Physiopathology and therapy of adult rare and chronic inflammatory diseases
- 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.
- Deciphering of mechanisms of lung cancer progression and cancer cell fate with main focus on the impact of blood rheology and cell-vascular wall interaction through the development of a translational platform integrated with clinical data and bioengineered models.
- Evalutaion of the impact of a high-intensity exercise program on the respiratory functional performances and the quality of life after lung resection for early-stage lung cancer
- Trapnell BC, Inoue Y, Bonella F, Wang T, McCarthy C, Arai T, Akasaka K, Mariani F, Mogulkoc N, Song JW, Baba T, Jouneau S, Numakura T, Öcal N, Mihaltan F, Ataya A, Bendstrup E, Campo I, Carey B, Arena R, Robinson B, Fleming R, Wasfi Y, Pratt R; IMPALA-2 Trial Investigators. Phase 3 Trial of Inhaled Molgramostim in Autoimmune Pulmonary Alveolar Proteinosis. N Engl J Med. 2025 Aug 21;393(8):764-773;
- McCarthy C, Bonella F, O'Callaghan M, Dupin C, Alfaro T, Fally M, Borie R, Campo I, Cottin V, Fabre A, Griese M, Hadchouel A, Jouneau S, Kokosi M, Manali E, Prosch H, Trapnell B, Veltkamp M, Wang T, Toews I, Mathioudakis A, Bendstrup E. European Respiratory Society guidelines for the Diagnosis and Management of Pulmonary Alveolar Proteinosis. Eur Respir J. 2024 Nov 14;64(5):2400725;
- Tondo P, Meschi C, Mantero M, Scioscia G, Siciliano M, Bradicich M, Stella GM; Italian Respiratory Society (SIP/IRS) TF on Gender Medicine. Sex and gender differences during the lung lifespan: unveiling a pivotal impact. Eur Respir Rev. 2025 Feb 19;34(175):240121. doi: 10.1183/16000617.0121-2024
- Verleden S.E., Tanabe N., McDonough J.E., Vasilescu D.M., Xu F., Wuyts W.A., Piloni D. et al. Small airways pathology in idiopathic pulmonary fibrosis: a retrospective cohort study. The Lancet Respiratory Medicine, 2020;
- Ferrarotti I, Piloni D, Filosa A, Ottaviani S, Barzon V, Balderacchi AM, Corda L, Seebacher C, Magni S, Mariani F, Baderna P, Confalonieri P, Iannacci L, Mancinelli S, Putignano P, Albera C, Stella GM, Monti MC, Corsico AG. Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes. Pulmonology. 2025 Dec 31;31(1):2429911. doi: 10.1080/25310429.2024.2429911. Epub 2024 Dec 3. PMID: 39624947
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 1095-rcr2025-13 (PI Vertui) e 1001-rcr2022-13 (PI Stella) and 5x1000 - 2021 - cod. 090000X122 - project 080758253 (PI Ottaviani)
- Research Grant for Investigator Sponsored Research (ISR) study (Grifols)
- PRIN F53D23006600006 (PI Corsico) e PRIN PNRR - F53D23011720001 (co-PI Corsico)
- Progetto Plagencell, Phase I: (n. 1 ongoing) (Paclimes-trial)
- Interventional clinical trials (n. 23 ongoing)
National:
- INT-farmacologia molecolare (Perego P);
- IRCCS Candiolo Cancer Inst-Stem Cell Lab (Boccaccio C.);
- Università della Campania Dipartimento di Scienze Mediche Traslazionali (Bianco A.);
- Università di Brescia, Dip. Medicina Molecolare;
- Università del Piemonte Orientale, Dip. Scienze farmaceutiche;
- Azienda Ospedaliero Universitaria Careggi, Firenze;
- Department of Industrial and Information Engineering, University of Pavia Via Adolfo Ferrata 5, 27100 Pavia, (IT);
- Centro interdipartimentale di ricerca nelle attività motorie e sportive (CRIAMS), Università of Pavia.
International:
- 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
- University of Glasgow, Prof Kevin Blyth (PREDICT Meso network)
- University of Kentucky, Interventional Pulmonary (Hadid W)
Dott.ssa Conio Valentina
Dott.ssa Mariani Francesca
Dott.ssa Ronzoni Vanessa
Dott.ssa Saracino Laura
Dott. Sovardi Fabio
Dott. Pagella Fabio Giuseppe
Prof. Piloni Davide
Dott.ssa Ferrarotti Ilaria
Prof.ssa Stella Giulia Maria
Dott.ssa Vertui Valentina
OTHER MEMBERS:
Alice Maria Balderacchi, Ilaria Campo, Stefania Ottaviani, Federica Albicini, Erica Gini, Amelia Grosso, Domenica Federica Briganti, Sara Lettieri, Giacomo Bonizzoni.
Ultimo aggiornamento: 11/12/2025