Omics in diagnostics
A.A. 2025/2026
Obiettivi formativi
The aim of the course is to teach the use of omics technologies in a diagnostic setting.
The course will cover the identification, analysis and applications of different types of biomarkers, focusing mainly on genomics approaches applied to clinical problems and data analysis of real data from clinical genomics laboratories.
The course will cover the identification, analysis and applications of different types of biomarkers, focusing mainly on genomics approaches applied to clinical problems and data analysis of real data from clinical genomics laboratories.
Risultati apprendimento attesi
At the end of the course, students are expected to:
i) understand the clinical question at the basis of omics analyses in a diagnostic setting;
ii) select appropriate laboratory protocols for the clinical problem under analysis;
iii) perform the appropriate data analysis independently.
i) understand the clinical question at the basis of omics analyses in a diagnostic setting;
ii) select appropriate laboratory protocols for the clinical problem under analysis;
iii) perform the appropriate data analysis independently.
Periodo: Primo semestre
Modalità di valutazione: Esame
Giudizio di valutazione: voto verbalizzato in trentesimi
Corso singolo
Questo insegnamento non può essere seguito come corso singolo. Puoi trovare gli insegnamenti disponibili consultando il catalogo corsi singoli.
Programma e organizzazione didattica
Edizione unica
Programma
· Human genetic variation and interpretation of genetic variants
· Genetic basis of disease
- Modes of inheritance
- Monogenic diseases
- Multifactorial diseases
· Genome-wide association studies
· Polygenic Risk Scores
· Pharmacogenomics - Targeted therapy
· Genetic analyses for rare diseases
· Prenatal Diagnosis
· Introduction to the concept of clinically useful Biomarkers
· Biological and clinical interpretation of germline genomic variants (of particular relevance)
· Biological and clinical interpretation of somatic genomic variants
· Biological and clinical interpretation of liquid biopsies and other circulating biomarkers
· Future omics biomarkers
· Legal aspects of genomic testing (GDPR)
· Profiling techniques (ISH, immunogenetics, etc.)
· Biomarkers in predictive pathology and translational research
· Principles of biobanking for translational medicine
· Spatial omics in diagnostic pathology
· Artificial Intelligence in pathology
· Genetic basis of disease
- Modes of inheritance
- Monogenic diseases
- Multifactorial diseases
· Genome-wide association studies
· Polygenic Risk Scores
· Pharmacogenomics - Targeted therapy
· Genetic analyses for rare diseases
· Prenatal Diagnosis
· Introduction to the concept of clinically useful Biomarkers
· Biological and clinical interpretation of germline genomic variants (of particular relevance)
· Biological and clinical interpretation of somatic genomic variants
· Biological and clinical interpretation of liquid biopsies and other circulating biomarkers
· Future omics biomarkers
· Legal aspects of genomic testing (GDPR)
· Profiling techniques (ISH, immunogenetics, etc.)
· Biomarkers in predictive pathology and translational research
· Principles of biobanking for translational medicine
· Spatial omics in diagnostic pathology
· Artificial Intelligence in pathology
Prerequisiti
Basic knowledge of omics methods, statistics and data analysis.
Metodi didattici
Lectures will be accompanied by tutorials. Class discussion will be also organized with presentation of real data form diagnostic laboratories using omics technologies, during which students are required to actively interact. Live discussions and questions during lecture and tutorials are encouraged.
Materiale di riferimento
Slides and scientific material provided during lectures.
Modalità di verifica dell’apprendimento e criteri di valutazione
The overall assessment of the students will be based on their performance in an oral examination. Attendance to at least 75% of class activities is required to be allowed to take the exam.
MED/03 - GENETICA MEDICA
MED/08 - ANATOMIA PATOLOGICA
MED/08 - ANATOMIA PATOLOGICA
Lezioni: 48 ore
Docente/i
Ricevimento:
previo appuntamento da concordare via e-mail
Ricevimento:
Ricevimento:
Previo appuntamento via email, Giovedì 14.00 - 17.00
Istituto AIRC di Oncologia Molecolare (IFOM), Via Adamello 16, Milano