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27th November 2015
TREAT-NMD Conference update

We are looking forward to seeing many of you at next week's TREAT-NMD Alliance conference "Growing the drug pipeline for neuromuscular diseases: optimising resources for clinical development of new therapies". The conference is now sold out, however a wait list is in operation, here

For those of you who have registered for the meeting and will be joining us in Washington we would just like to ensure that you have all the logistical and venue information that you need. There is a dress code in place and we would be grateful if you could familiarise yourself with it via this link.

A number of meetings are also taking place prior to the main conference, including the TREAT-NMD Advisory Committee for Therapeutics, and the TREAT-NMD Global Database Oversight Committee as well as the TREAT-NMD Executive Committee. Download an overview of the programme from this page of the conference website.

We look forward to seeing everyone there!

DMD standards of care now available on new multi-lingual site
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The family guide for diagnosis and management of DMD is now also available as an online version for desktop, tablets and smartphones. The website has been developed by Professor Jan Kirschner and his team in Freiburg. The content is the same as in the printed version of the family guide but it is now available to more people because of its user friendly format.

Currently the online version is available in English and German. If you would like to help to make make more languages available online please contact the team in Freiburg at info@dmd-guide.org

We would like to take this opportunity to thank MDA, PPMD and UPPMD for their cooperation with this project.

Institute of Myology Telethon still going ahead as planned
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The AFM Telethon will still take place on 4 & 5 December: the fight of families for the lives of children continues! Events which began on 2 November, will continue until 17 December. The configuration of the Telethon platform will be reviewed to guarantee the safety of all involved; all of our teams, volunteers and employees, are already mobilised

The Telethon is also an opportunity for patients to show their daily difficulties, the concrete progress made in their everyday life, the hopes that research generate. Those patients, whose situation had long been ignored, saw real changes with the Telethon : even people's way of looking at them is different today. The Telethon is also an opportunity for scientists and doctors to explain their discoveries and their projects.

PHENODM1- Recruitment opens for a new natural history study
in myotonic dystrophy type 1
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Researchers in Newcastle and London have opened recruitment for a new natural history study in myotonic dystrophy type 1(DM1). This is an observational study and does not involve the trial of any treatment or therapy. This study is important for doctors and researchers to understand as much as possible about DM1 and how it affects people in different ways. This will help treatments being developed in the laboratory be tested in clinical trials in the future.

The study will include up to 400 people with DM1 and involves visiting a study site twice approximately 12 months apart. Each visit will last approximately 4 hours and during both visits you will be asked to complete exactly the same assessments. This will include walking tests, assessments of muscle strength and function as well as questionnaires that ask about your myotonic dystrophy and how it affects you; this will include questions about pain, fatigue and quality of life. Participation in this study is entirely voluntary. Deciding to take part or not will not affect the care you receive.

This research has been funded by the National Institute of Health Research (NIHR), who are supporting lots of projects looking at rare disease like myotonic dystrophy type 1. The study is being led by Professor Hanns Lochmüller and Dr Chris Turner and is called PHENODM1.

If you would like to take part you must have a diagnosis of DM1, be over 18 years old and able to carry out assessments involved such as walking for six minutes and completing questionnaires.

For more information or if you are interested in taking part in Newcastle at the Royal Victoria Infirmary as part of the John Walton Muscular Dystrophy Research Centre please contact Libby Wood, 0191 241 8640

If you are interested in taking part in London, Queen Square at the National Hospital for Neurology and Neurosurgery please contact Louise Spiegel, 020 344 88015   

E-Rare-3 Call for Proposals 2016
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E-Rare-3 Call for Proposals 2016 for "Clinical research for new therapeutic uses of already existing molecules (repurposing) in rare diseases".

The eighth E-Rare joint call for funding multilateral research projects on rare diseases (JTC2016) will be open on the 7 December 2015. The following 14 countries intend to participate in this call: Austria, Canada (including Quebec), France, Germany, Hungary, Israel, Italy, Latvia, Poland, Portugal, Romania, Spain, Switzerland, Turkey.

The specific objective of this call is to promote the clinical and pre-clinical proof of concept for the potential application of medicinal products in rare indications either already marketed or having achieved a significant stage in the development process.

Two types of projects will be eligible for this call: -

Type A: Preclinical studies to verify target engagement and to perform additional toxicity testing if necessary (for example in the case of paediatric indications where juvenile animal studies might be warranted) in a disease model for a maximum period of one year followed by the implementation of Phase 1b or Phase 2a clinical trials at the beginning of the second year of the project.

Type B: Milestone-driven Phase 2 clinical trials to demonstrate that the Agent modulates the target and has the potential to yield the desired clinical outcome in the proposed disease population for a period up to three years.  Projects shall involve a group of rare diseases or a single rare disease following the European definition i.e. a disease affecting not more than five in 10.000 persons in the European Community, EC associated states and Canada.

The use of existing European health research infrastructures or initiatives is strongly encouraged when appropriate. The following European Research Infrastructures or Initiatives were identified as potentially useful for this kind of study: BBMRI; EATRIS; ECRIN; ELIXIR; EU-OPENSCREEN; INFRAFRONTIER; RD-Connect and European Medicines Agency

For more information, visit the E-Rare website

ICNMD 2016 - Registration now open
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Registration is now open for the 14th International Congress on Neuromuscular Diseases will be held from 5-9 July 2106, in Toronto, Canada

The program committee is planning an exciting program ranging across the spectrum of neuromuscular disorders. There will be sessions on muscular dystrophies, other myopathies, myasthenia gravis, polyneuropathies, spinal cord disorders, and neurofibromatosis to name some of the major themes within the Congress. There will be updates on our understanding of the genetics, pathogenesis, evaluation and treatment of neuromuscular disorders. At the end of this Congress, attendees will have garnered the most up-to-date information available in neuromuscular disorders.

For further information, visit the congress website.

ECRD 2016: Open call for poster abstracts
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The 8th European Conference on Rare Diseases and Orphan Products (ECRD 2016) will take place on the 26-28 May 2016 in Edinburgh, Scotland.

Over 800 members of the European and International rare disease community are expected to attend. The call for poster abstracts is now open and will close on the 31 January 2016. This is your opportunity to communicate your activities to all rare disease stakeholders.

Patient organisations, academics, health care professionals, industry and all other interested parties having conducted research or studies on rare diseases or public health projects are encouraged to submit a poster abstract. The three most outstanding posters (to be determined by the ECRD Poster Committee) will be awarded a special certificate.

ECRD 2016 posters that address any of the following themes are particularly encouraged - Game Changers in: Research; Diagnosis; Drug Development, Authorisation & Access; Care Provision; Social Policy; Global Society; Rare Disease Patient Groups Innovations as Game Changers; and any other topics that you would like to communicate to the rare disease community. The themes mentioned above suggest topics the Programme Committee would like to have addressed and should serve as a valuable guide as you develop your poster abstract.

Find out more about the how to submit a poster for ECRD 2016

RD-Connect Science Communication and Impact Coordinator
application for vacancy opening soon
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Newcastle University will be recruiting for a RD-Connect Science Communication and Impact Coordinator in the coming weeks.

In this key international communication role, the post holder will coordinate the scientific and lay dissemination of information to the rare disease community to maximise the outputs of the ambitious RD-Connect EU funded project.

They should have a degree-level qualification in a relevant discipline. Prior experience in a communications and or healthcare environment is an advantage, as is a basic understanding of medical and genetic research.

The post holder should be an excellent communicator with an enthusiasm for disseminating key outputs of the project. They should also be comfortable synthesising outputs of other projects and research findings relevant to the project to update partners and wider rare disease field.

If you would be interested in being part of an international, multidisciplinary team working in genomics and rare disease research you may apply for the position via the university vacancies page once it is advertised in December. In the meantime, for informal enquiries please contact Emma Heslop or Prof Kate Bushby.

This 0.6FTE post is tenable for 34 months.

For further information about the project please visit the RD-Connect website

MRC Centre for Neuromuscular Diseases - Fellowship Applications
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The MRC Centre for Neuromuscular Diseases is the largest clinical and research centre in the UK for patients with diseases such as peripheral neuropathy. The peripheral nerve group in this centre, led by Professor Mary Reilly, together with a number of US centres has been awarded a grant from the NIH to form a Rare Diseases Clinical Research Consortium (the inherited neuropathy consortium (INC)) to carry out research into hereditary neuropathies. We are pleased to announce as part of this consortium the establishment of a neuromuscular fellowship programme (for 1-2 years) specialising in hereditary neuropathies. Ideally applicants will be expected to be in the fourth or final year or have recently completed their SPR adult or paediatric neurology training or equivalent. More junior applicants if appropriate can be considered. For applicants, an essential requirement will be the long term career aim to develop a clinical or laboratory research interest in hereditary neuropathies.

The fellowships will offer a broad training in all aspects of clinical research in inherited neuropathies as well as an opportunity to conduct a more detailed research project of the trainee’s choice. The 2 year programme will be based in the MRC Centre in the Institute of Neurology, Queen Square, London but there will be an opportunity to train in other centres. All UK trainees will be encouraged to spend 3 months in the US.

Interested applicants should email Jacky Molyneaux j.molyneaux@ucl.ac.uk for further details.

Closing date of applications is 5 January 2016.

Volunteers needed!
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Help wanted!

DNA diagnostics is based on sharing data on genes, variants and phenotypes. Without sharing, DNA diagnostics would not be possible, sharing allows us to offer optimal care to the patients and their families. To provide the vital gene variant databases that are used on a daily basis we depend on volunteers; the curators who are guardians of one or more genes. The curator is responsible for checking incoming data (submissions), promoting the database and adding data from literature. The Leiden databases need more hands to cope with the work involved. Please consider helping us. It will not take much of your time and the work is highly appreciated.

The reward?

The opportunity to write highly cited database updates. Great experience to add to your CV. Curators receive many thanks from users who value the important work. The curator may become instantly famous, known as THE expert for the gene!

Still not convinced?

Please be aware that with 7 billion people on the planet and having only 25,000 human genes the chance of becoming a curator is as rare as competing in the Olympics.

For further information, please contact: Johan Den Dunnen databases@JohanDenDunnen.nl or visit our website

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27th November 2015
TREAT-NMD newsletter - 27th November 2015
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