71342 - Medical Genetics 1 (AK)

Learning outcomes

Following completion of the Medical Genetics 1 course, the student: understands the molecular alterations underlying genetic diseases; is able to identify pathogenic variants in accordance with international guidelines by analyzing familial segregation and utilizing omics databases; and understands strategies for identifying disease-causing genes, including the use of new sequencing technologies.

Course contents

Introduction to medical genetics.

Monogenic diseases. Autosomal dominant inheritance, expressivity and penetrance, de novo mutations, germline mosaicism. Autosomal recessive inheritance. Sex-linked inheritance. X-chromosome inactivation. Non-Mendelian inheritance: mitochondrial inheritance, maternal inheritance, heteroplasmy, threshold effect, random segregation, clinical manifestations. Dynamic mutations.

From definitions of mutation and polymorphism to the concept of a variant. ACMG criteria for classifying genetic variants. Nomenclature of major DNA, RNA, and protein variants. DNA polymorphisms as genetic markers.

Structural variants and methods for their identification (Array-CGH, SNP-array). The human reference genome. Databases. Genome sequencing projects for model organisms and their utility in medical genetics. Use of model organisms to study genetic diseases.

Sequencing technologies. Sanger sequencing: reaction setup and interpretation of electropherograms. Next-generation sequencing (second and third generation): steps for reaction preparation and analysis. Sequencing strategies (multigene panels, Mendeliome, Whole Exome Sequencing, Whole Genome Sequencing). Transcriptome analysis and the use of disease-specific methylation profiles for diagnostic purposes.

Identification of disease genes. From functional cloning to positional cloning. Mapping of genetic diseases. LOD score calculation and linkage analysis. Next-generation sequencing analysis pipelines and clinical applications.

Readings/Bibliography

Suggested textbooks:

Neri G., Genuardi M. GENETICA UMANA E MEDICA - V EDIZIONE or

Strachan T., Read A. Genetica molecolare umana

Teaching methods

Lectures in presence. Online readings based on materials provided by the teachers (e.g., genomic data analysis using free software).

Assessment methods

Assessment and grading


The final examination is designed to assess the achievement of the course learning objectives, namely the acquisition of the fundamental concepts of Immunology, Medical Genetics, Genetic Pathology, and Molecular Oncology. The examination aims to evaluate students’ ability not only to recall core knowledge but also to apply it appropriately and to integrate concepts through logical and critical reasoning.


Assessment for the Integrated Course in Immunology and Molecular Pathology consists of a written examination and an oral examination.

The written examination covers the Immunology component.

The oral examination covers the Molecular Pathology and Medical Genetics components.





The two examinations may be taken in separate examination sessions. A passing grade (≥18/30) obtained in either examination remains valid for one calendar year.





To pass the integrated course, students must obtain a passing grade in each of the following components:


Immunology (5 ECTS credits)


Medical Genetics (1 ECTS credit)


Molecular Pathology: Genetic Pathology (2 ECTS credits)


Molecular Oncology (3 ECTS credits)





The final grade is calculated as the weighted average (based on ECTS credits) of the four component grades. A grade of 30 in all four components results in a final grade of 30 with honors (30 cum laude).





Students with specific learning disabilities (SLD) or temporary or permanent disabilities are encouraged to contact the University's Disability and Specific Learning Disabilities Office well in advance (https://site.unibo.it/studenti-con-disabilita-e-dsa). The Office will propose appropriate accommodations, which must be submitted to the course instructors for approval at least 15 days before the examination. Approval will be granted taking into account both the student's needs and the course learning objectives.





Final Grade Scale


Fail (<18/30): Inadequate preparation, characterized by significant gaps in knowledge and serious, repeated conceptual errors.


18–19/30: Adequate knowledge of the fundamental concepts without major deficiencies. Overall acceptable presentation and use of scientific terminology.


20–24/30: Sound knowledge of the fundamental concepts. Partial ability to analyze and integrate information independently. Clear presentation and appropriate scientific language.


25–29/30: Good to very good preparation, or excellent preparation with minor inaccuracies in presentation that prevent the highest grade. Ability to analyze and integrate concepts independently. Logical organization of concepts and good command of scientific terminology.


30–30 cum laude: Comprehensive, well-established, and accurate knowledge of all course topics. Excellent ability to frame and discuss scientific issues, analyze and integrate concepts independently, and present information clearly with complete mastery of the appropriate scientific terminology.

Office hours

See the website of Elena Bonora