The first PhD program in Precision Medicine, covering the academic years 2023-2024, demonstrates an overall positive and well-structured trajectory, with a range of projects addressing key topics for the future of personalized medicine.
The PhD students have shown a solid ability to translate theoretical knowledge into practical applications through innovative approaches and advanced methodologies, such as long-read sequencing (LRS), multi-omic analysis, and the development of bioinformatics models for predicting clinical outcomes.
The activities carried out span from the genomic characterization of cancers and hereditary diseases to the study of biomarkers for translational medicine and the personalization of therapies. There is a consistent commitment to the collection of complex data and critical analysis, with intermediate results indicating significant progress toward the set objectives. The PhD students have also actively contributed to the writing of scientific articles and posters, which have been presented at national and international forums, demonstrating their communication skills and dissemination of results.
The impact of the program is substantial and multidimensional, contributing both to the advancement of scientific knowledge and to the implementation of innovative methodologies in the clinical field. Projects focused on the genetic characterization of cancers and rare diseases have led to promising results, such as the identification of genetic variants that are difficult to analyze using traditional techniques, and the application of new diagnostic tools, which improve the predictability of outcomes and optimize therapeutic pathways.
Collaborations with national and international centers of excellence have strengthened the scientific value of the program, making it possible to integrate bioinformatic data with clinical and multi-omic analyses. These activities not only consolidate the importance of the PhD program in the field of precision medicine but also lay the groundwork for a significant impact on the treatment of complex diseases. The multidisciplinary approach adopted by the PhD students, combining genomic research, bioinformatics, and technological development, is a concrete example of innovation and knowledge transfer.
A key strength of the program is the active participation of the PhD students in major scientific events and international collaborations. Reports highlight a significant presence at sector conferences such as ASCO, ESMO, and the National Forum on Precision Medicine, as well as workshops and summer schools organized by prestigious institutions such as EMBL-EBI and the Broad Institute.
Attending such events not only supports training and professional development but also enables PhD students to establish networks with other researchers, facilitating the sharing of methodologies and results. Particularly noteworthy is the involvement in collaborative research projects with foreign centers, such as the Universities of Pavia and Lübeck, and leading US institutions, which expand opportunities for exchange and professional growth.
Below is the list of the PhD students:
LAURA ALONZO
CV: Materials and technologies in Precision Medicine
Project: Analisi radiomica su immagini rm della texture linfonodale nei pazienti con oscc
Pubblications
- Magnetic Resonance Imaging of Endometriosis: the role of advanced techniques
HASAN AYAZ
CV: Oncology
Project: Development and investigation of molecularly engineered bovine Lactoferrin to overcome multidrug resistance in Acute myeloid leukemia (AML)
LUCIA BARTOLI
CV: Materials and technologies in Precision Medicine
Project: Study of genetic and molecular mechanisms underlying immune dysregulation in patients with common variable immunodeficiency
Pubblications
- Linking the genotype to the immunophenotype: preliminary data on a CVID cohort with TACI C104R mutation
- Effects of Adenosine A2A receptor inhibitors on lymphocytepopulations involved in tumor immunosurveillance
- Effects of adenosine A2A receptor inhibitors on effector function of human T lymphocyte subsets
- TIGIT and PD-1 immune checkpoints expression on lymphocytes infiltrate colorectal cancer
- Flow cytometric characterization of circulating T and B cells in patients with CTLA-4 deficiency
- Autosomal recessive CADINS disease caused by novel compound heterozygous variants in CARD11
- Human IL12RB1 deficiency reveals essentials roles of IL12 and IL23 in innate and adaptive immune responses
- Flow cytometric analysis of TILs from different layers of human Glioblastoma samples revealed an enrichment of T cells expressing PD-1 and tissue-resident markers in the intermediate and marginal layers
- Phenotypic and functional characterization of cerebral glioblastoma lymphocytes infiltrate based on TIGIT and PD-1 immune checkpoints expression
MARCELLO BUTERA
CV: Materials and technologies in Precision Medicine
Project: Calcaneoplasty with the addition of trabecular titanium spheres with osteoinductive activity in the treatment of displaced intra-articular calcaneal fractures: innovative surgical technique, in-vivo observational study and case series
Missions and other activities
- Docenza (membro della faculty) corso per specializzandi V anno e neo specialisti OTODI MASTER WEEK – Gruppo piede e Caviglia – Verona 27-30 marzo 2024
- Docenza (membro della faculty) corso per specializzandi II-III anno OTODI SPRING BOOT CAMP – Gruppo piede e Caviglia – Cervia 14-17 maggio 2024 Attività congressuale in qualità di relatore/responsabile scientifico/membro faculty
- 13° Focus ASOTO – LA TRAUMATOLOGIA DEL CINGOLO SCAPOLO-OMERALE (Resp. Scientifico) Palermo 20 aprile 2024
KATIA MARIA CALCARA
CV: Oncology
Project: Use of salivary ctDNA as a prognostic and predictive biomarker for response and resistance to anti-EGFR therapy in squamous cell carcinomas of the head and neck. Is rechallenge with cetuximab possible?
ENEA CHISCI
CV: Materials and technologies in Precision Medicine
Project: Artificial intelligence in imaging diagnostics for fluid analysis in neovascular AMD
Pubblications
- Predictive value of subretinal hyper-reflective material (SHRM) in a real-world cohort of wAMD patients treated with brolucizumab or aflibercept
- Development of an automated algorithm for grading of diabetic maculopathy according ESASO classification
- Relazione tra la variabilità della pressione arteriosa a breve termine e gli spessori corio-retinici valutati mediante OCT in soggetti ipertesi
- Mucus fishing Syndrome: an underinvestigated pool of research
- Multiple sclerosis and microchimerism – ophthalmological aspects
- Occlusione venosa retinica ed impianto intravitreale di desametasone: follow-up a lungo termine
- The Management of a Geriatric Patient Using Dabigatran Therapy on Dentigerous Cyst with Oral Bleeding
- Valutazione morfologico-funzionale OCT nelle OVR
- Occlusione venosa retinica ed impianto intravitreale di desametasone: follow-up a lungo termine
Missions and other activities
- Dialogo con il Registro nazionale degli impianto protesici dell’Istituto Superiore di Sanità per la feasibility di un registro nazionale protesico oftalmologico
CAROLINA CLEMENTI
CV: Rare Diseases
Project: A study on innovative molecular pathways and biomarkers in rare fibrotic disease through a multi-omics and AI approach
CAMILLA CORTESI
CV: Digital Health
Project: Development and validation of a patient-specific computational model through 4D flow MRI to explore atrial hemodynamics in atrial fibrillation and improve therapeutic approaches
Pubblications
- 4D Flow MR Imaging for Blood Velocity Field Validation: A Preliminary Study in Atrial Fibrillation Patients
- 4D Flow MR Imaging for Blood Velocity Field Validation: A Preliminary Study in Atrial Fibrillation Patients
Missions and other activities
- Dialogo con il Registro nazionale degli impianto protesici dell’Istituto Superiore di Sanità per la feasibility di un registro nazionale protesico oftalmologico
FABIO CORVINO
CV: Materials and technologies in Precision Medicine
Project: Transcatheter arterial embolization of abnormal vessels in the treatment of lateral epicondylitis (“tennis elbow”) refractory to conservative treatment
Pubblications
- Damage control interventional radiology in liver trauma: a comprehensive review
- Pelvic ring fractures with concomitant large hematomas: diagnostic investigation with arteriography and eventual embolization in 157 trauma patients, with or without contrast extravasation at emergency
- Pseudoaneurysms embolization with glue via percutaneous direct puncture: a multicenter experience on 54 patients
- Italian guidelines for vascular and endovascular surgery collaborators. guidelines on the diagnosis, treatment and management of visceral and renal arteries aneurysms: a joint assessment by the italian societies of vascular and endovascular surgery (sicve) and medical and interventional radiology
- Complications subsequent to urinary tract stent placement: an overview focusing on the imaging of cancer
ENRICO DI MARCO
CV: Oncology
Project: Prognostic and predictive role of Non-Coding RNAs from primary cultures of advanced solid tumors treated with Immune Checkpoint Inhibitors
Pubblications
- Exploring the potential of multiomics liquid biopsy testing in the clinical setting of lung cancer
Missions and other activities
- Convegno ESMO Barcellona 2024
ALESSIO ENDERTI
CV: Oncology
Project: Identification of methylation patterns and somatic structural variants in secondary acute myeloid leukaemia patients
Pubblications
- Enable: terapia con decitabina e venetoclax nella fase blastica di neoplasie mieloproliferative (mpn-bp). analisi molecolare di pazienti arruolati nello studio mynerva-gimema aml2420
- Atan caratterizzazione mediante sequenziamento long-read del circrnaoma in un modello in-vitro di mpn resistente a inbitore di jak
- Il proflo trascrizionale e fosefo-proteomico di topi calr+/- rivela la deregolazione delle vie di segnale coinvolte nell’omeostasi del calcio, nell’interazione cellula-cellulae nel trafficking di vescicole
SANTO FRUSCIONE
CV: Digital Health
Project: To create a multifunction advanced integrated surveillance system for community-based primary preventive interventionsThe
Pubblications
- Factors Associated with Primary Liver Cancer Survival in a Southern Italian Setting in a Changing Epidemiological Scenario
MARCO MARIA GERMANI
CV: Oncology
Project: Minimal residual disease detection with a tumour-uninformed approach in stage III and high-risk stage II resected colon cancer: a translational analysis of the ERASE CRC study by GONO
Pubblications
- Use of circulating tumor DNA (ctDNA) to affect the adjuvant or post-adjuvant treatment of patients with stage III and high-risk stage II resected colon cancer: The ERASE-CRC project by GONO
- Effect of p16 immunohistochemical expression (exp) on irinotecan in metastatic colorectal cancer (mCRC): A translational analysis of the TRIBE and TRIBE2
- Negative hyperselection and mechanisms of acquired resistance to first-line chemotherapy plus anti-EGFR in patients (pts) with pMMR RAS/BRAF wild-type (wt) metastatic colorectal cancer (mCRC): A translational analysis of the TRIPLETE trial
- Molecular screening with liquid biopsy for anti-EGFR retreatment in metastatic colorectal cancer: preliminary data from the randomized phase 2 PARERE trial
- Trifluridine/tipiracil plus capecitabine and bevacizumab as upfront treatment for metastatic colorectal cancer: Results of the phase 1 TriComB study
- Correlation between metastatic site and immunotherapy efficacy in patients with advanced dMMR/MSI colorectal cancer: Real-World Italian multicentric retrospective study (Colon-MSI)
- FOLFOXIRI/bevacizumab (bev) versus doublets/bev as initial therapy of unresectable liver-only, right-sided and/or RAS or BRAF mutated (mut) metastatic colorectal cancer (mCRC): An individual patient data-based pooled analysis of randomized trials
- Treatment of BRAFV600E mutated metastatic colorectal cancer patients after progression to encorafenib and cetuximab: data from a real-world nationwide dataset
- Predicting early recurrence after resection of initially unresectable colorectal liver metastases: the role of baseline and pre-surgery clinical, radiological and molecular factors in a real-life multicentre experience
- A misleading Case of NTRK-Rearranged Papillary Thyroid Carcinoma
RIDA HAIDER
CV: Neurodegenerative Diseases
Project: Investigating the Overexpression of Low-Density Lipoprotein Receptor (LDLR) and Reduced Microglial Activation as a Therapeutic Strategy to Overcome Tau-Associated Neurodegenerative disorders
Pubblications
- Probiotics and ACE Inhibitors Intervention Synergistically Mitigate Dysbiosis: A Systematic Review and Meta-Analysis
NATALIA ISEPPATO
CV: Materials and technologies in Precision Medicine
Project: Characterization of the molecular pathways underlying the origin and aggressiveness of micropapillary and poorly differentiated clusters (PDC)-displaying colorectal cancer histotypes using 3D culture models
UMER JAVED
CV: Oncology
Project: Biology and Bioinformatics applied to oncological research – Intracellular bacteria as mediators of oncogenic transformation and tumor progression
Missions and other activities
- Research activities at Mario Negri Institute, Milan
YUKA KAWADA
CV: Cardiovascular Diseases
Project: The RESPECT project, Use of intepREtable artificial intelligence techniqueS for a Personalized risk prediCTion of sudden cardiac death in patients with ischemic and non-ischemic left ventricular dysfuction
HAFIZ NADEEM KHAN
CV: Metabolic Diseases
Project: Discovery and Structural Studies of Novel Carbonic Anhydrase IX Inhibitors for Targeted Cancer Therapy
Pubblications
- The Interplay of Probiotics and Metformin in Addressing Dysbiosis
MICHELE LAMESTA
CV: Oncology
Project: Massimo Dominici, Domenico D’Arpa
Pubblications
- Targeting Thymidylate Synthase (hTS) suppresses colorectal cancer cell growth by inducing DNA damage and apoptosis
- Targeting DNA damage repair pathways to enhance cytotoxicity of Ddis against colorectal cancer cell lines
ALESSANDRA LIPANI
CV: Rare Diseases
Project: Identification of new correctors for mutant CFTR
Pubblications
- Molecules 3.0 – New pharmacological modulators for the rescue of mutant CFTR protein
ILARIA MANGHI
CV: Materials and technologies in Precision Medicine
Project: Development of AI and control techniques for innovative solutions in abdominal
Missions and other activities
- Incontro con Prof. Nassir Navab per collaborazione nelle attività di ricerca e visita ai laboratori ospedalieri del TUM
- Summer School – Seasonal School AIRONE – ‘Artificial Intelligence and RObotics in exteNded rEality’
- Summer School on ‘Artificial Intelligence in Health and Life Sciences’ – Roma, Campus Bio-Medico
- Hanlyn Winter School on Surgical Image and Vision – Londra, Imperial College, Hamlyn Center Engineering Facility
VALENTINA MANURI
CV: Materials and technologies in Precision Medicine
Project: Study of juvenile idiopathic scoliosis with Spine 3D and new applications in Orthopedics
Pubblications
- Treatment of flexible flatfoot in adolescents
- Nonmetallic tension band fixation is a viable and low-complication surgical technique in patellar fractures: a five-year retrospective study
EMANUELE MESSINA
CV: Digital Health
Project: Precision and integrated diagnostics for genitourinary cancers using AI algorithms and Network analysis, supported by digital infrastructures
Pubblications
- Design of a magnetic resonance imaging-based screening program for early diagnosis of prostate cancer: preliminary results of a randomized controlled trial-Prostate Cancer Secondary Screening in Sapienza (PROSA)
- Diagnosis of prostate cancer with magnetic resonance imaging in men treated with 5-alpha-reductase inhibitors
- MRI for risk stratification of muscle invasion by upper tract urothelial carcinoma: a feasibility study
- Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis
- Ventilatory efficiency in long-term dyspnoeic patients following COVID-19 pneumonia
MANDANA MIRZAJANI SARVANDANI
CV: Oncology
Project: Exploring the Bystander Effect of Cell Reporter Systems in Transfected Tumor Cell Lines Using Novel Cre Recombinase Technology
Pubblications
- ATR-FTIR in Legionella’s identification in routine: a preliminary study from genus to serogroup
- Proton Pump Inhibitors (PPIs) and their impact on the Gut Microbiota and Small Intestinal Bacterial Overgrowth (SIBO)
STEFANO MOCCI
CV: Oncology
Project: Hepatocellular Carcinoma and Genomics: Molecular Characterization and Therapeutic Implications
MATTEO MONTALBANO
CV: Oncology
Project: Evaluation of the role of ARID1A in colorectal cancers
Pubblications
- Clinicopathological and molecular features of arid1a-deficient gastric cancer: a review
GIULIA OLIVUCCI
CV: Rare Diseases
Project: Precision medicine in rare diseases: long-read sequencing to unravel the molecular mechanism of gastrointestinal stromal tumors and ring 14 syndrome
Pubblications
- Long read sequencing on its way to the routine diagnostics of genetic diseases
- New integrated approaches to solve the genomic complexity of Ring14 syndrome
- DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort
MATTEO PALLOCCA
CV: Materials and technologies in Precision Medicine
Project: Developing a Transcriptomics-driven model for Immunotherapy response prediction in Metastatic Melanoma
SARA PALUMBO
CV: Oncology
Project: Integrative Multi-Omics Approaches in Cancer Research
Pubblications
- Upper Tract Urothelial Cancer: Guideline of Guidelines
MARIO ANDREA PIGA
CV: Rare Diseases
Project: Endo-phenotyping immune-mediated fibrosis in the multi-OMICs and AI era
Pubblications
- ANCA-negative EGPA: only eosinophils without vasculitis? Insights from anti-T2 biologics
- Eosinophil-associated diseases: the allergist’s and clinical immunologist’s perspective
GAIA PREZIOSO
CV: Cardiovascular Diseases
Project: Innovative techNologies for mechanical parameter estimation in BIOmechanics and MECHanobiology
Missions and other activities
- Congresso ICoNSoM2024
- Congresso AIMETA
- Congresso EMI 2024 IC
MARIO ANDREA PIGA
CV: Oncology
Project: Endo-phenotyping immune-mediated fibrosis in the multi-OMICs and AI era
Pubblications
- Clinical relevance of exosome-derived microRNAs in Ovarian Cancer: Looking for new tumor biological fingerprints
- Role of plasma exosomes in crosstalk between immune system and hereditary ovarian cancer: opportunity or challenge?
- Pol: emerging synthetic lethal partner in homologous recombination-deficient tumors
- BRCA-associated hereditary male cancers: can gender affect the prevalence and spectrum of germline pathogenic variants?
- Prognostic relevance of baseline exosome-delivered PD-1, PD-L1, pan-BTN3As and BTN3A1 in advacnced cholangiocarcinoma patients: can immune checkpoints act as a sentinel for predicting survival?
- BRCA-associated hereditary male cancers: can gender affect the prevalence and spectrum of germline pathogenic variants?
- Mismatch Repair (MMR) and Homologous Recombination (HR) Deficiency: Real-Life Applications of biomarkers for complementary approaches in Epithelial Ovarian Cancer
NAMRA SAJID
CV: Rare Diseases
Project: A new insight in the determination of genetic variant in hypermobile Ehler-Danlos syndromes leading to cell therapy development: Advanced whole genome analysis
MARJAN SALEHI
CV: Oncology
Project: Analysis of Genetic Profiles in Patients with Metabolic Disorders for Prognostic Biomarker Identification and Nutrigenomics and Pharmacogenomics Studies
Pubblications
- The Interplay of Probiotics and Metformin in Addressing Dysbiosis
SARMAD SALIM
CV: Cardiovascular Diseases
Project: The Roles of Foods as Promoters and Inhibitors of Inflammatory Processes Associated with Obesity and Cardiovascular Diseases
GIORGIA SARTI
CV: Neurodegenerative Diseases
Project: A preclinical study on the role of ?-amyloid produced by gut microbiota in brain inflammation and Alzheimer’ Disease pathogenesis. Preventive role by prebiotic and probiotic administration
MUHAMMAD NAUMAN SHARIF
CV: Materials and technologies in Precision Medicine
Project: Advancements in Enzyme Immobilization Techniques for Achieving Enhanced Performance in Electrochemical Biosensors Research Proposal
SUMBAL SHAUKAT
CV: Materials and technologies in Precision Medicine
Project: Targeted nanoparticles to enhance the activities of CAR T-cells for sarcoma treatment (Materials and Technologies in Precision Medicine)
SHAZIA TAHIR
CV: Cardiovascular Diseases
Project: The mitochondrion at the Centre of Alzheimer’s disease Pathogenesis; Role of Neuroinflammation
UGO RANDAZZO
CV: Oncology
Project: Exosomes as carriers of new prognostic and predictive biomarkers: potential role of liquid biopsy in management of ovarian cancer patients
Pubblications
- Clinical relevance of exosome-derived microRNAs in Ovarian Cancer: Looking for new tumor biological fingerprints
- Role of plasma exosomes in crosstalk between immune system and hereditary ovarian cancer: opportunity or challenge?
- Pol: emerging synthetic lethal partner in homologous recombination-deficient tumors
- BRCA-associated hereditary male cancers: can gender affect the prevalence and spectrum of germline pathogenic variants?
- Prognostic relevance of baseline exosome-delivered PD-1, PD-L1, pan-BTN3As and BTN3A1 in advacnced cholangiocarcinoma patients: can immune checkpoints act as a sentinel for predicting survival?
- BRCA-associated hereditary male cancers: can gender affect the prevalence and spectrum of germline pathogenic variants?
- Mismatch Repair (MMR) and Homologous Recombination (HR)
- Deficiency: Real-Life Applications of biomarkers for complementary approaches in Epithelial Ovarian Cancer