Medical Genetics - FUNDAMENTALS OF MEDICAL GENETICS (2019/2020)

Course code
4S004560
Name of lecturer
Giovanni Malerba
Number of ECTS credits allocated
3
Academic sector
MED/03 - MEDICAL GENETICS
Language of instruction
English
Location
VERONA
Period
II semestre dal Mar 2, 2020 al Jun 12, 2020.

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

Lesson timetable

Go to lesson schedule

Learning outcomes

The course aims at providing competences of human medical genetics at different resolution levels, from chromosome to single nucleotide, and of advanced technologies and methods used to study and analyse genetic diseases. To refine the student's ability to apply the acquired knowledge in real situations, practical exercises and problems will be proposed in the field of diagnostic and / or research in human molecular and medical genetics.
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 the different kind of genetic diseases (mendelian, complex, somatic) and of the individual variation to pharmacological treatment and of precision medicine, as well as of the different “-omic” techniques and methods (genomics, exomics, transcriptomics) used in genetic disease analysis at molecular level, such as sequencing or genotyping.

Syllabus

- Mendelian disease gene and mutation identification. Positional and functional cloning. Genetic markers, Linkage analysis, human gene mapping, sequencing. Linkage Disequilibrium. Identification of disease causing mutations.
- Study of Mendelian diseases: lessons from Thalassemia and Cystic Fibrosis.
- Modifier genes and complexity in single-gene disorders.
- 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).
- 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 of 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.
- 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, in the second part of the course, through frontal sessions covering the whole exam program and aimed at achieving the learning outcomes (12 lessons).
Prerequisite to this unit is the comprehension of concepts presented in the unit of Human Genetics.
Besides the reference texts, oral explanations will be coadiuvated by PowerPoint presentations. Summaries of these presentations, other additional didactic materials and possible updatings and communications, from both uints, 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 phone or 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
Strachan T. and Read A. Human Molecular Genetics (Edizione 5) Garland Science (CRC press) 2018

Assessment methods and criteria

The exam consists in a single oral discussion on the topics listed in the syllabus of both the units, and can be taken in one of the four available sessions, scheduled as follow: 2 in the Summer Session at the end of the teaching, 1 in Autumn Session, 1 in Extraordinary Session in Winter.
The student will have to demonstrate to possess an advanced comprehension of the teaching contents allowing the critic analysis and reprocessing of the studied notions and to know how to apply the acquired knowledge to distinguish the various types of inheritance, interpret pedigree and genetic data, interpret genomic and sequencing data, recognise the different mutations and genetic factors involved in genetic disease development, determine and analyse genetic frequencies in a population, determine the recurrence genetic risk, solving proposed exercises and exposing their arguments accurately, with clarity and using the appropriate scientific language.
At the end of the interview, a single global evaluation, expressed as a score out of 30, will be made considering the student's overall preparation on both units. A final mark of 18/30 is needed to pass the exam. All students will be tested for the same skills: content of the exam will be the same for attending and non-attending students.