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 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.

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

Learning outcomes are assessed through a final examination designed to verify the acquisition of the knowledge and skills expected for the Biology, General Genetics, and Medical Genetics modules. The examination consists of a one-hour written test.

The test includes multiple-choice questions and open-ended questions, for a total of 32 items distributed as follows: 16 questions on Biology, 8 questions on General Genetics, and 8 questions on Medical Genetics. Each correct answer is worth one point.

The examination is considered passed if the student obtains a minimum score of 18 points in the written test and answers correctly at least 8 Biology questions, 4 General Genetics questions, and 4 Medical Genetics questions.

The final grade for the Integrated Course will be calculated as a weighted average of the grades obtained in the individual examination modules.

Students with specific learning disorders or temporary or permanent disabilities are encouraged to contact the dedicated University service as early as possible: https://site.unibo.it/studenti-con-disabilita-e-dsa/en/for-students

Requests for appropriate accommodations must be submitted to the lecturer in advance, no later than 15 days before the examination date. The lecturer will assess the suitability of the proposed measures in relation to the learning objectives of the course.

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