78885 - Genetics

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 the Mendelian inheritance.

Course contents

CLASSIC AND MOLECULAR CYTOGENETICS

Chromosomal mutations and examples of clinical manifestations. Techniques to study chromosomes. Classical and molecular cytogenetic techniques.

 

DEFINITION OF EREDITABLE DISEASES

Monogenic diseases. Cause of abolition of function of a gene. Dominant autosomal diseases, penetrance and variable expressivity, de novo mutations. Autosomal recessive diseases. X-linked transmission and inactivation of the X chromosome. X-linked recessive, dominant diseases and diseases related to the Y chromosome.

Non-Mendelian inheritance.

Mitochondrial diseases, maternal inheritance, heteroplasmy, threshold effect, random segregation, clinical manifestations, recurrence risk.

Imprinting and uniparental disomy. Dynamic mutations.

 

DEFINITION OF COMPLEX GENETIC DISEASES

Quantitative and semi-quantitative characters, identification of susceptibility genes.

 

MOLECULAR TECHNIQUES

Molecular diagnosis of a genetic disease. Direct diagnosis. Indirect diagnosis.

 

ONCOLOGICAL GENETICS

Cancer as genetic disease. Oncogenes, tumor suppressor and modifying genes. Tumors with hereditary predisposition.

 

CLINICAL GENETICS

Genetic counselling, methodology, familial analysis.

Readings/Bibliography

"Elementi di Genetica Medica"

Maurizio Clementi

ed. Edises

Teaching methods

The course is structured in lectures (12 hours) in the classroom in which the fundamental elements of Medical Genetics are 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

Nursing program:

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, through a 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 concerning Biology topics, 8 concerning general Genetics topics and 8 questions related to Medical Genetics topics. One point is gained for each correct answer. The exam is considered passed if the student has acquired a minimum score of 18 points in the written test and has correctly answered at least 8 questions of Biology, 4 of General Genetics and 4 of Medical Genetics.

 

Health Assistant:

The verification of learning takes place through the final exam, which ascertains the acquisition of the knowledge and skills expected for the courses of Medical Genetics, through a written test lasting 1 hour. The test is based on quizzes with multiple choice answers for a total of 12 questions. Three points are gained for each correct answer. The exam is considered passed if the student has acquired a minimum score of 18 points.

 

Teaching tools

Scientific articles and additional material will be provided to students for further reading.

Office hours

See the website of Emanuele Panza