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

MENDELIAN GENETICS: Definition of Mendelian hereditable diseases. Autosomal and X-linked, dominant and recessive diseases. Definition, construction and analyses of pedigrees: evaluation of the recurrence risk for a genetic disease with class exercises. Problems inherent to pedigrees interpretation: variable expressivity, incomplete penetrance, late onset disease, genetic anticipation, germline mosaicism. Clinical examples of Mendelian diseases with explanation of molecular causes.

NON MENDELIAN GENETICS: Mitochondrial diseases. Polygenic (multifatorial) diseases and evaluation of empirical risk. Epidemiological studies and susceptibility curves. Genetic polymorphisms and liability.

CHROMOSOMAL PATHOLOGY: Chromosomal structural and numerical aberrations and clinical examples. Gametogenesis of balanced translocation carriers. Karyotype for the diagnosis of chromosomal aberrations.

Readings/Bibliography

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

Use of textbook is not compulsory: studying with the support of the teaching material is considered sufficient to acquire the concepts needed by the course.

Teaching methods

Lectures with PowerPoint presentations and classroom exercises on genetic risk assessment on pedigrees, as a mock exam.

Assessment methods

Written test.

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.

The final mark obtained for the medical genetics module will constitute 1/7 of the overall mark of the Course and will be therefore weigh-averaged with the marks in biology and biochemistry.

Teaching tools

Students will be provided with all presentations projected during the course, in electronic format through Virtuale.

On Virtuale, multiple choice quiz will be available to all students for self-evaluation, organized class by class, and with no limitation on the number of attempts.

Office hours

See the website of Giuseppe Gasparre