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27th February 2015
MYO-MRI Training School and Short Term Scientific Missions
now open for registration

The MYO-MRI project "Applications of MR imaging and spectroscopy techniques in neuromuscular disease: collaboration on outcome measures and pattern recognition for diagnostics and therapy development", led by Volker Straub and Pierre Carlier, is funded by COST, the European Cooperation for Science and Technology. It aims to overcome the main hurdles to the rollout of MR techniques by sharing expertise and data, validating protocols across platforms and exploring the potential of MRI and MRS as helpful diagnostic tools and quantitative outcome measures in NMD clinical trials.

The training of early stage researchers is an important aspect of the MYO-MRI project and we are pleased to announce the following activities:

1st MYO-MRI Training School - now open for expressions of interest

16–18 June 2015 will see the launch of the first MYO-MRI Training School. The three day course will be held at the Institut de Myologie in Paris and will give an in-depth introduction into the four working groups that make up the project, as well as a range of topic specific modules. Days two and three will see a range of working group specific modules, taught by experts from the MYO-MRI project itself.

The Training School is now open for expressions of interest - and we encourage early stage researchers in particular to apply. If you would like to attend, you can register your interest on the MYO-MRI website.

Year 2 Short Term Scientific Missions (STSMs) - call for applications now open

MYO-MRI will again fund four STSMs. These missions are a fundamental part of MYO-MRI and give early stage researchers the opportunity to undertake research in another country for 5-90 days. A grant of up to €1500 is available to cover travel and accommodation. Reports from STSMs undertaken in Year 1 can be found  on the MYO-MRI website and you can apply to undertake a STSM here.

Further details on the MYO-MRI project website and if you have any further questions please contact Olav Veldhuizen.

Tomorrow is Rare Disease Day!
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Rare Disease Day 2015 takes place tomorrow!

The main objective of the day is to raise worldwide awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

This will be the eighth consecutive, successful year for Rare Disease Day since it was first launched by EURORDIS and its Council of National Alliances in 2008. To date, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage and we anticipate tomorrow's event to significantly add to this.

This year's slogan is 'day-by-day, hand-in-hand' and the day will focus on the daily lives of patients, families and caregivers who are living with a rare disease. To find out more about what will be happening all around the world in the next day or so please visit the Rare Disease Day website.

Publication highlights analysis of over 7000 mutations held
within DMD global database
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This recently published report in Human Mutation highlights the analysis of over 7000 DMD mutations held within the TREAT-NMD DMD global database and provides an example of how the sharing of registry data can have a global impact for disease diagnosis, scientific research, clinical trial planning and improved clinical care.

The analysis revealed 5682 large mutations (80% of total mutations), of which 4894 (86%) were deletions, and 784 (14%) were duplications. There were 1445 small mutations (20% of total mutations), of which 358 (25%) were small deletions and 132 (9%) were small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed.

In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).

Understanding the type and frequency of patient specific mutations that give rise to DMD associated phenotypes will potentially lead to personalized (targeted/precision) therapies.

DMD essentially serves as a paradigm for this type of treatment and ultimately it could lead the way to similar approaches in other rare diseases and indeed in more common disorders.

Patient Ethics Council publishes open letter about risk
of overselling results in scientific journals
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The TREAT-NMD Project Ethics Council (PEC), is the panel of clinical, research, ethical experts and patient advocacy groups working on the advancement of treatments for neuromuscular diseases.

The PEC has repeatedly been approached about hyped therapies, where scientific publications have oversold the beneficial effects of a potential therapy and/or did not mention the work still to be done to assess whether a therapy would be effective and safe in humans.

The PEC believes journal editors should be aware of this and they should also alert their reviewers to pay closer attention to this. The council has produced an open letter about this topic.

Read the letter in full in the ethics section of the TREAT-NMD website.

European Commission anticipates call for ERNs in December 2015
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European Reference Networks (ERNs) hold real potential to improve knowledge and facilitate the delivery of highly specialized healthcare for rare, complex diseases.

With the Call for ERNs envisaged this December, activities are underway to prepare the field: a Board of Member States is now in place; a new consortium -PACE-ERN- has been set-up by EURORDIS to create assessment tools and resources to help those preparing ERN proposals; and the European Commission’s Expert Group on Rare Diseases will discuss further guidance for the rare disease community shortly, to ensure that all rare conditions will ‘find a home’ under an ERN.

Continuing the discussions of the 200th ENMC workshop in 2013, the neuromuscular field should follow ERN developments throughout 2015, to enable it to continue to increase opportunities and reduce inequalities for patients across the EU.

EURORDIS Awards recognise outstanding contributions
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The EURORDIS Awards are distributed in Brussels on the occasion of the Rare Disease Day. The awards acknowledge the outstanding contributions of patients' advocacy groups, volunteers, scientists, companies, media, and policy makers toward reducing the impact of rare diseases on people's lives. Nominations for the awards were open to everyone with nominees then being voted on by the EURORDIS Awards Jury.

We would like to take this opportunity to extend our congratulations to all of this year's award recipients. A special mention goes to the patient organization Children with SMA from the Ukraine whose president Vitaliy Matyushenko was in attendance to receive the Patient Organsation Award. We would also like to send special congratulations to Professor Kate Bushby, one of the founding TREAT-NMD Coordinators. She received the Scientific Award, for her outstanding research into rare inherited neuromuscular genetics, the role she plays in the NHS Highly Specialised Services for rare neuromuscular diseases, as well as for her work on the EU Committee of Experts of Rare Disease.

To find out more about the event and all of the awards please visit the EURORDIS website.

Building Bridges in Translational Medicine
Register now for the second EATRIS conference
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EATRIS ERIC – the European Infrastructure for Translational Medicine, is a permanent academic research infrastructure that supports researchers and funders in de-risking and adding value to their high potential products in development. Using a simple ‘one-stop shop’ mechanism, industry and academia alike can access leading translational research facilities and key expertise across Europe.

The second EATRIS conference will bring together key international stakeholders in translational research. Over two days they will present and discuss the main challenges in translational research, together with the new developments that EATRIS ERIC contributes to the field.

Preliminary programme details and how to register can be found on the dedicated conference website.

Update on Neuromuscular disorders - registration open
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The MRC Centre for Neuromuscular Diseases and the Institute of Child Health are pleased to announce their annual paediatric and adult course for 2015, which is now in its eighth year and is aimed at specialists with an interest in neuromuscular disease.

This clinical course concentrates on childhood and adult neuromuscular disorders with an emphasis on clinical cases, natural history and management.

This 4 day course is designed for specialists with an interest in neuromuscular diseases; the first two days concentrating on paediatric neuromuscular disorders and the latter two days on adult neuromuscular disorders.

Registration closes 1 May 2015

Registration open for 14th Annual King's College Neuromuscular
Disease Symposium
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The 14th Annual King's College Neuromuscular Disease Symposium will take place on Friday 3 July 2015, 09:30–17:00 in central London.

This annual meeting, organized by Dr Robert Hadden, is aimed primarily at clinicians who treat patients with diseases of the peripheral nervous system and muscle, especially general adult neurologists but also clinical neurophysiologists, paediatric neurologists and clinical neuroscientists. It aims to provide a clinical update as well as an introduction to the science underlying neuromuscular disease.

The provisional programme can be found here and you can register here.

If you have any questions about the event please get in touch with Samantha Smith

Save the date for the TREAT-NMD Bi-Annual
Translational Sciences Conference
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Planning is currently underway for the TREAT-NMD Alliance Bi-Annual Translational Sciences Conference which will take place in Washington DC on 4-8 December 2015.

This conference will be a fantastic opportunity for patients, academics, clinicians, patient registry curators and industry representatives, indeed all TREAT-NMD stakeholders, to get together to network, learn and exchange ideas about translational research.

To maximize the benefit of our stakeholders getting together a number of satellite meetings and workshops are also planned.

Details of the programme, speakers, venue location and how to register will be announced in upcoming newsletters, on the TREAT-NMD website and also via twitter @TREAT_NMD.

We look forward to seeing you in December!

13th International Conference on DMD & BMD
a meeting report
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The 13th International Conference on Duchenne and Becker Muscular Dystrophy organized by Parent Project Italy took place in Rome on 21-22 February.

With more than 400 attendees, this conference provided a unique opportunity for people living with Duchenne and their families as well as patient representatives from across the world to get to get together with industry partners, scientific leaders and medical providers. There were six sessions which were entirely devoted to clinical trials and throughout the meeting updates were provided on ongoing clinical studies. There were a number of round table discussions which focused on issues such as the preparation needed for a clinic trial, the efficacy evaluation of experimental drugs in DMD and market access of new treatments.

The aim of the conference was to provide those affected by DMD with an overview of the current therapeutic strategies and to help them understand more clearly the clinical development of drugs. Experts in the field were in continuous dialogue with patients and families throughout the two days. The updates included PTC Therapeutics' journey in bringing Translarna to patients and also the positive outcome of the Italian phase 2 Givinostat clinical study sponsored by Italfarmaco.

Families affected by DMD in China reflect
on the past and plan for the future
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Last year China hosted its third conference on DMD/BMD. Arranged by China MD and China Armed Police General Hospital the conference brought together stakeholders from across China as well as from Japan and Denmark. Attendees included adult and pediatric neurologists, physiotherapists and psychiatrists and also more than 150 patients and their families. Local speakers also shared their experiences of the neuromuscular field throughout China which was followed by discussions.

Most notably the conference highlighted the importance of early diagnosis, applying standards of care, and the benefits of working collaboratively. The patient community in China is now looking forward to the Chinese Year of the Sheep in which they are already planning to participate the DMD awareness day later this year.

Find out more China MD care and support association and this conference.

Clinical research associates opportunities available
University College London
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An exciting opportunity for three Clinical Research Associates has arisen at the MRC Centre for Neuromuscular Diseases, UCL Institutes of Neurology and Child Health. The postholders will have the opportunity to undertake experimental and/or clinical research in neuromuscular disease. A selection of projects in paediatrics and adult neuromuscular diseases are available. The MRC Centre offers exciting teaching and educational opportunities for dynamic and committed candidates.

The posts are available from August 2015, and are funded for three years in the first instance.

Application closing date is 12 March 2015.

Find out more from the opportunities section of our website.

Foundation announces PhD fellowship
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Kindness for Kids is a charitable foundation that aims to improve the quality of life of children affected by rare diseases.

The foundation recently announced a PhD fellowship to contribute to therapy development for rare pediatric diseases and is looking for a PhD project that develops or tests a new treatment, identifies therapeutic targets or employs a screening platform in the area of rare pediatric diseases using in vitro experiments. For the project to be eligible, patient biomaterials from EuroBioBank and/or RD-Connect should be used in the study.

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27th February 2015
TREAT-NMD newsletter - 27th February 2015
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