03553 - Medical 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

FROM CLINIC TO DISEASE GENES IDENTIFICATION

The path of genetic research. Genetic counseling.

 

THE HUMAN GENOME

The Human Genome Project. Human genome features: Coding and non-coding DNA, different kind of DNA sequences. The mitochondrial DNA.

Sequencing of the genome of model organisms.

 

MOLECULAR DIAGNOSTICS

Molecular diagnosis of a genetic disease. Direct diagnosis. Indirect diagnosis. Sanger sequencing and Next Generation Sequencing.

 

CLASSIC AND MOLECULAR CYTOGENETICS

Chromosomal mutations and clinical manifestations. Techniques to study chromosomes. Molecular cytogenetic techniques.

 

DEFINITION OF EREDITABLE DISEASES

Monogenic diseases. Causes of abolition of a gene function. Definition, construction and study of genealogical trees.Autosomal dominant and recessive diseases, X-linked recessive and dominant diseases, diseases linked 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 genes of susceptibility to complex diseases.

 

ONCOLOGICAL GENETICS

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

 

FUTURE PERSPECTIVES FOR GENE THERAPY

Therapies based on antisense oligonucleotides. The Gene Editing technology.

Readings/Bibliography

Course book:

"Elementi di Genetica Medica"

Maurizio Clementi

Edises editions

 

Consultation book:

“Genetica in Medicina”

Thompson &Thompson

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

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.

Teaching tools

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

Office hours

See the website of Emanuele Panza