Teaching code

4S000331

Credits

7

Coordinatore

Alberto Turco

Language

Italian

Moodle Seminars

The teaching is organized as follows:

Learning outcomes

MODULO BIOLOGIA APPLICATA Train the student to the biological terminology used for the description and discussion of fundamental experiments in biology; provide students with the basic information that allows the distinction among the different living being; to teach the student the characteristics of the cell and of the principal macromolecules that compose it. MODULO GENETICA MEDICA The Course will aim at giving the basics of human and medical genetics, in order to be able to understand the principles of transmission of normal and abnormal inherited traits, as well as the development of inherited biological variation. At the end of the course the student should be able to draw a human pedigree, to distinguish the various types of mendelian inheritance, to estimate the genetic recurrence risks of mendelian and complex disorders, to understand and interpret normal and abnormal human karyotypes, and to understand the ethical, social and medical issues relating to prenatal genetic testing. MODULO METODI E TECNICHE DI MICROBIOLOGIA learning outcomes: the aim of the module is to provide students with the knowledge of the basic techniques applied in Microbiology and the theoretical principles on which they are based. MODULO MICROBIOLOGIA Basic concepts of the world of microorganisms. Major differences among bacteria, viruses, fungi, protozoa and their role in the infections diseases. Characteristics of the various microorganisms and their structures. as agents of infectious diseases. Provide students with theoretical knowledge of the causes, pathogenetic mechanisms, microbiological diagnosis and infection control, to use the contents of lessons in subsequent courses

Program

Introduction to genomics. Numerology and paradoxes of the Human Genome. Mendelian inheritance in man. Symbology of family trees. Autosomal dominant inheritance with examples and characteristics: variable expressivity, incomplete penetrance, late onset, new mutation, mosaicism. Autosomal recessive heredity, genetic risks, healthy carriers, consanguinity, diaginic inheritance, recurrence risks, female bearer, lyonization. Clinical examples: Huntington, ACH, polycystic kidney, ectrodactyly, SMA1, albinism, PKU, Duchenne. Genral and medical cytogenetics. standard karyotype. Acrocentric. Chromosomal abnormalities of n. and structure. Aneuploidy ,. Trisomies. Prenatal genetic counseling. Cytogenomics. FISH and microdeletions: S. Wolf, S., Williams. aCGH. Prenatal and preimplantation diagnostics. PGD. Bioethical issues. ART. Embryo selection.

Bibliography

Examination Methods

Written test, 15 to 20 multiple choice questions. Optional oral test.