MEDICAL GENETICS

Degree course: 
Corso di Long single cycle degree (6 years) in Medicine and Surgery
Academic year when starting the degree: 
2015/2016
Year: 
5
Academic year in which the course will be held: 
2019/2020
Course type: 
Compulsory subjects, characteristic of the class
Credits: 
2
Period: 
Second semester
Standard lectures hours: 
16
Detail of lecture’s hours: 
Lesson (16 hours)
Assessment: 
Voto Finale

1 . Genetic consultation : frequency and prevalency and importance of the genetic disease in the assistence of the patient.
2. Monogenic disease, formal genetics , genetics and biochemerstry, molcular genetics, diagnostic tools and mocelular techniques.

3. Immunogenetics, farmacogenetics, developmental genetics, population genetics. Analytical tools for the study.

4. The genetic basis of multifactorial disease and tools for the study.
5. Medical cytogenetics , phenotype genotipe correlation. Gene dosage and molecular cytogenetics. Tools for the studies.
6. Genetics and tumors. Molecular pathogenesis of the neoplasia and practical approches .
7. the prevention of the genetic disease.
8. Clinical genetics: part of the course will be dedicated to clinical cases of monogenic disease, multifactorial, and chromosomic disease with the description of the strategies to prevent them and to elaborate a genetic consultation.

- Rimoin, Connor, Pyeritz, Korf: Emery and Rimoin’s essential medical genetics. Academic Press, 2013
- Gelehrter, Collins, Ginsburg: Principles of medical genetics. 2a ed. Ed. Williams & Wilkins, 1998
- Strachan, Read: Human molecular genetics. 4a ed. Ed. Garland Science, 2011
- Strachan, Read: Genetica umana molecolare. 3a ed. Ed. UTET, 2007
- Harper: Practical genetic counselling. 8a ed. Ed. Taylor & Francis Group, 2014

Additional learning materials like the slides shown during the course are available to the students

The course is based on taught classes asking the students for tan important partecipatin.
The topics exposed by the teacher during the first class class will be summarized by the students the next class in order to invite the students to an active participation to the course.
Practical experience are available to the students during the laboratoties of cytogenetics and molecular genetics.

To arrange an appointment with the teacher ask at: giovanni.porta@uninsubria.it

Professors

Parent course