84933 - Human Genomics and Biostatistics

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 Genomics

DNA, RNA, and Gene Structure

• DNA: structure and replication

• RNA: structure, transcription, translation

• Non-coding RNA

• Gene structure

The Human Genome

• Human genome project

• Organization of the human genome

• Evolution of the human genome

DNA Study Technologies

• DNA cloning and PCR

• Hybridization assays

• DNA sequencing

Genetic Variability

• Origins of genetic variability

• DNA variants

• Protein polymorphism

• Genetic variability of the immune system

Monogenic Diseases

• Mendelian inheritance models

• Variation in Mendelian phenotypes

• Allelic frequencies in populations

Gene Regulation and Epigenetics

• Genetic regulation of gene expression

• Epigenetic factors in gene regulation

• Epigenetic regulation anomalies

Diseases Caused by DNA and Chromosome Anomalies

• Pathogenic nucleotide substitutions

• Pathogenic mutations from repetitive DNA

• Chromosomal anomalies

• Molecular pathology

Identification of Disease Genes

• Identification of genes in monogenic diseases

• Genetic susceptibility

• Environmental and epigenetic factors

Genetic Testing

• Genetic testing for chromosomal abnormalities

• Genetic testing for small mutations

• Applications of genetic testing

Genetic Approaches in Disease Treatment

• Drugs and therapeutic proteins

• Gene therapy

• Genomic editing

Cancer Genomics

 

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
• Non-parametric distributions
• Elements of epidemiology
• Genetic and genomic databases

Module 3. Lab Practicals

Readings/Bibliography

• Genetics and Genomics in Medicine, by Tom Strachan, Judith Goodship & Patrick Chinnery (Garland Science).
• Human Molecular Genetics. Tom Strachan, Andrew Read. Fifth Edition (CRC Press, Garland Science) 2019.
  

• The analysis of biological data, by Michael Whitlock and Dolph Schluter.

Teaching methods

The course consists of 9 CFU :

Module 1: 5 CFU of frontal lectures

Module 2: 1 CFU of frontal lectures and 2 CFU of computer classroom exercises

Module 3: 1 CFU laboratory practicals

 

As concerns the teaching methods of this course unit, 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 Francesco Chemello

See the website of Elena Bacchelli