MEDICAL GENETICS
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.
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