BIOMICs Research Group

Cystic fibrosis (CF) is the most common autosomal recessive lethal rare disease, with an estimated incidence of 1 in 5000 live births. About 2,000 mutations of the CFTR gene have been identified nowadays, been F508del the most frequent mutation. Taking the wide mutation diversity into account, the wide range of phenotypic variation in CF is not surprising, but this variety is not only due to CFTR gene mutations but also due to a set of disease modifying genes (CF modifier genes) which play an important role on the disease.

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In   view of the importance that CF modifier genes have in rare disorders, the aim of this research group is to amplify the knowledge of a certain set of CF modifier genes, in order to contribute to establish personalized therapies and new therapeutic targets to improve CF patient quality life and delay the progression of the disease.