65644 - Human Genetics

Learning outcomes

By the end of the course the student knows the analysis of the human genome and the molecular basis of genetic disorders. In particular, the student learns the main approaches for the genetic analysis of Mendelian and complex traits (linkage analysis, association), the elements of molecular pathology and epigenetic mechanisms, the main bioinformatics tools for the analysis of the human genome and some common techniques used in the laboratory.

Course contents

Introduction to genetics

The basis of heredity: Mendel's laws; monohybrid crosses (dominance and segregation); dihybrid crosses (independent assortment); Predicting the outcome of genetic crosses

Structure and replication of DNA: DNA double helix

Gene expression; the central dogma: From DNA to RNA, from RNA to protein. Transcription, translation; the genetic code.

The eukaryotic cell cycle, cell division, mitosis and meiosis and the transmission of chromosomes

Chromosome theory of inheritance

Sex determintion and sex-linked inheritance; Dosage compensation in mammals

Genetic analysis of human traits: basic Mendelian pedigree patterns; complications to the basic pedigree patterns; Extensions and modifications of basic mendelian principles

Genetic variability; mutation and polymorphisms; types of genetic variants; point mutations and their consequences; Structural genomic variation; copy number variation; genotype/phenotype relationship

Organization of the human genome: Genome projects and sequencing 

Introduction to complex traits: Heritability and Mapping complex traits

Readings/Bibliography

Recommended Book

-Hartwell/Goldberg/Fischer/Hood. "Genetics: From Genes to Genomes". Sixth Edition, McGraw-Hill Education

Teaching methods

Lectures with powerpoint presentations; problem solving and exercises

Assessment methods

Final written exam including multiple choice questions and problem solving.

The final assessment verifies the candidate's skill on the topics discussed during the course.

Teaching tools

The slides and the excercises presented during the lessons will be made available to students through the virtuale website

Office hours

See the website of Elena Bacchelli