To show the organization of the course that includes this module, follow this link:  Course organization

Learning outcomes

The course aims at provide the basic knowledge of cell biology and human genetics, through the acquisition of the fundamental concepts of biology, functional and molecular principles of cellular processes common to all living organisms, mode of transmission of hereditary characters and molecular basis of genetic diseases, while developing the ability to use an appropriate scientific language. During the course, human biology aspects of particular biomedical and physiotherapist interest will be highlighted.
Upon successful completion, students will have acquired the necessary skills to understand and describe the basic mechanisms that regulate life, cell reproduction, interactions between cells and to grasp the pathogenic meaning of their alteration, as well as being able to recognize the different modes of transmission of human genetic diseases.

Program

Characteristics of the living beings. Major themes and fundamental concepts of biology. Origin of life. Cell Theory. Biological kingdoms and domains. Evolution and Natural Selection.
Water: characteristics and biological importance.

Eukaryotic and prokaryotic cell and viruses: common features and differences. Endosymbiotic theory and evolution from prokaryotes to eukaryotes to multicellular organisms. Structure, function and organization of the cell: main characteristics and functions of organelles and cytoskeleton. Role of internal compartmentalization.

Biological membrane: structure, properties and function. Movement of molecules across cell membranes: passive (osmosis, simple diffusion, facilitated diffusion) and active transport (primary and secondary; exocytosis and endocytosis). Cell junctions.

Cell communication and signaling pathways: Signal Reception: ligands and receptors. Signal Transduction: second messengers, signaling cascade and message amplification. Cellular responses.

The human genome: Organisation of DNA in chromosomes. Structure and organisation of chromosomes. Nucleosomes and packed chromosome. Euchromatin and Heterochromatin.

Cell cycle: definition, significance of the phases and regulation. Hints about cell death and staminal cells.
Cell division. Asexual reproduction and Mitosis. Sexual reproduction and meiosis. Crossing-over. Human gametogenesis.

Chromosomal bases of inheritance: Autosome and sexual chromosomes. Dosage compensation and X inactivation in Mammals. Normal and pathological human karyotype. Structural and numerical chromosomal abnormalities.

Molecular bases of inheritance. DNA: structure, function, replication and its role in heredity. Definition of gene. Informational pathway: transcription, RNA processing (splicing), genetic code, RNA translation and protein synthesis. Hints about regulation of gene expression in eukaryotes.
DNA mutation. Different classes of mutations. Spontanous mutations. Mutations induced by chemicals or physical agents. DNA repair mechanisms. Somatic mutations and cancer.

Mendelian genetics and Heredity. Definition of phenotype, genotype, locus, gene, allele, domin ant, rtecessive, homozygote and heterozygote. Mendel’s laws. Allele segregation and independent assortment of genes. Gene – chromosome relationship: independence and association; genetic recombiantion. Genetics of AB0 and Rh blood groups.

Modes of transmission of genetic information. Inheritance patterns: autosomal (dominant and recessive) and sex-linked (dominant and recessive) inheritance. Introduction to transmission of complex characters. Hereditary and genetic diseases. Examples. Exceptions to Mendelian inheritance: penetrance, expressivity, incomplete dominance and codominance, multiple alleles, epistasis, polygenic characters, mitochondrial inheritance, environmental influence.

Attendance to lessons is mandatory, as specified on the teaching regulation. The course will be delivered through frontal lessons covering the whole exam program and aimed at achieving the learning outcomes of the course.
Students can use one of the recommended reference text-books, at their own choice. Further insights may be added to the teaching webpage on the university e-Learning platform, throughout the course.
During the whole Academic Year, students may request personal reception to the teachers, by e mail or phone.

Examination Methods

Students will be examined on the range of topics listed in the syllabus. The assessment involves a written test, consisting of both multiple-choice and open-ended questions. In order to gain access to the biology test, students must have first discharged any training debts relating to the minimum biology knowledge.
To pass the exam, students shall demonstrate to possess the comprehension and the knowledge of the topics covered in the course, skills of reasoning and personal re-elaboration of notions, accuracy and ability to focus the argument posed by the open-ended questions responding synthetically, exposing their arguments accurately, with clarity, critical evaluation and using the appropriate scientific language.
The test will be considered passed if the student gain a minimum score of 18/30 and will remain valid during the whole Academic Year (i.e., no later than the autumn session).