RRDs are very complex and are associated with alterations in multiple metabolic pathways. An important aspect for the RRD diagnosis, prognosis and treatment is to identify the aberrant changes that may occur in these metabolic pathways and to elucidate their connection with  the disease. In this regard, we will use high performance trials such as microarrays and mass sequencing for the analysis of biological samples from patients with alpha-1 antitrypsin deficiency and primary ciliary dyskinesia syndrome in order to identify possible metabolic pathways involved in the development of these diseases, and with the aim, in turn, of identifying new diagnostic and prognostic biomarkers (including treatment response) and of identifying new therapeutic targets.

prognosis, diagnosis, cellular

• Biochemical research methods