03553 - Medical Genetics

Learning outcomes

Upon completion of the course, the student will understand the main concepts related to the most common genetic diseases, with particular reference to those involving the oral cavity and those that make individuals directly or indirectly unable to perform oral hygiene practices. The student will have the knowledge to construct family trees and perform segregation analysis of a genetic disease, as well as an understanding of the exceptions to Mendelian inheritance, complex genetic diseases, and the methods for diagnosing a genetic disease.

Course contents

FROM CLINIC TO DISEASE GENE IDENTIFICATION

The path of research in Medical Genetics. Genetic counseling.

MOLECULAR INVESTIGATION TECHNOLOGIES

Genomic DNA and RNA extraction. Basic techniques: PCR, restriction enzymes, electrophoresis. DNA cloning.

THE HUMAN GENOME

The Human Genome Project and related projects. Human genome features.

CLASSIC AND MOLECULAR CYTOGENETICS

Chromosomes and the karyotype. Chromosomal mutations and clinical manifestations. Classical and molecular cytogenetic techniques.

DEFINITION OF HERITABLE DISEASES

Monogenic diseases. Causes of abolition of a gene's function. Autosomal dominant diseases, expressivity and penetrance, de novo mutations, germinal mosaicism. Autosomal recessive diseases. X-linked transmission and inactivation of the X chromosome. Recessive and dominant X-linked diseases. Y chromosome-related diseases.

Non-Mendelian inheritance. Mitochondrial diseases, maternal inheritance, heteroplasmy, threshold effect, random segregation, clinical manifestations, risk of recurrence. Imprinting and uniparental disomy. Dynamic mutations.

MOLECULAR DIAGNOSTICS

Molecular diagnosis of a genetic disease. Direct diagnosis. Indirect diagnosis. Consumer directed tests.

Readings/Bibliography

Course text:

"Elementi di Genetica Medica"

Maurizio Clementi

ed. Edises

Teaching methods

The course is structured in lectures (12 hours) in the classroom. Fundamental elements of Medical Genetics will be introduced. Articles and other material will be provided as additional readings for some of the topics covered.

Assessment methods

Students will be asked to make a presentation based on material provided.

Teaching tools

Additional material will be provided to supplement lectures. Scientific articles and additional material will be provided to students for further and optional reading.

Office hours

See the website of Emanuele Panza