THREE-DIMENSIONAL MODELING

Course objectives

General skills. At the end of the course, students will acquire the theoretical/practical principles of the most frequently used methodologies in Molecular Diagnostics and will be able to critically evaluate and interpret the experimental procedures and the result of the tests used for the diagnosis of some of the main pathologies. In particular, students will be able to fully describe the execution of a diagnostic test, starting from the phase of collection/preparation of biological materials (such as plasma, serum, urine or tissues or cellular preparations), to the detection of the main macromolecules (proteins, lipids, carbohydrates) or metabolites of clinical relevance, up to the interpretation of the results of the diagnostic study. Specific skills. a) knowledge and understanding - knowledge of the techniques of Molecular Biology and Molecular Genetics used in Molecular Diagnostics, including their theoretical basis; - knowledge of the fundaments of Molecular Biology and Molecular Genetics needed to interpret the results of molecular diagnostic; b) applying knowledge and understanding - ability to critically evaluate the adequacy and limits of the different methodologies of Molecular Diagnostics; - ability to choose the appropriate molecular methodology to address a specific diagnostic issue; c) making judgments - be able to critically evaluate the results of the diagnostic tests presented in the course; - be able to critically analyse the scientific literature in the field of Molecular Diagnostics; d) communication skills - be able to illustrate and describe the main analytical techniques with scientific rigor and property of language; - be able to explain and interpret the results of the main diagnostic tests, in relation with the pathological issues under examination; e) learning skills - knowledge of the correct terminology used in the field; - acquisition of the basic knowledge needed to work in a Molecular Diagnostic lab.

Channel 1
STEFANO CACCHIONE Lecturers' profile

Program - Frequency - Exams

Course program
• General techniques of molecular biology. Isolation and analysis of nucleic acids. Restriction and modification enzymes, electrophoresis, Southern and Northern lots, oligonucleotides, PCR. Preparation of radioactive and fluorescent probes. • DNA polymorphisms. Mendelian diseases: autosomal dominant, autosomal recessive, X-linked. Multifactorial polygenic diseases. Chromosomal anomalies. • Advanced techniques of molecular diagnostics: microarrays, Real-time PCR, DNA sequencing, next generation sequencing (NGS). • Molecular diagnostics in prenatal diagnosis, clinical microbiology, oncology, forensic analysis. • Towards precision medicine: genome, exome, and transcriptome sequencing, single-cell sequencing.
Prerequisites
Knowledge of the basic concepts of Biochemistry, Molecular Biology and Cell Biology. Knowledge of the basic technologies used in molecular biology and biochemistry, including recombinant DNA methodologies, chromatography, electrophoresis, and enzymatic assays
Books
Reviews and articles, together with lectures (PDF), will be available on the course website on e-learning platform. TEXTS: For basic Molecular Biology and basic techniques: Zlatanova J and van Holde KJ, Biologia Molecolare, struttura e dinamica di genomi e proteomi, Zanichelli ed. (2018), italian version Molecular Biology: structure and dynamics of genomes and proteomes, Taylor and Francis eds, english version For molecular biology techniques: Hofmann A & Clokie S, Wilson and Walker’s Principles and Techniques of Biochemistry and Molecular Biology (8th edition), Cambridge University Press (2018) Brown TA, Biotecnologie Molecolari, principi e tecniche (2a edizione), Zanichelli (2017), Italian version Gene Cloning and DNA Analysis: An Introduction, John Wiley and Sons eds.
Frequency
The educational format is based on 24 hours of face-to-face teaching (two hours/lecture).
Exam mode
Students will be evaluated by oral exam
Lesson mode
The course consists of two integrated modules (Molecular Diagnostics and Biochemical Diagnostics). The layout of the teaching activities has to be considered comprehensive of both modules. The course will be carried out through theoretical lectures (24 hours for each module). Lectures (24 hours): • Explanation of the topics covered by the program through slides and audiovisual material. This educational model is aimed at providing the theoretical knowledge of most common biochemical methodologies. • Open discussion of the topics of the lessons, during which the students are called to intervene, which have the purpose of developing the skills of communication, criticism and judgment.
  • Academic year2025/2026
  • CourseBiochemistry
  • CurriculumSingle curriculum
  • Year2nd year
  • Semester1st semester
  • SSDBIO/10
  • CFU3