- Docente: Fabiola Ceroni
- Credits: 9
- SSD: BIO/18
- Language: Italian
- Moduli: Fabiola Ceroni (Modulo 1) Daniele Mercatelli (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)
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, principles of gene regulation and epigenetics.
- Genetic variation: origin of DNA variation, types of genetic variants, small scale and structural variation, functional genetic variationand its pathogenic consequences. Single gene disorders: inheritance patterns, phenotype variability
- Allelic frequences 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 disequilibirum mapping; genome-wide association studies.
- Next generation sequencing and its applications Elements of molecular genetic testing.
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
Lectures with powerpoint presentations; in class problem solving and exercise
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 Fabiola Ceroni
See the website of Daniele Mercatelli