Clinical molecular biology

A.Y. 2017/2018
6
Max ECTS
48
Overall hours
SSD
BIO/12
Language
Italian
Learning objectives
Aim of the course is to describe the role of 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
Undefined
Course syllabus and organization

Single session

Lesson period
Second semester
Course syllabus
Organization of the clinical molecular biology laboratory. Sample handling for nucleic acid extraction, purification and amplification. Internal and external quality control procedures. Pre-analytical factors. New bioinformatics for the development of functional genomics. Mass spectrometry in the study of clinical proteomics. Applications of clinical molecular biology: a) diseases with Mendelian inheritance (hemochromatosis, cystic fibrosis, genetic defects of red cells, congenital hypothyroidism); b) complex multigenic diseases (cardiovascular diseases, diabetes mellitus, amyloid diseases, malaria); c) relationship between phenotype and genotype in the clinical practice; d) genetic screening and counselling.

Reference Material
C.A. Burtis, E.R. Ashwood, D.E. Bruns. Tietz textbook of Clinical Chemistry and Molecular Diagnostics. Fifth edition, Elsevier Saunders, St. Louis 2012.

Prerequisites and examination procedures
Good background in General Pathology
written exam (students attending all the lessons)
written + oral (students attending

Teaching Methods
Lectures


Language of instruction
Italian


WEB: http://amoscabmc.ariel.ctu.unimi.it/v3/Home/default.aspx
BIO/12 - CLINICAL BIOCHEMISTRY AND MOLECULAR BIOLOGY - University credits: 6
Lessons: 48 hours
Professors: Barassi Alessandra, Mosca Andrea
Professor(s)