66159 - Medical Genomics

Course Unit Page

Academic Year 2019/2020

Learning outcomes

The successful student is familiar with the mechanisms behind genetic disorders and the use of -omic approaches to improve diagnostic and therapeutic applications. The student is able to keep track of the scientific literature and the technological breakthroughs in medical genomics.

Course contents

Organization of the Human Genome
Human Genome Sequencing Projects
Human Genetic Variation, Comparative Genomics, Genome Evolution and their relevance for Human Health and Disease
DNA Sequencing Technologies and their applications in Medical Genomics
Mechanics of Genetic Disease
Genetic Architecture of Mendelian and Complex Diseases
Chromosomal Abnormalities and Structural Variants
Clinical Correlations - Genotypes to Phenotypes  
Strategies for the Identification of Genes underlying Rare and Common Disorders
Strategies for the Identification of Susceptibility Variants for Complex Diseases
Introduction to Cancer Genomics
Genetic Mapping through the Transcriptome and the Epigenome


Tom Strachan and Andrew Read, Human Molecular Genetics 5th Edition (2018) Garland Science. Barton Childs, Genetic Medicine - A Logic of Disease (1999) JHU Press. Selected articles from current scientific literature. Texts are not compulsory readings.

Teaching methods

Lectures with ppt presentation. Class discussion on studies from the scientific literature and hands-on-computer practical assignments.

Assessment methods

Oral Exam

Teaching tools

PPT slides and scientific literature.

Office hours

See the website of Tommaso Pippucci