2015/2016

2019/2020

DM270

MED/03 (GENETICA MEDICA)

DIPARTIMENTO DI MEDICINA MOLECOLARE

MEDICINA E CHIRURGIA (IN LINGUA INGLESE)

PERCORSO COMUNE

5°

Secondo Semestre (02/03/2020 - 05/06/2020)

1

8 ore di attività frontale

English

SCRITTO

VALENTE ENZA MARIA - 1 CFU

Concepts of normal and disease. From the gene to the phenotype. Types of heredity. Classical mendelian genetics. Stucture and functions of chromosomes, abnormalities of number and structure of chromosomes. Dinamic mutations. Mitochondrial genetics. Concepts of epigenetics. Pedigree drawing.

1) to recognize a genetically determined disorder; 2) to correctly evaluate the model of inheritance of a disease; 3) to know the principal indications to genetic testing, be able to select the most appropriate genetic tests and to correctly interpret positive, negative and ambiguous results; 4) to know the basics of genetic counseling; 5) to be able to manage the reproductive problems of a family, including prenatal diagnosis. At the end of the course, the student will be able to autonomously manage the issues related to the presence of a genetically determined disease in a family, and be active part, in collaboration with other specialists, in the diagnostic procedure and the correct planning of strategies to prevent a genetic disease.

Genetic counselling and genetic testing. Types of genetic testing, indications, practical issues, interpretation of positive, negative and ambiguous results. Risk calculations for mendelian and chromosome disorders. Counselling in prenatal and preconceptional diagnosis.

Lectures; all topics will be presented with practical examples of genetic diseases, with clinical details and videos of patients. Interaction between teacher and students will be encouraged.

Read, Donnai: New Clinical Genetics
Harper: Practical Genetic Counselling
WEB sites: OMIM; Gene Reviews

written exam with multiple choice questions

The possibility of attending genetic clinics is offered to a limited number of students.
There is also the possibility to prepare the graduation thesis in Medical Genetics for 1/2 students /year.