Clinical molecular biology

A.Y. 2017/2018
Lesson for
6
Max ECTS
48
Overall hours
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.

Course structure and Syllabus

Active edition
Yes
Responsible
Lessons: 48 hours
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
Lesson period
Second semester
Lesson period
Second semester
Assessment methods
Esame
Assessment result
voto verbalizzato in trentesimi