Research

Every initiative of the AFM, from fundamental research into the muscle to the development of innovative treatments and including molecular biology, is undertaken with a single objective: cure. Because the disease can still be a killer, the AFM’s strategy aims to reach this objective as quickly as possible. Through its different forms of targeted action, the AFM is at the origin of a real medical revolution generated by a better understanding of genes. Thus it plays a pioneering role in areas where both State and industry are absent. It plays this role by supporting and encouraging both work of general interest in the field of drug development and in the research for innovative treatments.


The integrative policy of the AFM has led it to support or take charge of the development of general interest tools and programmes that are of use to all rare genetic diseases, including neuromuscular diseases.
DNA and tissue banks : collecting and storing the raw material of research

Like 80% of rare diseases, the majority of neuromuscular diseases are of genetic origin. Finding the genetic anomaly responsible for a disease necessitates having the DNA of the members of the same family (as well as other families) in order to search for a link between the genome, the modifications and the disease.Therefore, as early as in 1989 the AFM launched its first campaigns for samples aimed to collect the DNA of patients and their families. It contributed to the setting up of banks where the collected DNA could be preserved for research purposes. Today, 14 DNA banks have benefited from the support of the AFM – in metropolitan France, French overseas territories, Europe and North Africa.

In order to promote the physiological and physiopathological analysis of rare diseases, the AFM set up a TBR (Tissue Bank for Research) in 1996. It is responsible for the collection, storage and distribution of tissue samples to research teams.
Genethon : from genes to treatments

Today Généthon has made its entry into the era of therapeutic trials, setting up 6 strategic clinical projects for neuromuscular diseases and immune deficiencies, collaborating in trials concerning epidermolysis bullosa, adrenoleukodystrophy etc and – in 2005 – opening a clinical vector production unit. Also Généthon is pursuing its research into emerging therapeutic leads, in particular exon skipping and stem cells.
Genopole: encouraging the crossover of fundamental to applied research
With the success of Généthon came the birth of a political will and the State took over. The know-how of Généthon was transferred to the National Centres of Genotyping and Sequencing installed at the Genopole at Evry. This campus, created with the AFM’s support in 1998, is dedicated to genetics, genomics and biotechnologies and today heads an association of 25 public laboratories, 50 life-science high technology companies and university training courses.
Décrypthon: studying proteins and their interactions
After genomics, the AFM is now tackling proteomics (understanding of proteins and their interactions). Décrypthon was launched in 2001. By mobilising the calculating power of the computers of 75 000 netsurfers, this operation allowed the comparison of 550 000 proteins from the living world. Mapping was carried out and placed at the disposal of the scientific community. In 2003, the AFM launched an invitation to tender in order to support projects using this database. Four projects were accepted including one concerning X-linked adrenoleukodystrophy. At present, the Association is working on a second Décrypthon project which places powerful means of calculation at the disposal of researchers by associating university calculation centres.

The Institute of Myology: improving knowledge of the muscle
To make progress in understanding the mechanisms of neuromuscular diseases due to different lesions, the AFM supports fundamental research into the physiopathology not only of the diseased muscle, but also of the injured or aging muscle. Each year, it finances several research teams through its “fundamental myology” calls for tender. In addition, to encourage the emergence of myology as a scientific and medical discipline in its own right, the AFM created the Institute of Myology in 1997. Today, situated in the heart of the Pitié-Salpêtrière Hospital Group, this international centre of expertise of the muscle is developing an original collaboration between researchers, physicians and patients as well as a national and international teaching programme in myology. It is also a first class clinical centre with 16 trials or studies at present under way concerning – as well as neuromuscular diseases – malignant hyperthermia, multiple sclerosis etc.
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An Institute of Rare Diseases to speed up research
Objective :
The creation of this Institute marks the first coming together of patients, ministries and public organisations concerned in a common project to stimulate the development and coordinate research into rare diseases.
Its objectives are to : create new research programmes, encourage new teams to embark on research into rare diseases, promote multidisciplinary approaches, ensure optimisation and humanisation between the initiatives of different partners, optimise the use of technological platforms and encourage the development of a European and international research policy into rare diseases.
The constitutive convention of this Institute was signed on 2 April 2002 between the Ministries of Research, Health and Industry, the CNRS, Inserm, the CNAMTS, the CNAM, the Alliance for Rare Diseases and the AFM.
The Institute was granted the status of Scientific Interest Group and is based at the Platform of Rare Diseases. As well as its participation in the definition of strategies and action plans, the AFM and the Alliance for Rare Diseases contribute to the financing of certain projects.
As part of the Rare Diseases Plan, an appeal for “Rare Diseases” projects was launched in 2006 by the National Research Agency (NRA) in collaboration with the AFM and the Institute for Rare Diseases.

Means :
- NRA (National Research Agency)/ GIS-Institut des Maladies Rares calls for projects : 43 projects accepted.
- Second year of GIS-Institute for Rare Diseases calls for projects : 37 projects supported.
- Development of database management tool for rare diseases to be applied to leukodystrophies.
- Partnership with the Mouse Clinic (Strasbourg) for the development of mouse models for rare and very rare genetic diseases (34 mouse models initiated).
- Setting up of the ERDITI (European Rare Diseases Therapeutic Initiative) programme in partnership with four pharmaceutical groups so that academic teams can access molecules of therapeutic value.
- Call for tender for help in molecular screening aimed at identifying molecules for therapeutic use.
- Setting up a microdeletion sequencing platform (with the National Centre for Genotyping).

AFM funding :
1.874 million euros for the GIS programmes, of which the AFM is practically the only source of revenue. 450 000 euros for NRA calls for projects.

Prospects :
- Continuing to finance GIS programmes, and in particular the launch of a “rare diseases and genome structure anomalies” call for tender.
- Maintenance of the NRA rare diseases call for tender.

Contact :
GIS- Institute for Rare Diseases, 102 rue Didot, 75014 Paris.


Update 2007/07/25
A.F.M. - 1, rue de l´Internationale - BP 59 - 91 002 Evry cedex - Tél. : +33.1.69.47.28.28
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