Learning Outcomes
Upon completion of the course, students are expected:
- to know and understand the main diagnostic methods applied to genetic, immunological and infectious diseases and their prospects
- to assess the possible ethical and social implications of genetic testing
- to distinguish and propose the appropriate diagnostic method in different disease categories and justify their choice
- to explain the various types of biomarkers and their limitations
- to understand the importance of using scientific literature, know how to extract information from databases and acquire the ability to present a scientific topic.
Course Content
- Molecular diagnosis of genetic diseases
- Current methods of molecular diagnosis of monogenic (Mendelian) diseases and chromosomal abnormalities. Risk assessment for multifactorial diseases and identification of molecular predisposition markers. Application of advanced omics technologies in the diagnosis of genetic diseases.
- Immune disorders’ diagnosis
- Diagnosis of hypersensitivity reactions: Types of hypersensitivity reactions and predisposing factors. Laboratory testing of allergic reactions. Autoimmune disorders: Mendelian and multifactorial disorders. Clinical manifestations and laboratory testing of autoimmune disorders, hematological testing, organ-specific biochemical markers, autoantibodies, and molecular markers of predisposition.
- Immunodeficiencies and chronic inflammatory diseases. Current and experimental diagnostic methods.
- Immune system and types of immunity. Primary and secondary immunodeficiencies: causes, mechanisms and clinical symptoms. Diagnosis and replacement therapies. Chronic inflammatory diseases. Clinical symptoms, current and ongoing experimental diagnostic methods.
- Diagnosis of infectious diseases
- Mechanisms of bacterial pathogenesis – Innovative therapeutic approaches. Human-microorganism interaction. Emerging infectious diseases. Mechanisms of bacterial pathogenesis and infectious agents. Antibiotic resistance. Innovative methods of treating infectious diseases.
- Detection and identification of viruses: From cell cultures to molecular techniques. Overview of the replication cycle of viruses, Baltimore classification groups and the regulation of the expression of genetic information. Use of cell cultures for the detection of viruses. Modern methods of detection and identification of viruses. Vaccines and antiviral therapy.
Student Evaluation
Students are evaluated based on their presentation of a relevant scientific topic (30%) and a written exam during the examination period (70%). The written exam includes:
- free-form questions with graded difficulty
- problem-solving and critical thinking questions
- multiple-choice
Recommended Bibliography
- An Evidence Framework for Genetic Testing. Washington (DC): National Academies Press (US); 2017 Mar 27 (https://www.ncbi.nlm.nih.gov/)
- Kuby Ανοσολογία, Έκδοση: 3/2021. Συγγραφείς: Pund Jenni, Stranford A. Sharon, Jones P. Patricia, Owen A. Judith ISBN: 9789925576760.(Εκδότης): BROKENHILLPUBLISHERSLTD
Journals
- The journal of molecular diagnostics
- Molecular Diagnostics (section of Journal of Clinical Medicine)
- Expert Review of Molecular Diagnostics
- Nature immunology
- Frontiers in immunology