Research and Training
MEDICAL RESEARCH AND TRAINING
In particular, we work to develop different lines of research and spread the knowledge about the disease.
Research and Training
Absolutely, we create synergies with other Research Centers, in this way, it allows us to advance faster thanks to collaboration.
Publicactions
Besides, we publish and collaborate with other professionals to advance research into this disease.
Training and Teaching
Also, we train the professionals of today and tomorrow so that our community can grow and continue to advance.
RESEARCH AND TRAINING
- WE ARE IN CONSTANT EVOLUTION
“We are committed to research”
We are a group of professionals involved in the research of Alpha 1 Antitrypsin Deficiency
Basic Research
Our mission is to determine serum alpha-1 antitrypsin concentrations using nephelometry.
In addition, we can identify the genotype of various genetic variants in dried blood spots, oral mucosal smears, or whole blood using sequencing techniques or real-time PCR.
Furthermore, we participate in networked research studies with the Carlos III Health Institute (ISCIII), the Valencia Clinical Research Institute (INCLIVA), and Progénika Biopharma (GRIFOLS Group).
Clinical Research
The Centers of Excellence in AATD in Granada, Seville, Galicia, Madrid, and Catalonia conduct clinical studies online.
Thus, together, we evaluate the impact of AATD on the quality of life of patients and their families.
We also assess the effects of treatment on disease progression.
01.
To begin, we examine the involvement of microRNAs in the regulation of the serpin-1 antitrypsin gene and their role in alpha-1 antitrypsin deficiency.
Principal Investigator: Francisco Casas Maldonado.
This multicenter study was conducted at the Carlos III Health Institute of Madrid (ISCIII).
In short, AATD is a hereditary disorder caused by mutations in the SERPINA1 gene.
Therefore, this disease exhibits a high degree of variability in clinical manifestations, suggesting that unknown genetic factors may influence disease severity.
Finally, given that microRNAs (miRNAs) are implicated in the pathogenesis of several human diseases, we investigated whether the SERPINA1 gene could be regulated by miRNAs.
Objetives
- Initially, we identified the miRNAs involved in the regulation of the AAT gene.
- In addition, we investigated the role of miRNAs as biomarkers in patients with AATD by performing expression profiling in blood and serum.
02.
In general, we focused on studying the effect of hypoxia on degranulation, cytokine production, and the oxidative profile of neutrophils in patients with alpha-1 antitrypsin deficiency (AATD).
Principal Investigator: Amparo Escribano Montaner.
Collaborating Investigator: Francisco Casas Maldonado.
Specifically, we conducted a multicenter study at the Valencia Health Research Institute (INCLIVA).
Thus, the number of neutrophils in the lungs of patients with AATD is significantly higher than in healthy individuals, which could contribute to increased proteolytic activity and hypoxia-induced inflammation, and to the development of COPD observed in some of the patients.
Objetives
- First, we determined whether hypoxia induces neutrophil activation in patients with AATD and whether intravenous AAT treatment reduces this activation.
- Subsequently, we determined whether there were differences in neutrophil degranulation, pro-inflammatory cytokine production, and reactive oxygen species (ROS) production in healthy volunteers, patients with AATD, and patients with COPD not associated with AATD under normoxic vs. hypoxic conditions.
- The next step was to analyze the differences between the various phenotypes within patients with AATD.
- Finally, we evaluated the effect of intravenous AAT therapy on neutrophil degranulation, pro-inflammatory cytokine production, and ROS production.
03.
We also analyzed parameters of oxidative stress, mitochondrial function, telomere length, and the profile of circulating miRNAs in patients with alpha-1 antitrypsin deficiency. Prognostic implications.
Principal Investigator: Francisco Dasi Fernández
Collaborating Investigator: Francisco Casas Maldonado
Specifically, this multicenter study is being conducted at the Valencia Health Research Institute (INCLIVA).
In conclusion, oxidative stress (OS) has been shown to be a factor contributing to the development of liver and lung damage in animal models of AATD.
Previous studies have shown that OS is implicated in AATD and is associated with the risk of developing lung and/or liver disease.
Objetives
- Initially, we characterized reactive oxygen species (ROS) generated in the immune system cells of patients with AATD using flow cytometry.
- After this, is to evaluate their mitochondrial function as a potential source of ROS.
- Next, we determined telomere length in patients with AATD using qPCR.
Their relationship with the severity of lung and/or liver disease was also studied. - Finally, we examined the expression profile of circulating miRNAs in patients with AATD using Affymetrix microarrays to determine their prognostic value.