- Docente: Elena Maestrini
- Credits: 9
- SSD: BIO/18
- Language: Italian
- Moduli: Elena Maestrini (Modulo 1) Marta Viggiano (Modulo 2)
- Teaching Mode: Traditional lectures (Modulo 1) Traditional lectures (Modulo 2)
- Campus: Bologna
- Corso: Second cycle degree programme (LM) in Health Biology (cod. 5729)
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from Oct 06, 2023 to Jan 22, 2024
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from Oct 02, 2023 to Dec 06, 2023
Learning outcomes
The aim of this course is to provide students with a general understanding of the principles and concepts of human genetics. Specific topics are: fundamentals of gene structure, human genome organization and expression; genetic variation and its functional and pathogenic consequences; molecular basis of single gene disorders and complex diseases; basic principles of DNA technologies and genetic testing. In addition students will get familiar with basic statistical methods for the analysis of biological data
Course contents
Module 1. Human genomics
- Introduction to human genetics: from Mendelian transmission to genomic medicine
- Fundamentals of gene structure, genome organization and expression
- Genetic variation: origin of DNA variation, types of genetic variants, small scale and structural variation, functional genetic variation and its pathogenic consequences.
- Single gene disorders: inheritance patterns, phenotype variability
- Allelic frequencies in populations: Hardy Weinberg equilibrium and its applications; how allelic frequencies change.
- Identification of human disease genes. Mapping and identification of genetic susceptibility to complex disease. The principles of genetic association and linkage disequilibrium mapping; genome-wide association studies.
- Next generation sequencing and its applications.
Module 2. Biostatistics
- Descriptive statistics
- Probability
- Distributions
- Populations, samples, standard errors, and confidence intervals
- Statistical inference: Hypothesis testing and P-value
- Correlation and linear regression
- Elements of epidemiology
Readings/Bibliography
The analysis of biological data, by Michael Whitlock and Dolph Schluter
Genetics and Genomics in Medicine, by Tom Strachan, Judith Goodship & Patrick Chinnery (Garland Science).
Teaching methods
The course consists of 9 CFUs organized as follows:
Module 1: 5 CFU of lectures and 1 CFU of practical laboratory exercises
Module 2: 1 CFU of face-to-face lectures and 2 CFU of computer classroom exercises
For learning purposes, attendance of lectures and of lab and computer practicals is recommended
All students (including all the international incoming exchange students, i.e. ERASMUS) must attend Module 1, 2 online [https://www.unibo.it/it/servizi-e-opportunita/salute-e-assistenza/salute-e-sicurezza/sicurezza-e-salute-nei-luoghi-di-studio-e-tirocinio ], while Module 3 on health and safety is to be attended in class. Information about Module 3 attendance schedule is available on the website of your degree programme ("studiare"--"formazione obbligatoria su sicurezza e salute").
Assessment methods
Written final exam
Teaching tools
Course materals (slide presentations and exercises) will be available on the Moodle web site
https://iol.unibo.it/
Access is restricted to Bologna Unversity students enrolled in the course
Office hours
See the website of Elena Maestrini
See the website of Marta Viggiano