to be enrolled in the 6th year of the Medical School; to have a good knowledge of human anatomy and physiology; to know main mechanisms involved in development of diseases; to be familial with diagnostic methods: clinical methods, laboratory methods, imaging; to know main human diseases including cancer; to know the biological basis of therapies; To know the main topics in Human Genetics: DNA and its function; gene and chromosome mutations; mechanisms of inheritance; to be familial with human karyotype
Educational targets include: to enable the student to recognize when a disease has a genetic cause, to recognize the model of inheritance (autosomal dominant or recessive, X-linked); to decide the genetic tests which are appropriate for confirming the diagnosis of the disease under study; to provide genetic counseling (to be alert to psychological and social problems) ; to learn how develop a good collaboration with the clinician who is in care of the patient; to learn how to deal with reproductive options of the family, including prenatal diagnosis.
As a result of learning the topics discussed, we expect that the 6th year student, who will start working in hospitals or as general practitioner in few months, will be able to manage inependently the problems related to the presence of a genetic disorder in a family; to take initiatives, in collaboration with other colleagues, in the general diagnostic work, in the activities needed for prevention of genetic diseases (starting from suggesting clinical controls in pre symptomatic subjects and ending with prenatal diagnosis) to apply the models of near future medicine as precision medicine and personalized medicine.
The program will include the following topics: 1- examples of genetic couselling derived from personal experience of the teacher; 2- a monogenic disorder to be used as a model for mendelian inheritance (from the gene to therapy); 3- diseases related to chromosomal abnormalities; 4- genetics of a malformation. 5- developmental delay. 6-cancer and genetics.
Lectures; all topics will be presented as clinical problems (about genetic diseases) that they will face in their work and for which they must find a solution; Interaction between teacher and students will be encouraged. At the end of each lesson the teacher will illustrate the content of next lecture so that students may read in advance about the topic.
New Clinical Genetics, by Andrew Read, Dian Donnai
Practical Genetic Counselling 7th Edition: Peter S. Harper:
oxford desk reference clinical genetics
WEB sites: OMIM; Gene Reviews; UCSC;
written exam with true or false questions
he possibility of shadowing genetic couselling is offered to a limited number of stuents.
there is also the possibility to write the graduation thesis in Medical Genetics for 1/2 students /year.