Clinical Biochemistry and Molecular Biology
A.Y. 2019/2020
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.
- 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.
Lesson period: Second semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course cannot be attended as a single course. Please check our list of single courses to find the ones available for enrolment.
Course syllabus and organization
Single session
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
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
The student is strongly advised to have acquired basic knowledge in biochemistry, general physiology and general pathology.
Teaching methods
The course is based on interactive lessons supported by projected materials. Students are stimulated to actively participate to the lecture/discussion in order to improve their critical spirit. This is achieved by carefully looking at the provided literature and by communicating their concepts in an adequate mode. The attendance to the lectures is strongly advised.
Teaching Resources
The presentations of all the lectures are available through the Ariel website, as well as the suggested readings (usually one reading per lecture).
Reference textbooks are the following:
1) Marcello Ciaccio, Giuseppe Lippi. Biochimica Clinica e Medicina di Laboratorio. EdiSES srl, Napoli, 2018.
2) Nader Rifai, Andrea R. Howarth, Carl T. Wittwer. Tietz textbook of Clinical Chemistry and Molecular Diagnostics. Elsevier, 2018
Reference textbooks are the following:
1) Marcello Ciaccio, Giuseppe Lippi. Biochimica Clinica e Medicina di Laboratorio. EdiSES srl, Napoli, 2018.
2) Nader Rifai, Andrea R. Howarth, Carl T. Wittwer. Tietz textbook of Clinical Chemistry and Molecular Diagnostics. Elsevier, 2018
Assessment methods and Criteria
Written exam with 3 open questions, to be completed in 90 min. The evaluation is independently performed by 2 teachers by judging how completely the questions have been answered, the presence of errors, and if the student has proven a complete knowledge of the matter. The evaluations are averaged. No pre-test or intermediate assays are planned. The results are communicated through the dedicated University web-site(https://work.unimi.it/boDocenti/InserimentoEsitiEVerbalizzazione?2).
BIO/12 - CLINICAL BIOCHEMISTRY AND MOLECULAR BIOLOGY - University credits: 6
Lessons: 48 hours
Professor:
Mosca Andrea
Shifts:
-
Professor:
Mosca Andrea