SPOKE 4
Precision Diagnostics 4.0
Medicina di precisione che integra biomarcatori clinici innovativi e sistemi diagnostici di prossima generazione (micro-RNA, imaging avanzato) che consentano l’identificazione precoce e precisa delle malattie.
Spoke Leader and Expertise
Sapienza University of Rome is recognized for its strong expertise in precision diagnostics, the clinical validation of molecular biomarkers, and the development of advanced imaging technologies. Within the framework of precision medicine, the University integrates clinical, biological, and technological expertise to improve the ability to identify diseases at an early stage, monitor their progression over time, and support personalized therapeutic decisions.
Partners
- IRCCS Azienda Ospedaliero-Universitaria di Bologna S. Orsola
- Università degli Studi di Roma Tor Vergata
- Alma Mater Studiorum Università di Bologna
- Università degli Studi di Cagliari
- Università degli Studi di Catania
- Università degli Studi di Foggia
- Università degli Studi di Milano-Bicocca
- Università degli Studi di Modena e Reggio Emilia
- Università degli Studi di Palermo
- Università di Pisa
- Università Politecnica delle Marche
- Università degli Studi di Verona
Scientific Coordinator
Prof. Andrea Isidori
Mission
The mission of the thematic network (Spoke 4) is to make diagnosis a dynamic and personalized process, capable of integrating molecular, clinical, and instrumental information. In precision medicine, diagnosis is no longer an isolated act, but a continuous pathway that accompanies the patient, supporting more targeted and timely therapeutic decisions.
Objectives
- Anticipate the diagnosis of complex diseases.
- Improve the accuracy and reliability of diagnostic tools.
- Support disease monitoring over time.
- Integrate diagnostics with therapeutic personalization.
Activities
The activities of Spoke 4 focus on the identification and validation of molecular biomarkers, such as microRNAs and circulating proteins, capable of indicating the presence of disease at an early stage or providing prognostic information. These biomarkers are integrated with advanced imaging techniques to obtain a comprehensive view of the disease state.
A key area of activity concerns radiomics, that is, the extraction of quantitative information from medical images, which is useful for identifying patterns associated with disease progression and response to treatments. The Spoke also develops integrated diagnostic-therapeutic care pathways, that is, structured protocols that guide clinicians in selecting the most appropriate tests and clinical interventions.
Areas of work
Optimization of early diagnosis pathways through minimally invasive and advanced tools (M1–M30)
- Integrated bioimaging for the early diagnosis of oncological and polygenic diseases
- Intelligent software and robotic systems for biopsy planning and decision support
- Innovative techniques for precision diagnostics: from beta tracers to real-time optical biopsy
Advanced biological analyses for the diagnosis and monitoring of monogenic, polygenic, and oncological diseases (M4–M34)
- Alternative matrices for the biological monitoring of inorganic lead and tumors
- Molecular profiling of circulating nucleic acids through liquid biopsy
- Multi-omics approach supported by multi-level artificial intelligence tools
Digital pathology: standardization of image acquisition and analysis for AI-based solutions (M4–M32)
- Digital collection and acquisition of histopathological samples using dedicated scanners
- Definition of specific histopathological panels for diagnosis and prognostic stratification
- Computer-assisted pathological evaluation (Computer-Driven Pathology Assessment)
Application and validation of computational profiles based on the Network Medicine approach (M10–36)
- Validation of network-based tools for the integration of omics, clinical, and imaging data
- Testing of interpretable analytical models for risk stratification and recurrence prediction
- Network analysis–based algorithms for defining new screening pathways and early diagnosis
Projects Funded through Cascade Calls
ALT-CAN
Improving diagnosis and therapy response monitoring of cancers with activated telomere maintenance mechanisms using genetically defined organoids and animal models
The project aims to enhance the diagnosis and monitoring of tumors by using genetically defined organoids and animal models to activate telomere maintenance mechanisms (TMM) and improve the effectiveness of personalized oncological treatments.
APUFF
Apulian Precision Unit For Future
The A.P.U.F.F. project arises from the synergistic collaboration between a leading company in breath analysis and a local healthcare provider to conduct a large-scale experimental study aimed at validating and optimizing an innovative breath test. The initiative seeks to transform the early diagnosis and monitoring of colorectal cancer (CRC) and lung cancer (LC) into non-invasive and timely processes, integrating the technological excellence of the lead partner with the operational capacity of the healthcare partner to make volatile biomarker screening an accessible and accurate clinical standard.
iMPACT
An Integrative diagnostic model to automatically detect clinical and molecular profile of PCSK9 inhibitors effects in patients with severe dyslipidemia and coronary heart disease
The iMPACT project aims to leverage a multidisciplinary and multilevel approach, integrating clinical and molecular expertise to characterize the profile of patients with acute coronary syndrome (ACS) treated with PCSK9 inhibitors. Through the identification of specific molecular markers—such as cytokines, miRNAs, and exosomes—the research seeks to distinguish responders from non-responders, leading to the creation of a combined database and an integrated diagnostic tool to be validated on real-world cases. Beyond transforming clinical management through treatment personalization and targeted follow-up for patients with insufficient response, the developed theoretical model will support pharmacoeconomic policies, enabling a more efficient allocation of resources based on accurate and scientifically grounded population stratification.
HEARTZING
Assessing causal heterogenous biomarkers mapping of HFpEF patients for early diagnostic and risk stratification
The project aims to redefine the understanding of heart failure with preserved ejection fraction (HFpEF) by integrating advanced diagnostics with the study of underlying cellular mechanisms. The initiative primarily focuses on the development of an artificial intelligence–based tool for deep patient phenotyping, which combines clinical, imaging, and biomarker data with novel biological information to overcome current technological limitations and refine classification into phenogroups for precision diagnostics. At the same time, the research seeks to determine whether associated comorbidities induce lasting alterations in cardiomyocytes, providing a crucial perspective for precision therapeutic medicine and establishing whether cellular characterization is an essential requirement for tailored clinical management of patients.
