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

The examination for the Medical Genetics module is conducted orally and consists of a presentation on a disorder of the oral cavity assigned by the lecturer, followed by questions on the topics covered during the course.

The purpose of the oral examination is to assess the student’s ability to establish appropriate logical and deductive connections on the basis of the knowledge acquired during the course.

Final grade criteria

The final assessment will take into account both the student’s preparation demonstrated during the oral examination and the quality of the presentation. The following aspects will be evaluated: accuracy of content, ability to analyse topics critically and establish connections, clarity of presentation, command of scientific terminology, and ability to discuss and justify the choices made.

Any use of artificial intelligence tools must be informed, critical, and appropriately supervised. An uncritical or poorly considered use of AI—such as the unverified reproduction of content, the inclusion of inaccurate information, inconsistencies between the presentation and the oral discussion, or an inability to explain and critically rework the material presented—will negatively affect the assessment.

18–19: Preparation limited to a very small number of topics covered during the course; analytical skills demonstrated mainly with the lecturer’s assistance; generally appropriate use of language. Basic presentation, with limited depth or insufficient critical reworking of the content.

20–24: Preparation limited to a restricted number of topics; ability to analyse independently mainly procedural or straightforward issues; appropriate use of language. Clear but predominantly descriptive presentation, with limited critical analysis and ability to establish connections.

25–29: Good preparation across a broad range of topics; ability to make independent choices and develop critical analysis; good command of subject-specific terminology. Well-structured, scientifically accurate, coherent, and appropriately reworked presentation.

30–30 cum laude: Substantially comprehensive preparation; excellent ability to analyse critically, establish connections, and construct well-supported arguments; full command of subject-specific terminology and capacity for self-reflection. Effective, rigorous, and original presentation, supported by reliable sources and, where applicable, by the informed, transparent, and critically verified use of artificial intelligence tools.

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