Clinical biochemistry and molecular biology

A.Y. 2020/2021
Overall hours
Learning objectives
Aim of the course is to describe the role of clinical biochemistry and clinical molecular biology tests in Laboratory Medicine, with regards to acquired and inherited diseases. Clinical trials, basic researches and technological advances are treated in relationship with the predisposition to illnesses, clinical diagnosis and monitoring, with particular attention to the traditional and novel therapies.
Expected learning outcomes
By the end of the course the student will acquire:
- Knowledge on the role of laboratory tests in the management of the most common human diseases
- Knowledge on the interpretation of laboratory test in Laboratory medicine
- Personal critical opinion on the development of novel biomarkers and related diagnostic products.
Course syllabus and organization

Single session

Lesson period
Second semester
The lectures will be performed under synchronous modality, by means of the Zoom platform. ID and password of the meetings will be displayed in the Ariel website of the course, at least 15 days before the beginning of the lectures.
Course syllabus
Principles of the pre-analytical, analytical and post-analytical phases in the management of clinical laboratory
Sample handling for nucleic acid extraction, purification and amplification
Approaches of the -omics to the development of novel biomarkers
Principles of precision medicine
Analyses of free nucleic acids in plasma and related applications (from pre-natal diagnosis to liquid biopsy)
Clinical, diagnostic and research aspects related to the following pathologies:
- Red cell enzymatic disorders
- Red cell membrane disorders
- Thalassemic syndromes and structural hemoglobinopathies
- Disorders of Iron metabolism
- Congenital and acquired defects of glycosylation
- Trace elements disorders, with particular attention to Copper, Zinc, Selenium and Vit D
- Diabetes mellitus, with particular attention to incretins and biochemical bases of diabetic complications
- Hyperomocystinemia and cardiovascular risk
- Congenital hypothyroidism, with particular attention to the organification defects
- Cystic fibrosis
- Coagulation disorders, with particular attention to hereditary hemorrhagic and thrombotic forms
- Amyloidosis and amyloid proteins, with particular attention to novel methodologies useful to misfolding testing
- Congenital hyperphenylalaninemia
- Malaria
Prerequisites for admission
A good background in biochemistry, human anatomy, general pathology and general physiology is required.
Teaching methods
Interactive lectures supported by specialized readings. At least three seminars given by employees of the National Health system will be organized during the course. The student will be actively involved in the discussion to improve his critical skills, by re-working on acquired concepts and by communicating in an appropriate manner.
Teaching Resources
1. M. Ciaccio, G. Lippi. Biochimica Clinica e medicina di Laboratorio. II edizione, EdiSeS 2018
2. N. Rifai, A.R. Horwath, C.T. Wittwer. Tietz textbook of Clinical Chemistry and Molecular Diagnostics. Sixth edition, Elsevier Saunders, St. Louis 2018.
Assessment methods and Criteria
The examination procedure is in written form with three open questions of equal weight. Students who have not attended at least 75 % of the lessons will have to undertake an oral examination as well.
Lessons: 48 hours
Professors: Mosca Andrea, Tringali Cristina Alessandra
By appointment by mail/phone
via F.lli Cervi 93-LITA Segrate