AFM - Rare Diseases - Strategy :

Although you may not think so, rare diseases and genetic diseases affect us all. They affect between 4 and 6 % of the population, with 3 million people in France and between 25 and 30 million in Europe. 80% of these diseases are genetic. Since the 1^st Téléthon, AFM has continued its battle in the firm belief that only by pooling resources will significant results be achieved. This explains why AFM chose to go beyond the field of neuromuscular diseases (which are all rare diseases), by setting up a rewarding strategy benefitting genetic diseases, rare diseases and even more common diseases.
While the 6,000 to 7,000 rare diseases are highly specific, they all share one common feature: patients are affected by a lack of curative treatment, diagnosis and treatment difficulties, and social exclusion.
A cross-cutting and comprehensive approach is vital should efficient policies be implemented in terms of research, drug development, information and patient care.

• The publication of human genome maps, which were produced by the Téléthon-funded Généthon laboratory, enabled AFM to help speed up the discovery of the genes responsible for the diseases, ensuring France’s position at the forefront of genetic research.

• The impetus given by AFM has put the spotlight on rare diseases, making them a prime public health concern. Its action has resulted in the introduction of two French national plans and the adoption of a European regulation on orphan drugs, which paved the way for over 50 orphan drugs being brought to market.
AFM has also created the Rare Diseases Platform which brings together the key players in rare diseases (Alliance Maladies Rares – Eurordis –Maladies rares info services – Orphanet – GIS-Institut des Maladies Rares), forming a unique resource centre, considered in Europe as being the highly acclaimed French model.

• Through its advocacy actions, AFM has contributed to the adoption of new rights for people with disabilities (right to compensation, right to education).

• AFM has created three research centres at the cutting edge of their field: the Généthon laboratory is today a pharmaceutical structure, producing its first batches of gene therapy drugs for rare diseases, the Myologie Institute is a unique European centre of expertise in the field of muscles, and I-Stem is a leading laboratory in the field of stem cells.

• The recent first successes (immune deficiencies, adrenoleukodystrophy) clearly show that AFM was right to invest so much into new therapies which provide the medical sector with new tools to fight all diseases.

• Today, AFM is supporting trials on 30 different diseases (neuromuscular or neurological diseases, diseases of the blood, eyes, skin and immune system). Innovative treatments used to help cure these diseases pave the way for tomorrow’s medicine, as research into rare diseases is intrinsically linked with medical innovation for the general good of mankind.