In the early 90s, AFM realised that targeting larger disease groups, helped make advances in the knowledge of neuromuscular diseases. Généthon became the spearhead of this policy when it published the first maps of the human genome in 1992 and contributed, until 1996, to the discovery of the genetic origin of several thousands of rare or more common diseases.

Since 1990, AFM has also organised DNA sampling campaigns of vital importance for all genetic research. It has thus contributed to the creation and the funding of 14 biobanks. Since 1996, it has been managing a Tissue Bank for Research (Banque de Tissus pour la Recherche, BTR) for the collect, storage and distribution of tissue samples for research groups who work on rare diseases.

The new therapies developed by the AFM thanks to Téléthon donations are today being tested on so-called “model” diseases, most of which are rare. As they are the first natural candidates for treatment, a quick and effective proof of concept of a therapy is made. Once over this stage, the therapeutic pathway tested can be applied to other (rare or frequent) diseases linked to the same physiological logic.
Thus, certain therapeutic pathways that have been developed can be applied to non-genetic diseases concerning the whole of the population. Some striking examples are:
- the transplantation of stem cells initially used for treating the heart of neuromuscular patients has been tested for the treatment of heart attack, a frequent health problem.
- the pharmacological treatment of progeria (a rare disease characterised by accelerated ageing) which affects 10 children in Europe could have effects on the problems linked to normal ageing, affecting the whole of the world’s population.
- the gene therapy of Leber Congenital Amaurosis, a rare hereditary pigmentary retinitis could lead to the treatment of Age-linked Macular Degeneration (ALMD) qui concerns 20% of the ageing population.
- the development of gene therapy for central nervous system diseases could benefit such frequent diseases as Parkinson’s or Alzheimer’s disease, which affect several million people in the world.

Apart from financing therapeutic trials into “model” rare diseases, the AFM supports the Institute for Rare Diseases, a Scientific Interest Group which it helped to create in 2002 and of which it is a the principal financer. In particular, the Association has taken part in joint calls for tender concerning rare diseases, launched with the National Research Agency. Among the projects selected and financed by the Rare Diseases SIG, were programmes related to Crigler-Najjar disease, WAS immunodeficiency, Duchenne myopathy, congenital myasthenic syndromes and dysferlinopathies. Furthermore, about fifteen projects for the creation of transgenic mice have been supported in partnership with the Mouse Clinic in Strasbourg.
Concerning rare diseases whose cause is still unknown, the AFM has set up a “High-resolution gene dosage” transversal action plan in collaboration with the National Genotyping Centre (NGC) of Génopole. The aim of this programme is to identify more rapidly micromutations that are difficult to detect.

Finally, in 2007 the AFM became one of the founder members of the Imagine Foundation. This was created at the Necker Hospital to encourage bridge-building between research and care with the aim of improving the diagnosis and treatment of children affected with genetic diseases.