03553 - Medical Genetics

Course Unit Page

SDGs

This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.

Good health and well-being

Academic Year 2021/2022

Learning outcomes

At the end of the module, students will know the principles of inheritance and will be familiar with the study of genealogical trees with the occurrence of specific genetic diseases. Students will also be able to understand the mechanisms involved in the etiopathogenesis of genetic diseases and to identify situations that complicate Mendelian inheritance.

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.

DEFINITION OF COMPLEX GENETIC DISEASES

Quantitative and semi-quantitative characters. Evaluation of the genetic component in complex genetic diseases.

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

 

Further reading (optional):

“Genetica in Medicina”

Thompson &Thompson

ed. Edises

Teaching methods

The course is structured in lectures (12 hours) in the classroom. Fundamental elements of Medical Genetics will be introduced. The lectures will be followed by a part of the lesson dedicated to solving quizzes and exercises. Articles and other material will be provided as additional readings for some of the topics covered.

Assessment methods

The verification of learning takes place through the final exam, which ascertains the acquisition of the knowledge and skills expected for the courses of Biology, General Genetics and Medical Genetics. The exam will be a written test that can take place, based on restrictions and need to maintain social distancing dictated by the COVID-19 emergency, in two ways. The exam mode will be decided by the teachers based on the dynamic evolution of this situation.

Method 1: written test lasting 1 hour and 30 minutes. The test is based on quizzes with multiple choice answers and open-ended questions for a total of 32 questions divided as follows: 16 questions concerning Biology, 8 questions concerning General Genetics and 8 questions related to Medical Genetics topics. Each correct answer is evaluated one point. The exam is passed if the student has acquired a minimum score of 18 points and has correctly answered at least 8 questions of Biology, 4 of General Genetics and 4 of Medical Genetics.

Method 2: oral exam in telematic mode through the Teams platform. In this test, students will be asked open questions with short answers. The criteria for passing the test will not change.

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