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
back to top    

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
back to top    

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.

In Barcelona on 24 January, the EU announced 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 revolution in DNA sequencing, which means an entire human genome can now be sequenced within days and for less than 10,000 Euro, has brought the hope of personalized treatments for many of these diseases a step closer.

Professor Hanns Lochmüller of Newcastle University, UK, who is leading the new rare disease hub, said: “Being able to sequence a person’s entire genetic code is an important advance, particularly for people living with the many rare genetic disorders, but it has also shown us that sequencing is only the first part of the story. It doesn’t replace clinical expertise – in fact, being able to combine genetic data with clinical data is more important than ever.”

Dr Ségolène Aymé, Emeritus Director of Research at INSERM, the French Institute of Health and Medical Research, added: “Sequencing produces a vast amount of information, but in most cases it will find hundreds of genetic changes in each person. We now need to collate the data internationally to discover which change – or combination of changes – actually causes the disease.”

The International Rare Diseases Research Consortium (IRDiRC), under which these new grants have been awarded, aims to accelerate research into rare diseases. Professor Paul Lasko of McGill University in Montréal, Canada, Chair-Elect of the IRDiRC Executive Committee, explained: “IRDiRC’s goal is to reach 200 new rare disease therapies, and diagnoses for all rare diseases, by the year 2020. To this end, it is today launching three major projects which will combine international genetic data with clinical information and data on biomaterials to help interpret the vast amounts of data the genome yields. This will aid scientists in the search for genetic causes of diseases and help identify new ways to create targeted therapies”.

Professor Lochmüller said: “Already we have drugs being tested in clinical trials which can, in effect, patch up the faults in the genes for some rare diseases such as Duchenne muscular dystrophy. Drugs like this are at the vanguard of a new generation of therapies that change a person’s genes rather than just treating their symptoms, and they have the potential to make a real difference to the quality of life of people with the condition. By sharing data and clinical expertise in this structured way across an international network, we hope to discover similar life-changing drugs for other rare diseases.”

A rare disease is defined by the European Union as one that affects fewer than five people in every 10,000 of the general population. There are between 6,000 and 8,000 known rare diseases, and approximately 30 million people across Europe are affected by a rare disease.

The four IRDiRC projects being launched in Barcelona have received nearly 40 million EUR of funding for cutting-edge research and collaboration over the next six years. Funding focuses 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


The projects funded by the EU under the IRDiRC:

EURenOmics (www.eurenomics.eu) focuses on rare kidney disorders and aims to identify novel genetic and epigenetic causes and modifiers of disease and their molecular pathways, develop innovative technologies allowing rapid diagnostic testing, discover and validate biomarkers of disease activity, prognosis and treatment responses, and develop in vitro and in vivo disease models to apply high-throughput drug candidate screening.

Coordinator: Professor Franz Schaefer MD, Heidelberg University Medical Center, Germany

Neuromics (www.rd-neuromics.eu) addresses rare neurodegenerative and neuromuscular disorders and will use next generation whole-exome sequencing (WES) to increase the number of known gene loci, increase patient cohorts through large scale genotyping by gene panel enrichment and next generation sequencing, develop biomarkers for clinical application with a strong emphasis on presymptomatic utility and cohort stratification, identify disease modifiers and develop targeted therapies using latest generation genetic approaches. Trend-setting for future EU projects, top scientists from the US, Canada, and Australia participate in the network.

Coordinator: Professor Olaf Riess MD, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany. Co-coordinators Professor Brunhilde Wirth, Institute of Human Genetics, Cologne, Germany, and Professor Gert-Jan von Ommen, Institute of Human Genetics, Leiden, The Netherlands

RD-Connect (www.rd-connect.eu) will develop a global infrastructure for sharing the research outputs of these and other rare disease projects, enabling scientists and clinicians worldwide to access a single centralized repository for omics data, phenotypic and biomaterial information. Every IRDiRC research project will be entitled to share its own data and access related data from other projects under policies agreed at a global level.

Coordinator: Professor Hanns Lochmüller MD, Institute of Genetic Medicine, Newcastle University, UK

Support-IRDiRC (www.irdirc.org) provides the organisational support for the implementation of the International Rare Diseases Research Consortium in close collaboration with the European Commission, the NIH and research funding agencies from participating countries, as well as with relevant research projects supporting IRDiRC objectives.

Coordinator: Dr Ségolène Aymé, Emeritus Director of Research, INSERM, France

The International Rare Diseases Research Consortium (IRDiRC) aims to foster international collaboration in rare disease research, a highly challenging area of medical research that has the potential to benefit tremendously from the recent advances in genomics, proteomics and other omics technologies. IRDiRC has set itself the bold aims of delivering 200 new rare disease therapies and diagnosis for all rare diseases by the year 2020. Spearheaded by the European Union, the United States National Institutes of Health and the Canadian Institutes of Health Research, the IRDiRC now numbers 29 member funding institutions across the world. This global collaboration between major research funders will ensure greater harmonization of rare disease research activities and lay the foundations for future networking that is essential to accelerate progress in the field.

Launch of cutting-edge omics science for neuromuscular and
neurodegenerative disorders: the Neuromics project gets underway
back to top    

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
back to top    

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
back to top    

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
back to top    

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
back to top    

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
back to top    

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
back to top    

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
back to top    

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.

Upcoming meetings
Submit an article
1st February 2013
TREAT-NMD newsletter - 1st February 2013