Medical Genetics - FUNDAMENTALS OF MEDICAL GENETICS (2016/2017)

Course code
Name of lecturers
Cristina Bombieri, Giovanni Malerba
Number of ECTS credits allocated
Academic sector
Language of instruction
II sem. dal Mar 1, 2017 al Jun 9, 2017.

To show the organization of the course that includes this module, follow this link * Course organization

Lesson timetable

II sem.
Day Time Type Place Note
Monday 9:30 AM - 11:30 AM lesson Lecture Hall G  

Learning outcomes

The course aims to provide competences of human medical genetics and of advanced technologies and methods used to study and analyse genetic diseases.
At the end of the course, the students will have knowledge and tools necessary for the understanding of principles and mechanisms responsible for the occurrence of genetic diseases, as well as of the different techniques and methods for genetic disease analyses.


- Mendelian disease gene and mutation identification. Positional and functional cloning. Linkage analysis, human gene mapping, sequencing. Identification of disease causing mutations. Direct and indirect mutation analysis.
- Medical genetics. Examples of single-gene diseases: Thalassemias; Cystic Fibrosis.
- Modifier genes and complexity in single-gene disorders.
- The inheritance of multifactorial traits. Genetics of common disorders with complex inheritance, genetic and environmental factors, qualitative and quantitative traits, genetic predisposition to common diseases. General aspects od the identification of genetic factors in complex diseases. Segregation analysis: Mapping of complex traits, Familial and twin studies. Parametric and Non parametric Linkage. Linkage disequilibrium. Linkage and association analyses. Candidate gene studies, genome wide association studies (GWAS).
- Pharmacogenetics and precision medicine. Individual variation of drug response. Genes and polymorphisms of drug metabolism and mechanism of drug action. Molecular diagnostics of pharmacogenetic traits.
- Cancer genetics. Cancer as genetic, somatic and multifactorial disease, hereditary and sporadic cancers, Two-Hits model (Knudson model). Classification and characterization of cancer genes (oncogenes, gatekeeper and caretaker tumor soppressor genes). Loss of heterozygosity (LOH), microsatellite instability (MIN).
- Genetic risks and risk estimation. Bayesian analysis. Consanguinity and genetic risk.
- Genome scan. Study design, quality control of data, imputation, risk assessment, linkage and association.
- Genome sequencing and Genomic, Exomic, and Transcriptomic analysis. Gene counting. Isoforms. Bioinformatics and Genomics.

The teaching will be delivered in English, through frontal sessions covering the whole exam program (12 lessons).
Prerequisite to this module is the comprehension of concepts presented in the module of Human Genetics. Oral explanations will be coadiuvated by PowerPoint presentations. Summaries of these presentations, other additional didactic materials and possible updatings and communications, will be made available to students, in pdf format for download, through a dedicated homepage on the University e-learning platform, troughout the course.
During the whole Academic Year, students may request personal reception to the teachers, by e mail.

Reference books
Author Title Publisher Year ISBN Note
Strachan, Goodship, Chinnery Genetics and Genomics in Medicine (Edizione 1) Garland Science - Taylor and Francis Group 2014
Bradley Schaefer G., Thompson J.N. jr. Medical Genetics – An integrated approach (Edizione 1) McGraw-Hill 2014
Nussbaum, McInnes, Willard Thompson & Thompson Genetics in Medicine (Edizione 8) Elsevier 2016

Assessment methods and criteria

The exam consists in a single oral discussion on the topics listed in the syllabus of both the modules, simultaneously. See details in the “Assessment methods and criteria” section relative to the whole teaching.