Research Group on Rare Respiratory Diseases

Description

The group has a double mission: on the one hand, to contribute to research into the Rare Respiratory Diseases-RRD area in order to improve diagnosis, prognosis and access to new therapies in the RRD treatment, as well as contributing to a higher care quality for patients with these pathologies.

On the other hand, the group's mission is to raise social awareness of RRD through the scientific spreading of biomedical advances and socio-health policies aimed at improving the patients' quality of life in all its aspects. Therefore, the group's raison d'être is to generate as much knowledge as possible about the rare respiratory diseases that are a priority for the group, with the ultimate aim of helping to improve the RRD patients' quality of life.

The group is focused on studying molecular and cellular bases of RRD in depth, which will contribute to boost knowledge of the physiopathological mechanisms of these diseases. This approach will open up a field of possibilities for defining molecular targets that will be the basis for their subsequent translation into new methods of RRD diagnosis, prognosis and treatment.

Likewise, as part of the group's mission, and being aware of the importance of both patients and their families are well informed, the members are committed to collaborating, organising and spreading the characteristics and possible biomedical advances related to RRD.

The RRD research group is led by Dr Amparo Escribano, and is made up of 5 regular members: 1 Doctor of Molecular Biology and Genetics, 2 specialists in Paediatric Pneumology (1 Doctor of Paediatric Pneumology and 1 pre-doctoral fellow), 2 graduates in Biology, who are doing the Doctoral Programme with excellence mention in Physiology at the Faculty of Medicine of the UV, and a journalist.

Since 2011, the laboratory has a training welcome programme to select future members of the group. Over the next 5 years, it is expected to increase its size and modify its composition thanks to the training of three postdoctoral researchers and the incorporation of three pre-doctoral fellows.

The group is characterised by its extensive experience in basic research and RRD clinical management. It is in fact one of the few groups with these characteristics within the UV.

The members of the research group have experience in handling different techniques for biomolecular studies that not all researchers at UV may be familiar with (cell immortalization, gene therapy, etc.)

However, the greatest strength of the group is the synergy obtained from its multidisciplinary nature: on the one hand, the main researcher (Dr Escribano) brings to the group a great deal of clinical medical knowledge of respiratory pathologies, and she is renowned for her work in paediatric pneumology. On the other hand, the group's researcher (Dr Dasí) has extensive technical experience and training in basic sciences, which are essential for managing the laboratory and implementing techniques, protocols, etc. Likewise, the IP has proved to be competent to develop projects and research hypotheses, which has led to place the group above the average quality in scientific publications produced at the UV.

As for the pre-doctoral members of the group, most of them are starting their doctoral training. It is therefore a young and motivated team with a great capacity for learning and a commitment to continuity in the short and medium term. The characteristics provided by the group members are essential to guarantee the success of the objectives set by the group in a minimum period of three years.

Goals CT

Study of REDOX biology in patients with RRD.
Identification of the specific mechanisms of cell deregulation that facilitate their diagnosis/prognosis.
Development of cellular models from cells of patients with RRD which allow research into these diseases.
Gene therapy in RRD: CRISPR-Cas9 for AATD.

Research lines

Study of REDOX biology in patients with RRD
Study by means of Flow Cytometry techniques of REDOX biology in patients with Alpha-1 Antitrypsin Deficiency and Primary Ciliary Dyskinesia Syndrome.
Development of cellular models from cells of patients with RRD
Immortalisation of monocytes and hepatocytes from patients with severe AATD (ZZ). Cell cultures derived from nasal ciliated epithelium by using the Air-Liquid technique (ALI).
Identification of the specific mechanisms of cell deregulation that facilitate their diagnosis/prognosis
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.
Gene therapy in RRD
Genome editing and repair by using the CRISPR/Cas9 system and non-viral gene therapy techniques of the Z mutation of the SERPINA1 gene that encodes for the alpha-1 antitrypsin gene in monocytes and hepatocytes of patients with alpha-1 antitrypsin deficiency.

Members