Gruppi di Ricerca

Advanced Diagnostics and Care for Inherited Human Diseases - Gruppo di Ricerca

REFERENTE - GROUP LEADER

Prof.ssa ARBUSTINI Eloisa

CURRICULUM VITAE REFERENTE

CV Prof.

GROUP MEMBERS

Eloisa Arbustini, Maurizia Grasso, Alessandra Serio, Alessandro Di Toro, Alessia Cattaeneo, Alexandra Smirnova, Andrea Pilotto, Annamaria Tripi, Antonio Tescari, Carmela Giorgianni, Chiara Barbaglia, Chiara Paganini, Claudia Cavaliere, Davide Bondavalli, Edward Buccieri, Francesca Sessa, Giorgia Pizzo, Lorenzo Paolo Giuliani, Maria Chiara Mimmi, Marilena Tagliani, Mario Urtis, Monica Concardi, Viviana Vilardo.

PUBLICATIONS OF THE RESEARCH GROUP

RESEARCH PROJECTS

The scientific and clinical activities focus on a) advanced diagnostics and care for human genetic diseases, including non-syndromic cardiovascular diseases, syndromic disorders with cardiovascular involvement, and hereditary cancer syndromes; b) acute and chronic allogeneic reactions and opportunistic infections of grafts in solid organ transplantation (heart and lung); b) acute and chronic allogenic reactions and opportunistic infections of the grafts in solid organ transplantation (heart & lung).

On a methodological and organizational level, the center adopts a multidisciplinary participatory integration, where diverse professional skills converge toward common objectives. Clinically, the vision is patient- and family-centered, offering advanced diagnostics and continuous care for all family members affected by genetic diseases (Figure).

The Center actively participates in the EU networks ERN-GUARD and VASC-ERN and in the National RETE IRCCS CARDIOVASCOLARE.
5 BEST PAPERS
- Arbustini E, Di Toro A, Thum T, Urtis M, Waltenberger J, Elliott P. Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics. Eur Heart J. 2022 May 21;43(20):1901-1916.
- Di Toro A, Urtis M, Narula N, Giuliani L, Grasso M, Pasotti M, Pellegrini C, Serio A, Pilotto A, Antoniazzi E, Rampino T, Magrassi L, Valentini A, Cavallini A, Scelsi L, Ghio S, Abelli M, Olivotto I, Porcu M, Gavazzi A, Kodama T, Arbustini E. Impediments to Heart Transplantation in Adults With MELASMT-TL1:m.3243A>G Cardiomyopathy. J Am Coll Cardiol. 2022 Oct 11;80(15):1431-1443.
- Giuliani L, Di Toro A, Urtis M, Narula N, Grasso M, Serio A, Pilotto A, Fergnani V, … , Arbustini E. Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies. J Am Coll Cardiol. 2023 Mar 14;81(10):979-991.
- Arbelo E, Protonotarios A, Gimeno JR, Arbustini E , Kaski JP; ESC Scientific Document Group. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023 Oct 1;44(37):3503-3626.
- Elliott P, Schunkert H, Di Toro A, Thum T, Kääb S, Urtis M, Arbustini E. Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics. Eur Heart J. 2025 Jan 21;46(4):344-353.
AVAILABLE TECHNOLOGY

The center comprises a clinical outpatient service, a molecular genetic laboratory, an advanced pathology laboratory, and a Bioinformatics and Data Analysis laboratory. These facilities are fully equipped with advanced technologies for non-invasive ultrasound-based imaging for the clinical activities and for omics sciences—genomics, transcriptomics, proteomics, and metabolomics—to develop, integrate, and translate diagnostic innovations into clinical practice, with the aim of achieving precise diagnoses and enabling personalized treatment strategies. The Bioinformatics and Data Analysis laboratory is also equipped with tools for omics data analysis, AI-assisted cardiovascular imaging, and digital pathology.
RUNNING FUNDS

European Commission, Italian Ministry of University and Research, Italian Ministry of Health, AXA Research Fund, Fondazione Cariplo.
NATIONAL AND INTERNATIONAL STRATEGIC COLLABORATIONS

Italian Institute of Health, Italian Society of Public Health, European Public Health Association, London School of Hygiene and Tropical Medicine, Harvard School of Public Health.