- Docente: Elena Bonora
- Credits: 1
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: Single cycle degree programme (LMCU) in Medicine and Surgery (cod. 5904)
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from May 28, 2024 to May 31, 2024
Learning outcomes
Knowledge and skills to be achieved
At the end of the course, the student will have acquired 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, students will have developed some topics in genomics and post-genomics: the identification of disease genes, the Human Genome Project and the use of the human genome sequence in medical genetics. Finally, they will learn about next generation sequencing, its clinical applications and international databases with the information that can be obtained from them.
Course contents
At the end of the course the student has acquired the knowledge to understand the genetic mechanisms underlying hereditary diseases and the impact, indication and interpretation of genetic data with the use of new generation genomic technologies in the diagnosis and therapy of genetic diseases.
They will also be able to update themselves on scientific literature to continue their training in the field of genomic medicine.
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 databases 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
Readings/Bibliography
Recommended texts
- Human Molecular Genetics. Strachan Tom
- The Human Mitochondrial Genome: from basic biology to disease. Gasparre & Porcelli
Scientific articles and educational material will be provided during the lessons.
Teaching methods
Frontal teaching. Lecture slides will be provided at the end of each lesson.
Assessment methods
The exam at the end of the course aims to evaluate the achievement of the educational objectives. The final evaluation consists of an oral test on the program topics.
Teaching tools
Power Point presentations will be shown during the lessons. This teaching material will be made available to the student in electronic format.
Office hours
See the website of Elena Bonora