An exome is the ensemble of functional genes in an organism, or 1.5% of the genome in humans. It is of crucial interest to research on rare genetic diseases [1]: the comparison of exomes from healthy and sick people could identify mutations that are responsible for 80% of these diseases of genetic origin.

With this objective, the CEA-IG-CNG sequenced 400 exomes that concern myopathies, metabolic and mitochondrial diseases, retinitis pigmentosa, certain forms of hereditary neuropathies, and congenital kidney diseases. The sequences were then sent to 22 research teams working on this national project (Inserm, APHP, provincial hospitals ...) in order to identify causal mutations. The heterogeneity of rare diseases such as cancer and autoimmune, infectious, and neuromuscular diseases (whose numbers are estimated at 7,000) indeed requires a multidisciplinary approach that combines scientific expertise and medical skills. These diseases affect more than 3 million people in France, and are for the most part serious and disabling.

[1] A disease is considered rare when it affects less than one person in 2,000.