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28th February 2014
 
Today is Rare Disease Day!

Held on the last day of February, Rare Disease Day is an annual, awareness-raising event co-ordinated internationally by EURORDIS and by National Alliances and Patient Organisations on a national level. The main objective of the day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

Thousands of people from 84 countries around the world are currently particpating in various events which range from a rare disease symposium in California to coffee mornings in the UK and public lectures in New Zealand. All have the same aim of drawing attention to rare diseases and the millions of people who are affected by them. Since Rare Disease Day was first launched in 2008, more than 1000 events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.

This year’s slogan isJoin Together for Better Care’. Visit the Rare Disease Day website to find out more.

 
 
 
PhenomeCentral “matchmaking” portal
launched on Rare Disease Day
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A new online system to match up patients with similar genotypes and phenotypes is being launched today. PhenomeCentral aims to connect clinicians and scientists worldwide with others working on similar cases and thereby speed up the discovery of genes responsible for rare disorders.

In a press release, co-lead Michael Brudno, an associate professor with the University of Toronto’s Department of Computer Science who also holds an appointment in the Centre for Computational Medicine at the Hospital for Sick Children explains how the new portal will work. "PhenomeCentral securely stores clinical and genetic information on patients with undiagnosed rare diseases. Clinicians will upload information and the database will automatically and anonymously match patients with similar genome and phenotypes."

Rare disease research is conducted in disparate centres all over the world, but the rarity of the conditions makes it imperative for researchers to collaborate across national boundaries to solve their undiagnosed cases. "Being able to 'plug in' a tool like PhenomeCentral to our data-sharing platform means that we can make use of the power of its match-making abilities to find similar patients and advance research," said RD-Connect coordinator and past TREAT-NMD Chair Hanns Lochmüller.

PhenomeCentral is funded by the Canadian Institutes of Health Research (CIHR), Genome Canada, the Ontario Genomics Institute, as well as the National Sciences and Engineering Research Council (NSERC) through the Collaborative Health Research Program. For further information and to read the full press release visit the RD-Connect website.

 
 
 
 
PEC Statement on Stem Cell Research
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The TREAT-NMD PEC (Project Ethics Council) has issued a new statement on stem cell research in neuromuscular diseases. This is not the first time the Council has issued guidance on this topic, but in light of continued discussions and concerns it has received, the PEC believes it important to highlight key aspects of the current situation in this technology.

In particular, the PEC notes that its previous guidance on stem cells remains valid, and that stem cells are not a proven treatment for neuromuscular diseases. To become a proven treatment, stem cells must first undergo rigorous clinical trials to prove they are both safe and effective. These trials should be well-designed and approved by regulators. ‘n = 1’ trials or other individual applications of stem cells do not fall within this category, and direct offers of unproven so-called ‘treatments’ to families are unethical and cannot be endorsed by the PEC.

Although stem cells are a promising area, much more research is needed before they can be considered a safe and effective treatment for humans. The PEC encourages families to contact TREAT‐NMD if they have further questions.

 
 
 
 
TACT tutorial highlight
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‘Supporting the pathway to trials for rare diseases: clinical trial design and other considerations’ is the title of the TACT tutorial which will take place on Thursday 8 May, 2014. This session will be one of the four pre-conference tutorials preceding this year’s ECRD conference in Berlin. The main objectives of the tutorial are:

-  to gain a greater appreciation of how TACT reviews provide guidance and advice to the neuromuscular community on the prioritisation of likely candidates for entry into clinical trials in neuromuscular diseases
-  to understand how a TACT review can be used to provide the background for preparing funding applications and investigational drug applications, and to provide an objective and well informed appraisal to be shared with the wider neuromuscular community

This tutorial will be of interest to all those who would like to hear more about the TACT model to guide development of therapies for rare diseases, in particular clinicians, researchers, patient advocacy groups and industry.

 
 
 
 
TREAT-NMD Executive Committee meets in Rome
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The TREAT-NMD Executive Committee held a face-to-face meeting in Rome on 21 February 2014, as a satellite meeting of the Parent Project Onlus conference. There were 11 attendees, led by Chair Annemieke Aartsma-Rus and Vice Chair Eric Hoffman, with Jan Verschuuren also present in his capacity as chair of the TGDOC. The Committee welcomed Alejandra Pereda Alonso, of Parent Project Spain, who was attending her first meeting in her role as a patient representative.

The committee discussed the 3-year TREAT-NMD action plan, work on which has progressed steadily since the last meeting in Newcastle in November, and will be completed in the next few months. This document, which sets out the priorities of the Alliance for the next few years, will be published on the TREAT-NMD website.

The Executive Committee would like to thank to Filippo Buccella, of Parent Project Onlus, for generously hosting this meeting alongside the Conference.

 
 
 
 
MTM Global Map
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The "Family Registry for Centronuclear and Myotubular Myopathies" is an international patient registry collecting information about those whose lives have been affected by CNM/MTM. Using this information a global map indicating the geographical spread of those affected by the disease has been developed. With the consent of those who have registered the data collected by the registry will be used for research initiatives to help unlock the mysteries of CNM/MTM.

Please note: if you are already included in other registeries you are still welcome to add your details to this registry as it will greatly help build a visual representation of the MTM/CNM community using geotagging.

 
 
 
 
From EUCERD to European Commission Expert Group
on Rare Diseases
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The European Union Committee of Experts on Rare Diseases (EUCERD) has served the wider rare disease community from its official creation in late 2009 through to the summer of 2013 when its mandate expired. The primary role of this body was to support the European Commission in formulating and implementing EU policies and activities in the rare disease field. One key way in which the EUCERD fulfilled this mandate was to issue a series of recommendations, generated through expert multistakeholder consultations, meetings and workshops. The EUCERD recommendations can be found here.

On 11-12 February 2014 the first meeting of the European Commission’s Expert Group on Rare Diseases took place in Luxembourg. This body, chaired by the Commission itself, is the successor to EUCERD. The group inherited EUCERD’s mandate to promote the exchange of policies and practices the rare disease field between Member States of the EU and all relevant stakeholders.

To achieve this, all Member States will appoint to this body a delegate, who will serve alongside representatives of patient organisations, the pharmaceutical industry, and European professional associations and scientific societies related to rare diseases.

We are delighted to announce that Professor Kate Bushby from our secretariat is part of this new expert group. This role will allow her to continue to apply real-life experience and insight gained from the neuromuscular field into the world of rare diseases more broadly.

 
 
 
 
12th Parent Project Onlus Conference, Rome - 21-23 Feb 2014
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The Italian DMD patient organisation, Parent Project Onlus, hosted its twelfth annual conference at the Ergife Palace Hotel in Rome on 21-23 February. Over three days, eight core sessions were held, with more than thirty speakers delivering talks on a wide range of subjects from clinical care to the latest therapeutic approaches. Talks were delivered in both Italian and English, with simultaneous translation enabling full participation by all attendees.

The conference also received a personal message from Pope Francis, who had received a delegation from the Muscular Dystrophy Association Argentina consisting of Adriana Parisi (President), Santiago Ordoñez (Treasurer) and Daniel Brow. The Pope prayed for the success of the Conference, and of the work of all those who participated in order to help patients and those who assist them.

Videos of the conference sessions are available in Italian can be found here.

 
 
 
 
OPTIMISTIC - First newsletter marks start of recruitment
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The OPTIMISTIC study which looks at the effect of cognitive behavioural therapy (CBT) on patients with myotonic dystrophy type 1, has published its first newsletter.

Coordinated by Prof Baziel Van Engelen in Nijmegen the study will be carried out at four clinical sites across Europe namely Paris, Munich, Newcastle upon Tyne and Nijmegen. Site specific approvals are now in place and the majority of sites will start recruitment in March.

The newsletter which is aimed at the patient and general population provides an overview of the study including what can be expected for those wishing to take part. Initially the newsletter is available in English and German via the website; a Dutch and French translation of the newsletter will follow shortly.

If you would like to receive newsletters and updates about the project then please visit the OPTIMISTIC website.

 
 
 
 
EVELAM convenes in Mexico
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Formed in 2012 the Euro-Latin-American Summer School in Myology known as EVELAM convened for the sixth time in December 2013 in Cancun Quintana Roo, Mexico. The main aim of the school is to promote the diagnosis and study of neuromuscular disorders.

The course, which was held in Spanish, saw guest speakers coming from across Europe and the Americas. This year 164 participants from Brazil, Chile, Uruguay, Mexico, Paraguay, Peru, Colombia, Ecuador and Argentina attended the meeting. Among participants there were representatives from various disciplines including neurology, rehabilitation and paediatrics.

Topics inlcuded: diagnostic and therapeutic approach to the neuromuscular patient; muscular dystrophies in children and adults, congenital myopathies, metabolic myopathies, motor neuron diseases, immune mediated myopathies and neuropathies and myasthenia gravis. Additionally, there were clinicopathological case discussion workshops including cases presented by students.

Representatives from a number of parent associations: ADMO (Asociación Distrofia Muscular de Occidente), ALDIM (Asociación Leonesa para la Distrofia Muscular) and SMDM (Sociedad Mexicana de la Distrofia Muscular A.C.) were special invitees at the summer school. They gave presentations on their their projects and achievements whilst their contribution was acknowledged to be of great value. The Jain Foundation also presentated at the meeting discussing the possibly of establishing a Latin American network to help patients get genetic diagnosis.

EVELAM provides an opportunity for continuous training and an exchange of knowledge between Latin America and Europe with the aim of advancing care, diagnosis, and treatment of patients with neuromuscular disorders. It is hoped that these events will continue in the future to give as many specialists interested in neuromuscular disorders as possible to an opportunity to attend them. A great thank you goes to the local committee and also to the the international Scientific Committee who made this event possible.

 
 
 
 
PhD studentship opportunity at
MRC Centre for Neuromuscular Diseases in Newcastle
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An opportunity has arisen for a PhD studentship which will explore the role of physical activity and exercise in the care of people with myotonic dystrophy as part of a large European collaboration called OPTIMISTIC.

The student will undergo learning in the areas of clinical care, exercise testing and prescription, physiology and undertaking and analysing clinical research data. They will spend time in specialised neuromuscular clinics as well as within the clinical physical activity and exercise testing facility.

This prestigious studentship will suit someone with a background in physical activity, exercise or physiotherapy but should have substantial experience of working with patients in a clinical setting. We will work with the student to optimise their training pathway around their key strengths and help in the development of new areas.

For further information about this studentship please visit the postgraduate section of the Newcastle University website.

 
 
 
 
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28th February 2014
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