The Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), depending on the Instituto de Salud Carlos III, and the CNAG collaborate in the sequencing and analysis of 116 exomes corresponding to 24 types of rare diseases or groups of pathologies. The purpose of this project is to discover new genes responsible for rare disorders of various types.

The CNAG has carried out the sequencing of the exomes, the regions of the genome that encode all the proteins in our body. The exome represents only 1% of our genome, but is where more than 85% of the mutations described in rare diseases happen. The massive sequencing of exome is a more efficient method than the traditional and exhaustive analysis of individual genes, biased by the initial hypothesis. The analysis of data provided by sequencing has identified several potentially pathogenic mutations in each patient. This discovery could open new perspectives in the diagnosis of these diseases because it is expected that the study will identify the defect responsible for the disease in at least 50% of cases.

This research is particularly important in the case of rare diseases as it is estimated that about 80% of over 6,000 rare diseases have a genetic basis. For many it has been established an explanation of what would be the specific genetic cause, but for many others this explanation does not exist or only explains part of cases. The need to determine this cause completely and accurately is obvious as it will bethe basis of a correct diagnosis and understanding of the pathophysiology.