

Michael continues to introduce new features to the website which, we anticipate, will meet our future needs as the network grows and develops. These include ability to easily list, filter and display care guidelines and standard operating procedures to name a couple. We can also show any network related posters, publications and presentations on the site as already highlighted in this newsletter.

Joanna is working hard to chase missing pieces of information and survey responses from all HCPs. Many thanks to those of you who have responded. In addition to this, we are all working on the translational summer school, planning for the face to face board meeting and working to complete all outstanding deliverables. We are also working on the European Joint Programme, and along with the other ERN’s we are exploring if and how we could become a beneficiary.


6th Translational Research Meeting on Peripheral Neuropathies

Channelopathies in Neurology

This meeting is coordinated by L Magy, N. Tricaud & J-M Vallat and will be held at the Institut de Myologie, Pitié- Salpétrière.

Download the PDF for further details and information on registration.