71342 - GENETICA MEDICA 1

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