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

Codice insegnamento
4S004560
Docenti
Cristina Bombieri, Giovanni Malerba
crediti
3
Settore disciplinare
MED/03 - GENETICA MEDICA
Lingua di erogazione
Inglese
Sede
VERONA
Periodo
II sem. dal 1-mar-2017 al 9-giu-2017.

Per visualizzare la struttura dell'insegnamento a cui questo modulo appartiene, consultare * organizzazione dell'insegnamento

Orario lezioni

Obiettivi formativi

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.



Programma

- 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.



Testi di riferimento
Autore Titolo Casa editrice Anno 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

Modalità d'esame

L’esame consiste in un colloquio orale unico sui contenuti di entrambi i moduli dell’insegnamento, da sostenere in uno dei 4 appelli così distribuiti durante l’anno accademico: 2 appelli nella Sessione estiva a fine corso, 1 Appello nella Sessione Autunnale, 1 appello nella Sessione Straordinaria.
Lo studente dovrà dimostrare di aver raggiunto una comprensione dei contenuti che permetta una analisi critica e una rielaborazione dei concetti studiati e di saper applicare le conoscenze acquisite per interpretare pedigree e dati genetici e determinare i rischi genetici di ricorrenza, esponendo le proprie argomentazioni in modo preciso e organico e con l’appropriato linguaggio scientifico.
A fine colloquio verrà formulata una valutazione unica considerando la preparazione complessiva dello studente.

Opinione studenti frequentanti - 2016/2017