Malattie rare polmonari ed epidemiologia delle malattie respiratorie croniche - Gruppo di Ricerca

• Development and validation of diagnostic strategies for alpha1-antitrypsin deficiency (AATD). Study of the pathogenetic mechanisms of AAT variants and their clinical impact. Clinical and prognostic aspects of lung and/or liver pathology resulting from AATD: analysis of the Italian (RIDA1) and international (EARCO) Registry.
• Study of the genetic factors responsible for surfactant abnormalities and the outcome of whole lung lavage in Pulmonary Alveolar Proteinosis (PAP). Analysis of risk factors for severe PAP complications.
• Development of innovative strategies for local (endothoracic) drug delivery against pleural mesothelioma based on the use of biological vectors (mesenchymal stromal cells) and identification of gene variants associated with disease susceptibility as a consequence of  exposure to asbestos.
• Participation in epidemiological studies of chronic respiratory diseases using national and supranational registers (ECRHS, GEIRD, SANI, MANI, ALEC, EMBARC, IRENE).
• Investigation of the role of genetic factors in fibrotic lung diseases, in particular IPF.  Evaluation and study of the risk factors shared by IPF and lung cancer.

• Trapnell BC, Inoue Y, Bonella F, Morgan C, Jouneau S, Bendstrup E, Campo I, et al; IMPALA Trial Investigators. Inhaled Molgramostim Therapy in Autoimmune Pulmonary Alveolar Proteinosis. N Engl J Med. 2020;383(17):1635-1644.
• Marcon A, Locatelli F, Dharmage SC, Svanes C, Heinrich J, Leynaert B, Burney P, Corsico A, et al. Ageing Lungs in European Cohorts (ALEC) study. The coexistence of asthma and COPD: risk factors, clinical history and lung function trajectories. Eur Respir J. 2021;58(5):2004656. 
• Stella GM, Marchiò C, Bari E, Ferrarotti I, Bertuccio FR, Di Gennaro A, Abbott DM, Putignano P, Campo I, Torre ML, Corsico AG. The Genes-Stemness-Secretome Interplay in Malignant Pleural Mesothelioma: Molecular Dynamics and Clinical Hints. Int J Mol Sci. 2023;24(4):3496.
• Verleden SE, Tanabe N, McDonough JE, Vasilescu DM, Xu F, Wuyts WA, Piloni D, et al. Small airways pathology in idiopathic pulmonary fibrosis: a retrospective cohort study. Lancet Respir Med. 2020;8(6):573-584. 
• Ottaviani S, Bartoli G, Carroll TP, Gangemi F, Balderacchi AM, Barzon V, Corino A, Piloni D, McElvaney NG,  Corsico AG, Irving J, Fra AM, Ferrarotti I. Comprehensive clinical diagnostic pipelines reveal new variants in alpha-1-antitrypsin deficiency. Am J Respir Cell Mol Biol, in press.

Lab of Biochemistry and Genetics of Respiratory Disease is equipped with a Quantifluor ONE dsDNA system (Promega), three thermal cyclers (Applied Biosystem and Biorad), a real time system (LC480, Roche), two sequencers (Beckman, CEQ 8800 and Illumina, iSeq 100 Sequencing System), an automatic liquidhand (Freedomevo 75, Tecan), an automated Nucleic Acid and Protein Purification system (Qiacube, Quiagen), an ELISA reader (BIORAD), an electrophoretic analyzer (Hydrasys Focusing, SEBIA), a xMAP analyzer (Luninex 200). In the laboratory are also available several refrigerators and freezers (-20 °C and -80 °C), chemical and laminar flow hood, a microtome (RM2245 Leica), two optical microscope (Zeissand Olympus) and one Olympus BX41 fluorescent microscope.

Unrestricted grant (Grifols, CSL Behring); Fondazione IRCCS Policlinico San Matteo-Ricerca Corrente, grant number 962-rcr2019i2-13 (PI Campo) e 1001-rcr2022-13 (PI Stella); fondi regionali mesotelioma (Plagencell), Phase I study: (n. 1 ongoing) (Paclimes-trial); interventional clinical trials  (n. 11 ongoing); profit observational studies (n. 4 ongoing).

Ruhrlandklinik, University Hospital, Department of Pneumology, Essen, Germany; University of Munich, Childrens Hospital, Germany; Cincinnati Children’s Hospital Medical Center, USA; UCD School of Medicine, Education and Research Centre, St. Vincent’s University Hospital, Dublin, Ireland; Clinical Physiology and Nuclear Medicine SUS, Malmö, Sweden; RCSI Education & Research Centre, Beaumont Hospital, Beaumont, Dublin, Ireland Imperial College London, UK; Department of Pulmonology, Leiden University Medical Center, Leiden, The Netherlands; Department of Pulmonology, University Hospital Vall d’Hebron, Vall, Spain.