Omics in Diagnostics
A.Y. 2023/2024
Learning objectives
Undefined
Expected learning outcomes
Undefined
Lesson period: First semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course can be attended as a single course.
Course syllabus and organization
Single session
Course syllabus
· Human genetic variation and interpretation of genetic variants
· Genetic basis of disease
- Modes of inheritance
- Monogenic diseases
- Multifactorial diseases
· 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
· Pharmacogenomics
- Targeted therapy
· Genetic analyses for rare diseases
· Specific disease biomarkers
- Oncology (somatic mutations)
- Inherited diseases (germline mutations)
· Profiling techniques
· Data analysis in a diagnostic setting
· Biomarkers in predictive pathology and translational research
· Principles of biobanking for translational medicine
· Future omics biomarkers
· Legal aspects of genomic testing (GDPR)
· Genetic basis of disease
- Modes of inheritance
- Monogenic diseases
- Multifactorial diseases
· 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
· Pharmacogenomics
- Targeted therapy
· Genetic analyses for rare diseases
· Specific disease biomarkers
- Oncology (somatic mutations)
- Inherited diseases (germline mutations)
· Profiling techniques
· Data analysis in a diagnostic setting
· Biomarkers in predictive pathology and translational research
· Principles of biobanking for translational medicine
· Future omics biomarkers
· Legal aspects of genomic testing (GDPR)
Prerequisites for admission
Basic knowledge of genomics and data analysis.
Teaching methods
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.
Live discussions and questions during lecture and tutorials are encouraged.
Teaching Resources
Slides and scientific material provided during lectures
Assessment methods and Criteria
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.
Attendance to at least 75% of class activities is required to be allowed to take the exam.
MED/03 - MEDICAL GENETICS
MED/08 - PATHOLOGY
MED/08 - PATHOLOGY
Lessons: 48 hours
Professor(s)
Reception: