Emphysema due to Alpha1-Antitrypsin (AAT) deficiency is the most common congenital adulthood respiratory disease. It confers an increased risk of developing emphysema even at early ages.
Its status as a minority disease creates the need to concentrate detected cases to generate knowledge about the disease, mechanisms research possibilities and new therapies.
In Catalonia, Vall d’Hebron University Hospital initiated the treatment of this condition and was a pioneer in developing a program of detection and therapy.
In January 2014 the center of excellence in research AATD was created, this center is integrated in the Pneumology Department and coordinated by Dr. Miravitlles; a multidisciplinary team provides services to AAT deficiency patients and their families, including both clinical and biochemical diagnosis, which allows the characterization of possible genetic variants of AAT. The main objective of the center is to promote research and training in AAT.
Omics sciences in the evolution of Chronic Obstructive Pulmonary Disease (COPD) caused by deficiency of Alpha-1 Antitrypsin (AAT): towards personalized medicine.
An analysis of the transcriptome to identify whether there differentially expressed genes (DEG) in patients with AAT deficiency (PiZZ) with a worse clinical outcome (decline faster in lung function, FEV1%) compared to the AAT patients (PiZZ) having a more stable disease evolution. Analyze the expression of microRNA and its relationship with the expression of RNA and identify biological pathways that may explain the progression and pathogenesis of AAT (PiZZ).
Detection of circulating Alpha-1 Antitrypsin polymers and their relationship to the development of EPOC
Analyze polymer concentrations of circulating serum AAT in individuals with EPOC carriers of the most common genotypes in the Spanish population (MM, MS, SS, MZ, SZ and ZZ) and MM controls without COPD.
Analyze the impact of circulating concentrations AAT polymers in disease severity.
Improved diagnostic algorithm Alpha-1 Antitrypsin from samples obtained in routine laboratory and medical consultation
Use of buccal swabs as a new option sample for genotyping of AAT. To do this, is to tune the genotyping technique for variants S, Z and Mmalton and genotyping technique by sequencing the coding exons of the AAT gene allele-specific.
Design of PCR technique can amplify and sequence the coding exons of the gene AAT content from serum DNA.
Grant of the Catalan Foundation of Pneumology (FUCAP 2014)
Rapid detection of Mmalton allele of Alpha-1 Antitrypsin by real-time polymerase chain reaction (PCR) and sequencing.
Grant of the Catalan Foundation of Pneumology (FUCAP 2013)
Deficiency of Alpha-1 Antitrypsin deficiency: identification of limits in the diagnosis and monitoring in Catalonia.
Grant from the Spanish Society of Pneumology and Thoracic Surgery (SEPAR 2013)
Alpha-1 Antitrypsin deficiency: identifying limitations in the diagnosis and monitoring in Catalonia.
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