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 and preconceptional diagnosis; 6) to know the recent progresses in developing therapeutic strategies for genetic diseases. 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.
Course Prerequisites
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.
Teaching Methods
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.
Assessment Methods
The exam can only be taken by those who have attended at least 75% of the lesson hours. Written exam lasting 45 minutes consisting of multiple choice questions (4 answer options, only one correct; no penalty for incorrect answers; one point each correct answer). Evaluation scale 0-31 (30 with honors). The result of the exam will be published on Esse3 (where the acceptance/refusal can be done by the student). Concerning the registering, the students have to enroll directly on their personal area. Only one final grade will be reported in the student’s curriculum, representing the weighted arithmetic mean between the grades obtained for all the exams of the integrated module.
Texts
Read, Donnai: New Clinical Genetics Harper: Practical Genetic Counselling WEB sites: OMIM; Gene Reviews
Contents
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. Common strategies for molecular diagnosis of genetic diseases. Significance and use of principal databases (sequence, population, disease databases). Prenatal and preconceptional testing. Basic concepts of therapy of genetic diseases.
Course Language
English
More information
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.