A very interesting news has been brought to our own attention by CMT France Association. It concerns the 197th Laboratory ENMC entitled “Neuromuscular disorders of mitochondrial fusion and fission – Molecular mechanisms and therapeutic strategies” which took place in April 2013 in Naarden, Netherlands (the report of which has been recently published).
The European Neuromuscular Centre (ENMC) is an international organisation aimed at supporting the research in the field of neuromuscular disorders through regular international meetings which put together scientists, physicians and patients from all over the world to deal with a particular theme. The subjet of its 197th workshop was Mitofusin 2 (and not only) and its purpose was to better understand the basic mechanisms behind the MFN2 gene mutations responsible for the development of Charcot-Marie-Tooth type 2A (CMT2A).
In Naarden, a team of 19 people (consisting of physicians, researchers and patients from Europe and United States) investigated the two genes (OPA1 and MFN2) and the diseases their mutations are responsible for, on the basis of scientific publications. After a detailed analysis and description, three key deliverables were achieved by partecipants at the end of the meeting regarding the creation of:
- a biobank with collaborative access to further explore fundamental disease mechanisms in CMT-2A and DOA;
- clinical registry of well-characterised patient cohorts for the purpose of future clinical studies, including treatment trials.
You guys remember that Mitofusin 2 Project already have the biobank among its future project? What do you think about?