-
Presentation
Presentation
The Molecular Techniques for Diagnosis course aims to familiarise students with the molecular bases and principles of the techniques used in molecular diagnostics. Students will have contact with different molecular diagnostic methods and the interpretation of data resulting from molecular diagnostic tests. In this course, innovation is emphasised, highlighting the importance of developing new techniques and methodologies associated with molecular diagnostics.
-
Class from course
Class from course
-
Degree | Semesters | ECTS
Degree | Semesters | ECTS
Master Degree | Semestral | 5.5
-
Year | Nature | Language
Year | Nature | Language
1 | Mandatory | Português
-
Code
Code
ULHT6942-25998
-
Prerequisites and corequisites
Prerequisites and corequisites
Not applicable
-
Professional Internship
Professional Internship
Não
-
Syllabus
Syllabus
1. Introduction to Molecular Techniques in Clinical Diagnosis. 2. Fundamentals of Genetics and Molecular Biology. Structure and function of DNA and RNA. Genetic mutations and clinical implications 3. Central Laboratory Techniques a. Next Generation Sequencing (NGS) b. Exome sequencing c. Metagenomics d. Sanger sequencing e. PCR techniques. RT-PCR and digital PCR 4. Immunoassays in Molecular Diagnosis Principles of immunoassays Applications and limitations 5. Point of Care (POC) Approach and Near Patient Testing a. RT-LAMP Fundamentals and applications in rapid pathogen detection b. Lab-on-Phone Integrating molecular biology and mobile technology for diagnosis c. Advanced POC techniques Sensors, microfluidics and other innovations Advantages, challenges and future prospects 6. Regulation and Ethics in Molecular Diagnostics Quality and safety standards Ethical implications of genetic diagnosis 7. Laboratory Practices Hands-on experiments in highlighted techniques 8. Case studies
-
Objectives
Objectives
The Molecular Techniques for Diagnosis CU aims to familiarise students with the molecular basis of diseases and the principles of molecular diagnostic techniques. The aim is to develop students' skills in selecting and applying molecular techniques and interpreting results in a clinical context. The competences to be developed in this course are: critical evaluation of molecular technologies; effective communication of results; ethics in molecular diagnosis. This CU combines theory and practice to provide robust training in molecular diagnostics.
-
Teaching methodologies and assessment
Teaching methodologies and assessment
The following teaching and learning methodologies are intended to be applied in the Molecular Techniques for Diagnosis CU: 1. Interactive lectures: Introduction to each technique and its context. 2. Thematic Seminars: Invite experts in the field to share practical cases 3. Practical Laboratories: Hands-on experiences with techniques such as NGS, RT-PCR, and RT-LAMP. Simulation of clinical scenarios and interpretation of results. 4. Directed Study: Use of digital resources that allow students to explore techniques in simulated environments. 5. Group Work: Small group projects where students apply diagnostic techniques to hypothetical or real scenarios. 6. Formative Assessment: Presentations and laboratory reports will be used to assess student progress. 7. Debates and Role-playing: Discussions on ethics and regulation in genetic diagnostics. 8. Tutorials: Scheduled sessions where students can discuss doubts, clarify concepts and receive additional guidance.
-
References
References
1. Chin, C. D., Laksanasopin, T., & Sia, S. K. (2020). Commercialization of microfluidic point-of-care diagnostic devices. Lab on a Chip, 20(11), 1891-1900. 2. Sedlak, R. H., & Jerome, K. R. (2018). Viral diagnostics in the era of digital polymerase chain reaction. Diagnostic microbiology and infectious disease, 91(1), 20-26. 3. Mauk, M. G., Song, J., Bau, H. H., & Gross, R. (2020). Point-of-Care Molecular Testing for COVID-19: Notes from the Front Lines. ACS Sensors, 5(7), 1822-1835. 4. Srivatsan, S., & Han, J. (2018). Microfluidics-based point-of-care testing for infectious diseases. Advanced biosystems, 2(11), 1800067. 5. Deurenberg, R. H., Bathoorn, E., Chlebowicz, M. A., Couto, N., Ferdous, M., García-Cobos, S., ... & Zhou, K. (2017).Journal of Biotechnology, 243, 16-24. 6. Njiru, Z. K. (2018).Loop-mediated isothermal amplification technology: towards point of care diagnostics. PLoS neglected tropical diseases, 6(6), e1572. 7. Lequin, R. M. (2005). Clinical chemistry, 51,2415
-
Office Hours
Office Hours
-
Mobility
Mobility
No