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1st February 2013
Rare Disease Day 2013

Rare Disease Day this year takes place on Thursday 28 February. Last year events were held in 63 different countries around the world and event organizers EURORDIS anticipate this number to be even greater this year.

This year's theme is "Rare Disorders without Borders". Looking at rare disease from an international perspective is particularly important, throughout Europe and the USA alone there are more than 6000 rare diseases affecting more than 60 million people and this figure is over 100 million when the rest of the world is taken into consideration.

Advances in rare disease research have more chance of succeeding if sought after internationally when many teams of researchers from different countries work together to understand the disease and find therapies. Financial resources for research also go further if pooled with other funding from various countries: This is the idea behind the International Rare Disease Research Consortium (IRDiRC) which has already rallied the support of 10 countries.

Much more information about the day and how you can get involved can be found on the Rare Disease Day website.

Call for nominees for TREAT-NMD patient representation
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In accordance with the charter, the TREAT-NMD Alliance Executive committee is seeking an additional member for the executive committee representing patient organisations. Please send nominations to Stephen Lynn by the 3rd of March.

Nominees are expected to be or to become members of the Alliance, agree with the TREAT-NMD Alliance Charter and also to provide a short supporting statement. All TREAT-NMD Alliance members (as of March 3) will be asked to vote in late March for their preferred candidate. The successful candidate will join the TREAT–NMD Alliance Executive Committee from April to help with the strategic planning and direction of the Alliance.

If you are representing patients with neuromuscular conditions and are interested in helping us to move towards better treatments and care, then please consider becoming a member of the Alliance’s executive committee.

Both self-nominations and nominations by others are welcome.

Fighting Rare Diseases: 38 million EUR for rare disease research
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A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale. Rare diseases – while individually uncommon – affect one person in every 17. 80% of rare diseases have a genetic component, and they include genetic kidney diseases like nephrotic syndrome and conditions like Huntington’s disease, ataxia and muscular dystrophy.

At a special press event in Barcelona, the EU announced the launch of 38 million Euro funding for research towards new treatments and for the development of a central global rare disease hub involving 70 institutions that will allow scientists to share data from their genomics research projects. This will lead to faster diagnosis and better treatments and improve the quality of life for patients with rare diseases.

The four IRDiRC projects launched in Barcelona focus on international collaborations:

- Identifying the genetic and epigenetic causes of rare kidney disorders – EURenOmics led by Heidelberg University Medical Centre, Germany
- Addressing rare neurodegenerative and neuromuscular disorders using next generation whole-exome sequencing – Neuromics led by the University of Tübingen, Germany
- Developing a global infrastructure to share the research of rare disease projects – RD-Connect led by Newcastle University, UK
- Supporting international rare disease collaboration through IRDiRC – SUPPORT-IRDiRC led by INSERM, France

Launch of cutting-edge omics science for neuromuscular and
neurodegenerative disorders: the Neuromics project gets underway
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The 22 partners that make up the Neuromics project met for the first time last week in Spain as part of a joint kick-off meeting that also included partners from RD-Connect and EURenOmics. Over two hundred people gathered in Sitges, south of Barcelona to learn about partners' past experiences and the exciting plans they have for the coming 5 years.

The EU-funded Neuromics project addresses ten rare neurodegenerative and neuromuscular disorders. Next generation whole-exome sequencing will be used to improve the genetic diagnoses and knowledge of these diseases with an aim to developing future therapies whilst contributing to the IRDiRC goals of delivering 200 new therapies for rare diseases by 2020.

Project co-ordinator Professor Olaf Riess, University of Tübingen, Germany introduced the project together with co-coordinators Professor Brunhilde Wirth, University Hospital Cologne, Germany and Professor Gert-Jan van Ommen, Leiden University Medical Center, The Netherlands.

The kick-off meeting concluded with a number of sessions that touched upon both the ethical and logistical issues that may arise throughout the life of the project.

Please visit the Neuromics website for further information.

CARE-NMD International Conference on DMD
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The organisers of the CARE-NMD International Conference on DMD are pleased to confirm the programme for the two-day event on 18-19 April 2013 at the Hilton Budapest WestEnd, Hungary.

Presentations and panel discussions will be given by John Bourke, Ria Broekgaarden, Kate Bushby, Gergely Bujdosó, Hugh Dawkins, Nathalie Goemans, Jos Hendriksen, Veronika Karcagi, En Kimura, Jan Kirschner, Jordi Llinares Garcia, Hanns Lochmüller, Georgios Margetidis, Peter Mikkelsen, Arpad von Moers, Holly Peay, Jes Rahbek, Birgit Steffensen, Ulrike Schara, Thomas Sejersen, Andoni Urtizberea, Thomas Voit and Elizabeth Vroom.

The six sessions cover a range of topics related to best-practice care for DMD: the international consensus care standards; approaches to evaluating care; quality of life in DMD; the impact on care of future therepeutic approaches; the role of international networks and collaborations; and the results of the CARE-NMD survey.

Registration is open at www.care-nmd.eu/register at a discounted rate of €150 per person including two nights at the conference hotel. Please note that this rate is a strictly limited offer: it is available on a first come, first served basis until Friday 8th March 2013, or until places run out.

A full programme is available to download at the CARE-NMD International Conference website. Although every effort has been made to ensure accuracy, the organisers cannot be held responsible for any errors or changes.

A report from the 2012 Euro-Latin-American
Summer School in Myology
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The Euro-Latin-American Summer School in Myology (EVELAM) was held in Buenos Aires, Argentina 13-15 December 2012. This is the fifth year the summer school has taken place and it was locally organized by Dr. Fabiana Lubieniecki, Dr. Marcelo Rugiero, and Dr. Soledad Monges. The main aim of the meeting was to continue enhancing the knowledge on neuromuscular diseases in Latin America, as well as to give an update on selected topics in the field.

The course was aimed at health professionals with a special interest in neuromuscular diseases, i.e., medical doctors, biologists, and physical therapists.

The following topics were presented: Diagnostic and therapeutic approach of the neuromuscular patient; Imaging in muscular pathologies; Muscular dystrophies in children and adults; Congenital myopathies, metabolic myopathies, motor neuron diseases, immune mediated myopathies and neuropathies, myasthenia gravis and cardiomyopathies.

Dynamic scientist required to join Newcastle team
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The Muscle Group at the Institute of Genetic Medicine, Newcastle upon Tyne, UK, is looking to recruit a dynamic scientist with excellent communication skills and experience of working with industry to fill an important post combining two key roles within the EU projects team.

The successful applicant will coordinate and develop the TREAT-NMD advisory committee for therapeutics and work to maximise the outputs of the ambitious EU funded RD-Connect project with relation to its position and impact in the developing applications of –omics research to rare diseases.

A PhD in a relevant subject (e.g. genetics) is required and applicants should be an enthusiastic and communicative team-worker with an interest in healthcare and international collaboration and have demonstrated experience of working with industry.

This varied and exciting role with extensive opportunities for collaborations with researchers and patient groups worldwide is tenable for 4 years, in the first instance, and will be advertised on the TREAT-NMD website from the 8 February 2013, for 3 weeks.

Informal enquiries should be made to Professor Kate Bushby or Emma Heslop

Post doctoral positions available in Chile
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Two postdoctoral positions are available to undertake research on the molecular and cellular mechanisms involved in muscle dystrophy caused by mutations in dysferlin. Successful candidates must hold a PhD degree in the fields of biology or biomedicine, obtained within the last 4 years.

Prior knowledge of molecular and cellular biology of skeletal muscle cell is highly desirable, as well as an adequate command of the English language. Foreign candidates are most welcome to apply, but they will be required to comply with Chilean legislation for work in the country.

For further details please contact Pablo Caviedes or download the PDF here.

Duchenne Parent Project Onlus
International conference highlight
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The XI International Conference on Duchenne muscular dystrophy and Becker Parent Project Onlus, will be held in Rome from 22-24 February 2013. Leading experts from around the world will gather to update the community on scientific research and clinical management.

The conference will be held at the Ergife Palace Hotel in Rome, where families, physicians, therapists and students can meet and share their experiences with the most influential researchers and clinicians in the field of Duchenne. This will also be an opportunity to examine issues related to daily life that will be addressed during the parallel sessions.

For futher details please visit the Conference website

ENMC call for proposals
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The deadline for sending in applications for ENMC workshops to be conducted in the second half of 2013, is 1 March.  The forms to be completed for a workshop application can be downloaded from the website www.enmc.org.

Please be informed that incomplete applications and applications submitted after the deadline, will not be processed.

If you have any questions regarding this, please do not hesitate to contact the ENMC office.

If you are planning to organize a workshop, but are unsure how to proceed, you may wish to submit a 'pre-application'. This should be in the form of a single page outlining your thoughts on a possible workshop. Together with our Research Committee we can provide suggestions based on your pre-application and if needed help to identify persons who can support you with the full application. Please contact the ENMC office should you wish to discuss this further.

FSHD Global Research Foundation
call for expressions of interest
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The FSHD Global Research Foundation (FSHDGRF) is calling for expressions of interest relating to either a development candidate that could move into IND-enabling preclinical development or a preclinical proof of concept for a potential development candidate.

This call for research project applications is for global collaborative projects leading to Pre-IND applications. These projects are intended to involve collaborations between three different countries with funding up to a maximum of AUD 300,000 per collaborative group over 2-3 years available. FSHDGRF may also offer smaller grants of up to AUD 50,000 for basic research projects and will continue funding pre-existing grants and commitments.

The application process in this latest round for the Multi-national Pre-IND Global Project involves the submission of an initial short expression of interest by 15th March 2013. If successful, this would then be followed by a full application which will be rated by the FSHD Global Scientific Committee.

For further details about the call and applications process please contact admin@fshdglobal.org. Further details about the 2013 Global Pre-IND Tender can be found here.

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1st February 2013
TREAT-NMD newsletter - 1st February 2013
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