- Docente: Emanuele Panza
- Credits: 1
- SSD: MED/03
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Forli
- Corso: Single cycle degree programme (LMCU) in Medicine and Surgery (cod. 5905)
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from May 29, 2023 to Jun 01, 2023
Learning outcomes
By 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, lod score calculation, association studies. He will also have developed some Genomics and post-genomics topics: identification of disease genes, the Human Genome Project, and the use of human genome sequence in medical genetics. Finally, he will learn about next-generation sequencing, its clinical applications, and international databases with the information that can be derived from them.
Course contents
Human Genome Projects and Model Organisms
Structural variants and the Array CGH technology
Next-generation sequencing and clinical applications
Databases
Identifying the genetic basis of human diseases
DNA markers and mapping of genetic diseases
Lod score calculation and linkage analysis
Linkage disequilibrium
Association studies (GWAS, TDT)
Disease gene identification: from functional cloning to positional cloning
Candidate gene approach by position
WES and WGS as strategies to identify disease genes
Readings/Bibliography
Thomson and Thomson
"Genetica in Medicina"
Edises
Teaching methods
The course is structured in lectures (8 hours) in which the basic aspects of Medical Genetics are presented.
Assessment methods
Verification of learning will be by oral examination. The grade obtained in the subject Medical Genetics will average with the grade of the other modules of the integrated course to obtain the final grade.
Teaching tools
Materials will be provided to supplement the lectures. Scientific articles and other material for optional further study will also be provided.
Office hours
See the website of Emanuele Panza