39305 - Applied Clinical Biochemistry

Learning outcomes

At the end of the course, the student will acquire the essential knowledge of the following topics: preanalytical error, analytical and biological variability, quality control, decision and critical values, sensitivity and specificity of a laboratory test; personalized medicine, NGS, epigenetics; liquid biopsy. The student will develop the ability to assess the functional status of organs and tissues through knowledge of the methodological basis and interpretation of the results of the main laboratory investigations.

Course contents

Course contents:

• Course introduction
• Laboratory medicine: the pre-analytical, analytical and post-analytical phases
• Variability and standardization of laboratory testing
• Performance of a laboratory test: sensitivity, specificity, predicting values, ROC curves, clinical validation.
  
• In Vitro Diagnostic Medical Device Regulation (IVDR)
• Personalized medicine: new diagnostic and bioinformatic approaches that provide understanding of the molecular basis of disease and stratify related patients
• DNA sequencing methods: from Sanger Sequencing to second, third and 4th generation sequencing
• Useful data obtained from NGS experiments
• Principle of epigenetics
• The use of genetic and epigenetic biomarkers in oncology and neurological disorders
• The assessment of diagnostic, prognostic and predictive tests with examples from new assays based on Next Generation and nanopore Sequencing
• Liquid biopsy to monitor the evolution of the cancer genome through a minimally invasive technique
• Tumor heterogeneity and single cell sequencing
• Bioinformatic tools in Clinical molecular biology
  
• Cerebrospinal fluid analysis in the central nervous system diseases

Readings/Bibliography

Files will be provided by IOL platform (.pdf slides, video, reference papers)

Teaching methods

Lectures, Power point presentations, video, assessment tests using .quizizz platform

Assessment methods

The verification of learning takes place through a final examination that ascertains the acquisition of the expected knowledge by means of an oral test. This test aims to assess the achievement of the learning objectives, represented by the ability to recognise and discuss the following topics: performance of laboratory tests; personalised medicine; next-generation DNA sequencing; clinical applications of epigenetics; tumour heterogeneity; liquid biopsy.

Insufficient: lack of preparation. Serious and repeated conceptual errors.

18-19: knowledge of the basic concepts without serious gaps. Exposition of concepts and language as a whole acceptable.

20-24: knowledge of the basic concepts without gaps. Ability to analyze and link in partial autonomy. Exposure of discrete concepts and language.

25-29: preparation of good or very good level or even excellent preparation but with inaccuracies in the presentation that compromise the achievement of full marks. Ability to analyze and link independently. Exposure of concepts in the right succession and mastery of the language.

30-30L: full preparation, consolidated and without inaccuracies on the topics covered in the course. Ability to promptly frame the topic. Ability to analyze and connect independently. Concepts in the right succession and full command of the specific language.

The grade obtained will then be taken into account in the overall context of the examination of the Integrated Course in “Clinical Biochemistry II”, taking into account the CFUs allocated to the individual subjects.

Students with learning disorders and\or temporary or permanent disabilities: please, contact the office responsible (https://site.unibo.it/studenti-con-disabilita-e-dsa/en/for-students) as soon as possible so that they can propose acceptable adjustments. The request for adaptation must be submitted in advance (15 days before the exam date) to the lecturer, who will assess the appropriateness of the adjustments, taking into account the teaching objectives.

Teaching tools

Power point presentations, video, assessment tests using .quizizz platform

Office hours

See the website of Luca Morandi