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23rd February 2018
 
Voting for TREAT-NMD Executive Committee Membership

Voting begins on the 23rd February to elect two new members of the TREAT-NMD Alliance of the Executive Committee.

We are looking for two new members, one academic representative, and one patient organisation representative, who will join the Executive Committee from March to help with the strategic planning and direction of the Alliance.

We received an excellent response to our call for nominations: the full list of nominees is now available:-

Patient Representative Position

Hasan Adeel, Sigrid Baldanzi, Fabiola Maria Bertinotti, Margaret Bowler, Emily Crossley, Nakamura Harumasa, Jon Hastie, Laura Rufibach, Vanina Sanchez, Denica Velkovska, Tara Voogel & Elizabeth Vroom

Academic Position

Virginia Arechavala-Gomeza, Kristl Claeys, Peter Claus, Rasha El Sherif, Abdallah Fayssoil, Veronika Karcagi, Merrilee Needham, Terence Partridge, Maggie Walter & Shiwen Wu

Voting will be open from Friday 23rd February until Wednesday 7th March, and is open to all TREAT-NMD Alliance members, who will be contacted shortly with information on how to cast their votes.

We will announce the result of the vote in the March edition of the TREAT-NMD newsletter.

 
 
 
Rare Disease Day 2018
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28 February 2018 will be the eleventh international Rare Disease Day coordinated by EURORDIS. On and around this day individuals, patients, patient organisations, health professionals, researchers, drug developers and public health authorities participate in events taking place around the world. The events aim to raise awareness about rare diseases and their impact on patients lives. There are over 6000 rare diseases, an estimated 30 million people living with a rare disease in Europe and 300 million worldwide, but no cures and few treatments are available for the majority of these diseases.

In 2018, the theme for this awareness-raising event is Research. Research is key in bringing hope to the millions of people living with a rare disease across the world and their families. There has been great progress in rare disease research, in big part thanks to the advocacy work of the rare disease patient community.

More information about events happening where you are and how you can get involved in them or indeed, how to organise your own event can be found on the Rare Disease Day website.

 
 
 
 
Myotubular and Centronuclear Myopathy Patient Registry
- New features
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With the support of funding from the Myotubular Trust and Muscular Dystrophy UK, the Myotubular and Centronuclear Myopathy Patient Registry is delighted to announce the introduction of a number of new features.

The registry collects clinical and genetic data on patients who have been diagnosed with myotubular or other centronuclear myopathies; and we are pleased to announce that the availability of online registration has been expanded to include female carriers of x-linked myotubular myopathy and deceased patients. In addition, the online registry is now available in six languages; English, German, Spanish, Polish, and most recently Italian and French.

The Registry was first established in March 2013 to collect information about individuals living with these ultra-rare genetic conditions. Its purpose is to collate high quality clinical data and to establish a cohort of patients, thereby offering a valuable and attractive tool to researchers and industry, and improving the trial readiness of the patient-population. For further information, please click here.

 
 
 
 
Share4Rare
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Share4Rare is a project to develop a new collective awareness platform for social innovation. It was launched in Barcelona on the 11th and 12th of January, 2018.

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.

 
 
 
 
Publication on Biomarkers in CMT-2
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This month an interesting research paper was published in the field of Charcot-Marie-Tooth disease (CMT-2).

The research identified two new possible biomarkers for this disease, which could have indications for disease progression.

This is the first study describing biomarkers that can aid the development of therapeutic strategies targeting a wider spectrum of CMT2 patients.

To read the full article, please follow this link

 
 
 
 
TREAT - NMD Memberships - Update!
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In the December newsletter, the TREAT-NMD Executive Alliance Committee invited you to become a TREAT-NMD member. Our membership total has risen to 560 individual members in February! We are over half way to our target of 1,000 members by 2019.

TREAT-NMD membership is free and our members will benefit from:

  • Discount on TREAT-NMD conference registration fees
  • 20% discount to the Journal of Neuromuscular Diseases individual yearly subscription and 10% discount to Open Access fee for papers being submitted
  • Opportunity to nominate yourself or nominate a TREAT-NMD member to fill a vacancy on the Executive Committee
  • You get to vote on a number of TREAT-NMD matters!

To find out how to become a member and to apply, please click here.

 
 
 
 
ECRD Conference
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The European Conference on Rare Diseases & Orphan Products (ECRD) is the largest multi-stakeholder gathering in Europe for the rare disease community covering research, development of new treatments, healthcare, social care, public health policies and support at European, national, regional and international levels.

“Rare Diseases 360° – collaborative strategies to leave no-one behind” is the overarching theme of ECRD 2018.

The programme encompasses a comprehensive range of topic areas, providing a unique forum for rare disease stakeholders, across all European countries.

ECRD 2018 will take place on 10-12 May 2018, at Messe Wien Congress Center, Vienna, Austria.

For further information on registration, please click here.

 
 
 
 
Job Opportunity - UK
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Organisation: Great Ormond Street Institute of Child Health

Location: London

Position: Clinical Senior Lecturer in Paediatric Neurology/ Neuromuscular Disorders (Full Time)

Salary range: £78,923 - £105,652 per annum (including London Allowance).

To complement and strengthen the existing clinical and academic expertise in pathogenesis, management and development of treatments for childhood neuromuscular disorders, the Great Ormond Street Hospital Children’s Charity and UCL are establishing this new position to help support the current expertise within the Dubowitz Neuromuscular Centre programme of Paediatric Neuromuscular Research.

This new role is expected to contribute to the clinical characterization of patients referred to the Centre and to the translational research activities, take a leadership position in ongoing clinical trial activities, and to develop further original areas of research for these life-threatening conditions. 
The post holder will be expected to develop a research programme to attract significant awards from major funders including Research Councils and/or charities which would be published research in high quality peer review journals and presented through international and national scholarly forums and media relevant to the discipline and disseminated to users (including policymakers) in order to obtain and promote maximal impact from research and to ensure knowledge transfer.

The post holder would hold an honorary consultant contract in paediatric neurology/ neuromuscular disorders at GOSH; participating in the delivery of paediatric neuromuscular clinical care including participating to the multidisciplinary team meetings, and to outpatient clinics.  
It is expected that the candidate will be a competitive clinical academic who will be in the position for an external senior investigator award during the first five years of appointment. Candidates must hold a PhD or MD, MBBS or equivalent, and be eligible for GMC Registration.

For further details about the vacancy and how to apply online please click here and search on Reference Number 1711009

Informal enquiries should be made to Professor Francesco Muntoni (f.muntoni@ucl.ac.uk; +44 207 905 2111) or Professor Rosalind Smyth (ich.director@ucl.ac.uk; +44 207 905 2189). If you have any queries regarding the vacancy or the application process, please contact Madhur Sharma (ich.hr@ucl.ac.uk)


Closing Date: 21 March 2018
Latest time for the submission of applications: 23:59.

 
 
 
 
Events
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International Conference on Current Therapeutics and Interventions in Muscular Dystrophy

23 - 24 February 2018

Bangalore, India

The organisers objective of this conference is to update attendees on all modes of therapeutics in DMD Diagnosis, Clinical management, R&D, Physiotherapy and Rehabilitation. For more information, please click here.

MDA Clinical Conference
11 - 14 Mar 2018

Arlington, USA

The MDA Clinical conference will be held at the Hyatt Regency Crystal City in Arlington, Virginia. The conference aims to bring together over 500 medical and scientific neuromuscular experts from academic, government and industry.
The conference will focus on providing opportunities for physicians and allied health professionals to learn about new approaches and techniques for clinical management, hear about the latest information regarding clinical trials results, engage in dialogue and networking among peers.
For more information and to register, please click here.

16th Annual World Congress on Pediatrics
21 - 22 Mar 2018

New York, USA

On behalf of the Pediatric Chair, Conferences Series LLC cordially invite eminent researchers, students and delegates to take part in this upcoming conference to witness invaluable scientific discussions and contribute to the future innovations in the field of pediatrics. The conference will focus on the latest innovations, problems related to diseases, infant pediatrician and disorders in Pediatrics. It is an opportunity for researchers across the globe to meet, perceive new scientific innovations in the pediatrician directory and journal about pediatrics. The conference will include a child health care workshop, symposium, and special key note session. The organisers would like to encourage the active participation of young student researchers as they are hosting a poster award competition and a young research Forum at the conference. For more information, please click here.

 
 
 
23rd February 2018
TREAT-NMD newsletter - 23rd February 2018
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