On the occasion of the 3rd Rare Disease Day, Stéphane Roques, Secretary General of the Institute of Myology, discusses the involvement of the Institute in research, teaching and management of these rare diseases that include neuromuscular diseases.
 
Why Rare Disease Day?
Rare Disease Day has four goals, foremost, to educate the public but also rare disease policymakers and to strengthen their status as a public health priority. It also serves to make the voice of patients more audible. Moreover, it provides hope and information to patients with rare diseases, especially those who do not have a support network. Finally, it strengthens the international collaboration in the fight against rare diseases.
 
Does such an international event have a political and scientific impact?
Fortunately, scientific collaborations existed before the creation of this event. However, it is always useful to recall the priorities during a day that highlights issues that concern us! That being said, politically, the European Union will become more involved and encourage research in the field of rare diseases, as stated in the text* adopted in June 2009 by the health ministers of the EU. It is clearly stated that it is “to contribute to policy making: for a European collaboration in the field of health services and medical care for rare diseases”.
 
What is the role of the Institute of Myology in the field of rare diseases in France?
We are involved in the field of neuromuscular diseases at several levels. At the scientific level, first of all thanks to the researchers of the Institute who are constantly forging collaborations with laboratories around the world and are part of many networks. In addition, we participate actively in the implementation and monitoring of clinical trials on several rare diseases (neuromuscular diseases, lysosomal...). The education department also offers a specialization for French and international students and doctors, creating a vibrant community of over 400 former “students” from 67 nationalities. Finally, our expertise in treatment is recognized and  consultation has just been renewed for 5 years (2nd national plan for rare diseases 2010-2014) as a major player in a reference center for diagnosis, management and follow-up of patients with neuromuscular diseases.
 
* The Board Recommendation of 8 June 2009 related to an action in the field of rare diseases http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF
 
February 2010
Interview by Anne Berthomier, translation by Racquel N. Cooper