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22nd February 2013
 
Rare Disease Day 2013

Don't forget Thursday 28 February is Rare Disease Day 2013. Coordinated by EURORDIS this year's slogan is 'Rare Disorders without Borders'.

Events have been planned in over 60 countries around the world. Visit the Rare Disease Day website to find out if there's an event happening in your local area.

 
 
Call for nominees for TREAT-NMD patient representation

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.

 
 
 
CARE-NMD International Conference on Care in Duchenne
muscular dystrophy: last chance for discounted registration
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There are only a few days left to take advantage of the discounted registration package for the CARE-NMD conference which takes place on 18-19 April 2013.

The package costing €150 per person includes entry to the conference and also two nights accommodation at the conference hotel, Hilton Westend, Budapest, Hungary. This offer is only available until 8 March and numbers are now very limited. Register now at www.care-nmd.eu/register to take advantage of this deal.

The conference features an exciting programme of international speakers, with sessions covering a range of topics around best-practice DMD care. The full programme along with further information about the conference is now available on the CARE-NMD website.

 
 
 
 
Dr Günter Scheuerbrandt releases new report on exon skipping
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Dr Günter Scheuerbrandt's most recent report on the current research approaches for DMD is now available to download from his dedicated page on the TREAT-NMD website. This latest report, written specifically for the non-scientific community, provides a comprehensive overview of the genetics behind DMD, a detailed explanation of the exon skipping process along with information about current trials around the world.

Although Günter will be updating this report if there are any major changes to the content, we are sad to announce this will be his last full report. We would like to thank Günter for all his hard work producing these reports and we hope that they continue to help the provide Duchenne community with a greater understanding of the disease in the future.

 
 
 
 
Research Associate/ Postdoctoral Scientist: to lead on
impact activities for EU network required
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A dynamic scientist with recent experience in the omics / translational research field with excellent communication skills and experience of working with industry is required. This important post combines two key roles within the EU projects team in the Muscle Team at the Institute of Genetic Medicine, Newcastle upon Tyne.

Primary focus will be on working with leading scientists in the omics field to maximise the impact of the ambitious EU funded RD-Connect project with relation to rare diseases.  Additionally, the successful candidate will work with industry and academics to co-ordinate and develop the TREAT-NMD advisory committee for therapeutics.

This is a varied and exciting role, requiring a high level of knowledge in the omics / translational research field, with extensive opportunities for collaborations with researchers and patient groups worldwide.

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

The successful candidate will join an international, multidisciplinary team working in the area of translational research for neuromuscular diseases and other rare disorders. The post will be based at the Newcastle Muscle Centre, a medical research group and internationally recognised care centre for neuromuscular patients that is led by Professors Kate Bushby, Volker Straub and Hanns Lochmüller and situated within the Institute of Genetic Medicine at the International Centre for Life in Newcastle upon Tyne. This dynamic group is responsible for a number of European projects in the rare disease field and you will join a team of staff working in this international environment.

The post is available for 4 years in the first instance.

Informal enquires should be directed to Professor Kate Bushby (Kate.Bushby@ncl.ac.uk) or Emma Heslop (Emma.Heslop@ncl.ac.uk)

 
 
 
 
OPTIMISITC: Collaborative Myotonic Dystrophy study launched
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Optimistic: Observational Prolonged Trial In Myotonic dystrophy type 1 to Improve Quality of Life - Standards, a Target Identification Collaboration.

Optimistic is the first ever project to focus on myotonic dystrophy and involves an international multicentre intervention. The study which was awarded €3million from the European Commission's FP7 call in 2012 is coordinated by Baziel van Engelen from Radbound University Nijmegen Medical Centre in the Netherlands and also involves seven collaborative partners from France, Germany, United Kingdom and the Netherlands.

Optimistic will investigate the effect of exercise training and cognitive behavioural therapy (CBT) on patients with myotonic dystrophy in order to find new and innovative ways to improve quality of life; In doing so protocols and guidelines will be developed specifically for this complex disease. Over 200 patients will be involved in this project across Europe amd recruitment is expected to start in 2014. In addition OPTIMISTIC will utilise this opportunity to work towards standardising cardiac screening procedures and to carry out genetic analysis to better develop prognosis tools. Furthermore OPTIMISTIC aims to develop and validate clinically significant outcome measures that can be used in future clinical trials.

The growing number of myotonic dystrophy patient registries may be utilised to identify and recruit suitable patients to take part; more information about registries is available here. The project will be closely linked to the TREAT-NMD Alliance and you will be able to find updates on our website.

 
 
 
 
Register now for 5th International CMT Consortium Meeting
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Registration for the 5th International CMT Consortium Meeting - 25-27 June, Antwerp, Belguim - is underway and will close on 15th May 2013. This fifth meeting will follow the same format as previous, with the emphasis on oral and poster presentations, along with ample time for discussion and interaction. The programme foresees a plenary lecture, platform and poster presentations covering clinical, diagnostic and basic research of peripheral neuropathies. A final programme will be send to all participants by fax or e-mail before June 1st 2013. An abstract book, including list of participants and sponsors will be available at the meeting. The aim is to exchange new information and, equally important, to start or strengthen collaborations between research groups.

Registration and abstract submission deadline is 15 May 2013

 
 
 
 
TACT applications for review announced
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TACT is pleased to announce the following applications will be reviewed at the TACT meeting scheduled for 27 – 28 April, Baltimore, MD, USA:

1. Peter Flynn, Fate Therapeutics Inc, San Diego, CA, USA: Wnt7a-Analog Protein Therapeutic for the Treatment of Muscular Dystrophy
2. Jon Tinsley, Summit Corporation plc, Abingdon, UK: Clinical development of SMT C1100, a utrophin modulator for the treatment of Duchenne muscular dystrophy

According to the process TACT will generate a detailed report with program development recommendations to the applicant within 6 weeks following the meeting.  A non‐confidential report summary, developed in collaboration with the applicant, will be available via the TREAT‐NMD website within 8 weeks following the meeting.

Dates for the subsequent TACT meeting are soon to be confirmed and individuals interested in potentially submitting an application should send an expression of interest to the TACT secretariat Agata Mertyn as soon as possible.

 
 
 
 
EMBO workshop - Molecular mechanisms of muscle growth
and wasting muscle disease
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Registration is now being taken for EMBO Workshop which is scheduled to take place 15-20 September 2013 in Ascona, Southern Switzerland.

This meeting will focus on the molecular mechanisms involved in muscle wasting diseases including cachexia, sarcopenia and muscular dystrophies. Its focus on disease aspects in skeletal muscle, its interactive format and its small size makes this meeting unique.

The conference is limited to 120 participants. and an excess of applications is anticipated. To assist with the selection of participants and speakers for short talks you are highly encouraged to submit an abstract.

The conference program will feature the following sessions:

- Repair mechanisms of skeletal muscle
- Disease of the nerve-muscle connection
- Excitation-contraction coupling, calcium handling and mitochondria
- Mechanisms controlling muscle size
- Epigenetics and microRNAs in muscle function
- Metabolic dynamics of skeletal muscle
- Interaction of skeletal muscle with other organs
- Mechanisms of sarcopenia and cachexia<
- Muscular dystrophies and development of therapeutic strategies

The conference will take place at the Centro Stefano Franscini, the conference center of the ETH Zurich, located at Monte Verità, a beautiful hill on top of the lake town of Ascona, in Southern Switzerland.

 
 
 
 
ENMC require research committee members
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ENMC´s scientific activities are guided and coordinated by the ENMC Research Committee which is currently chaired by Professor Baziel van Engelen. This year, three committee members  Professor H. Lochmüller and Dr M. Rose and Professor J. Beckmann will be stepping down after 6 years of membership. These experts have been providing scientific guidance on aspects of basic science and on translational and clinical research.

As a result in June 2013, the ENMC will be seeking to appoint three new research committee members. Members will be required to assess, and comment upon, workshop applications during a bi-annual evaluation meeting to ensure workshops proceed successfully. Members are also expected to represent ENMC within the Neuromuscular Community increasing the awareness of ENMC´s activities and to support ENMC in making further progress in networking of scientists and clinicians whilst contributing new ideas and suggestions on ENMC´s positioning and future activities.

Click 'more' for further information.

 
 
 
 
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22nd February 2013
TREAT-NMD newsletter - 22nd February 2013
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