Academic Year 2023/2024

  • Teaching Mode: Traditional lectures
  • Campus: Bologna
  • Corso: Single cycle degree programme (LMCU) in Medicine and Surgery (cod. 5904)

Learning outcomes

At the end of the course, the student should have learned the basic concepts for genetic analysis in humans: risk calculation, linkage analysis, genetic markers and mapping of genetic diseases, calculation of lod scores, association studies. Furthermore, the student will have explored genomics and post-genomics topics: the identification of disease genes, the Human Genome Project and the use of the human genome sequence in medical genetics. Finally, the next generation sequencing, its clinical applications and the international databases with the information that can be obtained from these generations will be provided to the students.

Course contents

- Principles of Genetics and Medical Genomics

- Mechanisms of Genetic Diseases Methods of identification of genes in rare diseases

- aCGH / aSNP, Whole Exome Sequencing, Whole Genome Sequencing (nDNA and mtDNA)

- Human Genomic Variation: types, reference database and relevance to human health

- Clinical Classification of Genomic Variants: principles, recommendations and reference database

- Application of other "omics" in the diagnosis of genetic diseases

- Application of Genomic Data in Precision Medicine


- Human Molecular Genetics. Strachan Tom

- The Human Mitochondrial Genome: from basic biology to disease. Gasparre & Porcelli

Teaching methods


Assessment methods

The final exam aims to evaluate the achievement of the didactic objectives. The final evaluation consists of an oral test on the topics of the program.

Teaching tools

Power Point presentations will be projected during the lessons. This didactic material will be made available to the student in electronic format.

Office hours

See the website of Caterina Garone