Grupo de investigación en Enfermedades Raras Respiratorias (ERR)

Responsable de la Unidad de Investigación:

Presentación de la unidad de investigación

The Group’s scientific interests, coordinated by Dr. Dasí, are focused on deepening the investigation of the molecular and cellular basis of ERRs, which will contribute to broadening the knowledge of the pathophysiological mechanisms of these diseases. This approach will open up a field of possibilities for defining new molecular targets that will be the basis for subsequent translation to new methods of diagnosis, prognosis, and treatment of these diseases. One of the main objectives is the discovery and development of new diagnostic and prognostic biomarkers in biological fluids. As these samples require minimally invasive extraction methods, they can be easily automated and implemented in hospitals and will, therefore, be of great interest to biotechnology and pharmaceutical companies. On the other hand, the group is particularly interested in establishing and developing gene therapy techniques, intending to transfer their results relatively quickly to clinical practice. Also, as part of the group’s mission and aware of the importance of keeping patients and their families well informed, the members are committed to collaborating, organizing, and disseminating the characteristics and possible biomedical advances related to RRD. Currently, the group maintains active basic research in two RRDs: alpha-1 antitrypsin deficiency (AATD) and primary ciliary dyskinesia (PCD) and clinical research in Cystic Fibrosis (CF). The specific actions of the group are: i) To characterize the molecular mechanisms (especially those aspects related to REDOX regulation) involved in the development of disease in patients with AATD and PCD. ii) To evaluate the diagnostic and/or prognostic value of circulating nucleic acids in plasma/serum. Development of cellular models from cells of patients with RRD, allowing research in these diseases: Immortalization of monocytes and hepatocytes from patients with severe AATD (ZZ genotype) and ciliated nasal epithelial cells from patients with RRD. iii) To develop new therapeutic strategies based on gene therapy. iv) To generate social awareness of RRDs through scientific dissemination of biomedical advances and social-health policies to improve patients’ quality of life.

Métricas

Producción Científica

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Evolución de publicaciones por Cuartiles

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Factor de Impacto y Citas Totales

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Campos de Estudio

Colaboraciones internacionales

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