The Medicine Track is devised to recruit Medical Doctors with an interest in mechanistic research on human diseases and basic scientists interested in the opportunity to work on translational projects on human diseases that span from bench to bedside. Disciplines represented in the program are Cardiology, Hematology, Pathology and Pediatrics.

Cardiology

The Cardiology area is dedicated to the understanding of the molecular basis of inherited cardiomyopathies and inherited arrhythmias. The program includes both clinical and fundamental research.

Research Topics

Clinical Research: The clinical research team is based at the Molecular Cardiology Unit of the Istituti Clinici Scientifici Maugeri where there is a Clinical Unit dedicated to the diagnosis and management of patients with inherited cardiomyopathies and inherited arrhythmias. A large molecular diagnostic laboratory is part of the Unit and it performs genetic screening of affected patients. An annotated DNA repository (50000 samples) is linked to a large data base that contains clinical data of patients. Research is dedicated to the study of epidemiology of inherited diseases, risk stratification strategies, genotype phenotype investigations, clinical testing of novel drugs and cardiac imaging investigations. Training in statistics, research methodology, clinical diagnostic methods and interpretation of genetic analysis are part of the learning objectives.

Fundamental Research: Bench-research is focused on the development of gene-therapy strategies that are tested in cellular models and in animal models. Mechanistic studies dedicated to the understanding of pathophysiology of inherited cardiac diseases are also conducted. The Laboratory is part of the Molecular Cardiology Unit of the Istituti Clinici Scientifici Maugeri, it has access to a biosafety area Level 2 where viral vectors can be safely used. Training in cellular electrophysiology, molecular biology, microscopy, genomic and proteomic are part of the learning objectives.

Research group: Silvia G. Priori, Rossana Bongianino, Stella Siciliani, Andrea Mazzanti, Carlo Napolitano, Deni Kukavica, Alessandro Trancuccio, Marco Denegri, Mirella Memmi, Barbara Colombi, Jannì Nastoli, Patrick Gambelli

https://www.dropbox.com/s/e31jaie4fo5es0y/Silvia%20Priori%20FINAL%20V2-2.mp4?dl=0

https://www.dropbox.com/s/fr4ys8xid4f4hmc/Silvia%20Priori%202_6dg.mp4?dl=0

Pediatrics

The Pediatric Area is dedicated to the understanding of the immunopathological bases of diseases in childhood. The program includes both clinical research and fundamental research.

Research Topics

Clinical Research: The clinical research team is based at the Pediatric Clinic of the Fondazione IRCCS Policlinico San Matteo. Clinical research focuses on immune-mediated disorders, including pediatric allergic and autoimmune diseases, primary immunodeficiencies, and infectious diseases. Moreover, clinical research is developed in the context of pediatric gastroenterology, endocrinology, and neurology. Pediatric clinical research is dedicated to the study of the clinical features of diseases in childhood with the aim of better characterizing these conditions, allowing to identify the specific characteristics compared to adults and develop targeted therapeutic approaches. In the current pandemic era, the clinical research team is also actively studying the clinical manifestations and the long-term outcomes of pediatric COVID-19 and the multisystem inflammatory syndrome in children (MIS-C), a rare but severe complication of SARS-CoV-2 infection in children.
Training in statistics, research methodology, and clinical diagnostic methods are part of the learning objectives.

Fundamental Research: Bench research focuses on studying the immunopathological bases of diseases in childhood. Through a translational approach, the immune-mediated disorders that are clinically characterized are also studied in the Laboratory with a “bench-to-bedside-and-back” approach. The characterization of the biomarkers of diseases represents one of the main focuses of our Team. Moreover, our Research Unit has recently joined an international effort led by the National Institutes of Health (NIH) in Bethesda (USA) to dissect the immunopathological bases of pediatric COVID-19 and MIS-C. The Laboratory is part of the Pediatric Clinic of the Fondazione IRCCS Policlinico San Matteo. Training in molecular biology, microscopy, genomic and proteomic is part of the learning objectives.

Research group: Gian Luigi Marseglia, Amelia Licari, Daniela Montagna, Riccardo Castagnoli, Martina Votto

Hematology

The Hematology track is mainly focused on the definition of the molecular basis of myeloid neoplasms (myelodysplastic syndromes, myelodysplastic/myeloproliferative neoplasms, acute myeloid leukemia, myeloproliferative neoplasms), and its clinical implications; on the clinical and molecular characterization of pre-malignant conditions with increased risk of developing myeloid neopasms and the recognition of the mechanisms of progression to neoplasm; on the dentification of germ line mutations associated with predisposition to myeloid malignancies and of patterns of somatic mutations driving malignant transformation; on the development of integrated genomic DNA/RNA profiling of myeloid malignancies in the diagnostic setting, as well as the development of genomic classification and prognostic models.

Research Topics

Dissecting the clonal architecture of myeloid neuplasms with myelodysplasia and effect of age-related and germline predisposition, as a basis for precision medicine strategies.

Clinical Research: Clinical significance of somatic mutation in acquired bone marrow failure syndromes; Molecular and clinical characterization of pre-malignant conditions associated with ineffective hematopoiesis, inflammation and increased risk of evolution into myeloid neoplasms; Identification of potential molecular targets and development of innovative therapeutic strategies in myeloid neoplasms with splicing factor mutations; Genomic classification and prognosis in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.

Fundamental Research: Genetic basis of myeloid neoplasms and its clinical implications; Mechanisms of clonal evolution from age-related clonal hematopoiesis to myeloid neoplasm; Myeloid neoplasms with germ line predisposition: identification of germ line mutations and patterns of somatic mutations driving clonal progression; Molecular mechanisms of leukemic evolution in myeloid neoplasms; Molecular and functional characterization of bone marrow microenvironment in clonal hematopoiesis and myeloid neoplasms.

Research group: Luca Malcovati, Anna Gallì, Elisabetta Molteni, Chiara Elena, Elisa Bono, Sara Pozzi, Martina Sarchi, Gabriele Todisco

Pathology

Research Topics

Lymphomagenesis mechanisms, with special reference to etiopathogenetic role of viral infections (e.g. HCV) and immunodeficiency-related conditions; Molecular basis of extranodal lymphomas and its clinical implications; Immunophenotypical characterization and molecular basis of gastrointestinal carcinomas and carcinomas associated with celiac disease; Molecular and clinical characterization of gastrointestinal carcinomas associated with Epstein-Barr virus infection; Molecular and clinical characterization of head and neck epithelial neoplasms associated with Human Papilloma Virus (HPV) infection.
Methods: immunohistochemistry, gene sequencing, methylation analysis; DNA microsatellite instability analysis; clonality analysis; fluorescent in-situ hybridization (FISH); in-situ hybridization (ISH) for Epstein-Barr virus-encoded small RNAs (EBER), virus genotyping (Human Papilloma Viruses).

Research group: Marco Paulli, Patrizia Morbini, Alessandro Vanoli