Anno Accademico 2023/2024

  • Docente: Caterina Garone
  • Crediti formativi: 2
  • SSD: MED/03
  • Lingua di insegnamento: Inglese
  • Modalità didattica: Convenzionale - Lezioni in presenza
  • Campus: Bologna
  • Corso: Laurea Magistrale a Ciclo Unico in Medicine and Surgery (cod. 9210)

Conoscenze e abilità da conseguire

Discuss the impact of human genome projects on genetic medicine. Identify the major categories of genetic disorders, and describe differences in their etiology and inheritance pattern. Reconstruct family pedigrees, and apply the principles of mendelian inheritance and population genetics to estimate the risk of recurrence of a monogenic disease. Describe the impact of variations to Mendelian inheritance on the clinical presentation of inherited disorders. Identify the clinical manifestations and etiology of selected genetic conditions, through critical analysis of clinical cases. Define the role of genetic counselling in the management of inherited diseases.


Genetic disorders

  • classes of genetic disorders
  • genetic counselling: indications, purpose, pedigree reconstruction
  • genetic testing: indications, purpose, methodologies (review)
  • genetic variation and terminology (review)
  • online resources

Mendelian inheritance and risk assessment

  • Mendelian inheritance patterns
  • Hardy-Weinberg principle and carrier frequency
  • Bayes theorem
  • Calculation of risk of recurrence in recessive pedigrees

Irregularities of mendelian inheritance

  • de novo mutations and mosaicism
  • incomplete penetrance
  • variable expressivity
  • anticipation in triplet repeat disorders
  • genetic heterogeneity - locus and allelic
  • clinical heterogeneity and allelic disorders
  • pseudoautosomal inheritance of X-linked traits
  • male lethality in X-linked pedigrees
  • skewed X-inactivation
  • oligogenic inheritance

Mendelian disorders

  • achondroplasia
  • Huntington disease
  • cystic fibrosis
  • Duchenne and Becker muscular dystrophies

Genomic imprinting and UPD

  • Prader-Willi syndrome and Angelman syndrome

Mitochondrial inheritance

  • mitochondrial DNA
  • maternal inheritance pattern
  • irregularities of maternal inheritance: heteroplasmy/homoplasmy, mitochondrial threshold effect, mitochondrial bottleneck
  • mitochondrial disorders

Disorders of genomic imprinting and UPD

  • Prader-Willi Syndrome, Angelman Syndrome

Multifactorial disorders

  • multifactorial inheritance
  • genetic susceptibility and liability threshold model
  • family studies: familial aggregation, twin concordance, adoption studies
  • population studies: association, GWAS, linkage disequilibrium, common disease-common variant hypothesis


  • Thompson and Thompson Genetics in Medicine, 8th Edition (2015). Robert L. Nussbaum, Roderick R. McInnes, and Huntington F. Willard. Elsevier.
  • Medical Genetics, 6th Edition (2019). Lynn B. Jorde, John C. Carey, Michael J. Bamshad. Elsevier.
  • Emery's Elements of Medical Genetics and Genomics 16th Edition (2021). Peter D Turnpenny, Sian Ellard, Ruth Cleaver. Elsevier.
  • Articles/reviews on selected topics provided by the professor.

Metodi didattici

Teaching/learning methods include:

  • lectures supported by PowerPoint presentations
  • problem-based learning: human genetics problems to be solved in class with active student participation

Modalità di verifica e valutazione dell'apprendimento

Students' knowledge and understanding of medical genetics will be assessesed and graded as a component of the Integrated Course (I.C.) in Pediatrics.

Learning assessment will be carried out in two steps and graded on a 30 point scale:

1) Written assessment: each student is asked to write a synopsis of a genetic disorder chosen from a list that will be provided; the synopsis must be submitted one week prior to the exam session published in AlmaEsami for Pediatrics (I.C.). Detailed instructions will be provided in class.

The written assessment will contribute 50% of the Medical Genetics grade, according to the following criteria:

5 points - depth and breadth of content; student has explained the major genetic characteristics of the disorder, and has researched and cited relevant sources

5 points - accuracy, correct use of terminology

5 points - organization; student has been able to intergrate information from different sources and construct a logical, clear, concise synopsis.

2) Oral exam: the student will be asked to discuss the content of the written synopsis and/or answer relevant questions on the chosen disorder in order to demonstrate understanding of the topic. In addition, the student will be asked to resolve a medical genetics problem (e.g. interpret a pedigree or other clinical scenario, assess the risk of recurrence, caculate carrier frequency).

The oral exam will contribute 50% of the medical genetics grade according to the following criteria:

10 points - synopsis discussion

5 points - problem solving

The oral exam will be held on the date of the Pediatrics I.C. exam session published in AlmaEsami. Students must first submit the synopsis in order to take the oral assessment.

The final grade awarded for the intergrated course will be based on the student's achievement in all learning activities that make up the integrated course. Honors (Lode) may be assigned for outstanding achievement, at the discretion of the examining commission.

Strumenti a supporto della didattica

The following material will be available online through Virtuale:

  • pdf files of all lectures
  • selected articles/reviews on relevant topics

Orario di ricevimento

Consulta il sito web di Caterina Garone