Clinical Molecular Biology
A.Y. 2018/2019
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
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
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 <75 % of the lessons)
Teaching Methods
Lectures
Language of instruction
Italian
WEB: http://amoscabmc.ariel.ctu.unimi.it/v3/Home/default.aspx
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 <75 % of the lessons)
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
Professor:
Mosca Andrea