03553 - Medical Genetics

Learning outcomes

The student will acquire the principles of heredity, will become confident in sketching and interpreting family trees in which genetic diseases recur, will become able to understand mechanisms involved in the etiology of genetic diseases or with a genetic basis, and identify situations that complicate Mendelian heredity.

Course contents

Medical Genetics: Definition of hereditable diseases; monofactorial and complex diseases. Definition, construction and analyses of pedigrees: evaluation of the recurrence risk for a genetic disease. Problems inherent to pedigrees interpretation: variable expressivity, incomplete penetrance, late onset disease, genetic anticipation, germline mosaicism. Clinical Cytogenetics: chromosomal stuructural and numerical aberrations and clinical examples. Genetic Diagnosis: Molecular diagnosis of a genetic condition. Caryotype analysis. Prenatal genetic diagnosis. Clinical Genetics: principles and different types of genetic counselling. Cancer genetics: oncogenes and tumor suppressor genes. Genetic predisposition to cancer.

Readings/Bibliography

Campbell e Reece: Biologia e Genetica, ed Pearson 2012 (capitolo 18)
Tobias, Connor, Ferguson-Smith: Fondamenti di Genetica Medica. Ed. Pearson.

Teaching methods

Lectures with ppt slides. Class exercise.

Assessment methods

Written test with exercises and open questions.

The examination consists of an exercise for the assessment of disease risk in a pedigree (16 points maximum) and two open questions on theoretical aspects (7 points maximum each).

Use of calculator is neither necessary nor permitted.

Teaching tools

Students will be provided with ppt slides

Office hours

See the website of Giuseppe Gasparre