03553 - Medical Genetics (A-K)

Learning outcomes

The course has the aim of illustrating both consolidated and novel knowledge in the field of Medical Genetics, also highlighting the transversal implications to all the medical areas. The course will enable the students:

• to draw pedigrees and to understand the inheritance pattern of genetic diseases
• to calculate the risk of recurrence of mendelian diseases
• to know atypical inheritance patterns
  
• to understand the principles underlying the genesis of multifactorial diseases
• to know how genetic testing is performed
• to be aware of the genetic predisposition to cancer
• to understand principles of clinical genetics and genetic counselling
  

Course contents

Mendelian disorders (typical patterns of inheritance and their exceptions; classification of variants and types of polymorphisms; Hardy-weinberg equilibrium)

Non-mendelian inheritance (imprinting disorders, mitochondrial inheritance, effect of lyonization on X-linked dirorders)

Multifactorial diseases (genetic bases of susceptibility, distribution in the population, empiric risk assessment, polygenic scores)

Choromosomal disorders (types and methods for detection: standard and molecular cytogenetics) 

Clinical genetics (fundaments of genetic counselling, types of genetic consultations)

Molecular diagnostics (classification of gene testing; gene sequencing methods; indirect diagnosis: linkage analysis)

Identification of novel disease genes: from linkage analysis to Next Generation Sequencing approaches

In order to help the student understanding how theoretical knowledge can be translated in clinical practice, several real-life clinical cases, proposed by the teacher and the students, will be presented and discussed. 

 

 

 

Readings/Bibliography

E.S. Tobias, M. Connor, M. Ferguson-Smith: Fondamenti di Genetica Medica. Ed. Pearson, 2014 (optional)

Online teaching modules in English: https://www.primarycaregenetics.org/?page_id=109&lang=en

Online teaching modules in Italian: https://www.primarycaregenetics.org/?page_id=900&lang=it

Teaching methods

Formal lessons, exercises, interactive clinical cases discussion

Assessment methods

During the oral test, the student will be required to assess a clinical case randomly selected from a pool, by using the information and the competences acquired during the course, including drawing the family pedigree according to the information provided, and calculating recurrence risks (calculator allowed).

Attention will be paid to the use of proper technical language and to the ability to explain the concepts clearly even for any future patients.

The mark obtained in the Medical Genetics test concurs to the final mark for the integrated course according to the proportion of credits. The final mark is discussed and decided by the whole commission at the end of the test day.

Teaching tools

In the course's virtual space, the students will find:

- The slides presented during the lessons and additional material (papers or video focussing on specific topics)

- Exercises and solutions with explanations

- Links to useful websites

- A Forum to share questions and answers

 

 

Office hours

See the website of Daniela Turchetti