15950 - Biology and Genetics

Academic Year 2023/2024

Learning outcomes

Biology: at the end of the course the student is able to relate the main functions of the cell with its structure. The student knows the cellular processes and has expertise on aspects of regulation: gene regulation and the main mechanisms that govern the differentiation and cellular specialization, regulation of motility, the concepts of communication between cells, cell cycle and apoptosisregulation. Also in the study of human reproduction he knows the regulatory aspects. The student is able to apply the concepts learned to deal with biomedical problems related to regulatory mechanisms and their possible alteration.
Genetics: at the end of the course, the student has acquired: the knowledge of the fundamental concepts regarding the genetic information and the mechanisms related to its conservation, expression and transmission; knowledge of the concept, the structure and the function of gene and genome; knowledge of the phenomena associated with the different modalities of hereditary characters transmission, and genetic variability: polymorphisms, mutations and population genetics; a methodological approach aware of the use of advanced technologies in molecular genetics; the ability to apply the knowledge gained to biomedical problems.

Course contents

Module 1, 2, 3 and 4: Genetics

Gene and genome
Introduction to Genetics. Branches of Genetics and relations with the Medicine.
Molecular structure of DNA and genetic information. Concept of information. Genetic information in humans.
The gene: concept, structure and function. Evolution of the concepts of "gene" and "code". Alternative modes of operation of the gene.
Genome. Organization and variability of the human genome. Number, structure and function of human genes. NcRNA genes.
Families of DNA sequences. Similarity and homology. Gene families. Paralogy and orthology. Pseudogenes.
Families of repeated sequences not gene: tandem repeats (satellites, minisatellites and microsatellites); repetitive DNA "dispersed" (LINE, SINE, SVA, LTR and DNA transposons).

Inheritance laws
Human karyotype. Analysis method of the human karyotype. Number, shape and banding pattern of human chromosomes.
Significance of Mendel's experiments.
Dominance, recessivity, homozygosis and heterozygosis. Familiar, congenital, genetic, hereditary character.
Autosomal dominant inheritance (eg, achondroplasia, essential thrombocythemia).
Autosomal recessive inheritance (eg red hair; albinism).
Codominance. Inheritance of the ABO system. H substance and Bombay phenotype.
Inheritance of the Rh system. Maternal-fetal incompatibility for the Rh blood group.
Genetic sex determination. Structure, function and molecular evolution of the X and Y chromosomes.
Sex-linked inheritance (eg, hemophilia). X chromosome inactivation.
Genetic association and crossing-over. The genetic association as an exception to the second law of Mendel.
Mitochondrial inheritance. Structure, genes, function and mitochondrial DNA mutation. Applications in the biomedical sciences.
Epigenetics. Genomic imprinting. Transmission of genes subjected to imprinting.

Genetic variability
Mutation. Polymorphism. Classification: cause, cell type, biological effect, extension. Mechanisms of gene mutations.
Effects of gene mutations (substitutions, deletions, insertions) in the gene product depending on the localization in the gene.
Chromosomal mutations of structure: mechanisms and effects. Intra-chromosomal abnormalities (deletions, inversions) and their effects.
Inter-chromosomal abnormalities: reciprocal translocations, autosomal and X-Robertsonian translocations. Effects.
Chromosomal mutations of number. Poliplodia and aneuploidy: mechanisms and effects. Trisomy 21.

Multifactorial inheritance
Interaction between genes, epistasis, penetrance and expressivity. Multifactorial inheritance. Methods for the study of complex traits. The twins.
Theory of polygenic multifactorial quantitative (eg, height, blood pressure) and discontinuous (eg, cleft lip and palate) traits.

Population Genetics
Concepts of species and Mendelian population. Gene pool. The Hardy-Weinberg equilibrium and its applications in Medicine.
Forces modifying the Hardy-Weinberg equilibrium: mutation, migration, genetic drift, selection and assortative mating.


Module 5: Biology

Introduction to the study of modern biology

Biology as an experimental science; the branches of the Biology; the importance of Biology in Medicine.

General characteristics and properties of living organism; levels of organization of living matter and the emergent properties; classification of living organisms; unity and diversity: evolution.

The most important milestones of biology: from microscopy to "system biology"; the "omics" sciences: genome, transcriptome, proteome, metabolome and interactome.

Tools and methodologies to study of biology and their possible applications in medicine.

Cells: the fundamental units of life

The cell theory; prokaryotic and eukaryotic cells: differences and similarities. Viruses

Organization of the genome, flow of genetic information and regulation of gene expression

Nuclear compartment: structure and organization of the nucleus. Chromatin: structure and levels of organization. Role of chromatin in gene regulation: the histone code; epigenetics: definition, molecular mechanisms and applications in medicine.

The expression of the genome: transcription and translation.

Gene expression regulation: transcriptional, post-transcriptional, translational and post-translational control levels in eukaryotes. Post-synthetic fate of protein. Role of non-coding RNAs.

Division and cell death

The cell division cycle: general information; regulation of cell cycle. Cyclin-dependent kinases and cyclins. Kinase inhibitors. The role of p53.

Mitosis and meiosis: mechanisms and regulation. Comparison between mitosis and meiosis

Cell death: apoptosis and necrosis. Autophagy and cellular senescence.

Reproduction and differentiation

Asexual and Sexual reproduction. Male and female gametogenesis. Fertilization.

The early stages of embryonic development. The differentiation and control of gene expression.

Stem cells. Determination and differentiation.

Space-temporal organization of differentiation events. Interaction between cells and their environment. Cellular communication and differentiation.

The cancer

Neoplastic transformation: a multistep process. The molecular basis of neoplastic transformation. Oncogene, tumor suppressor and caretaker genes. Epigenetic alterations and neoplastic transformation.


Giacomo De Leo, Silvia Fasano, Enrico Ginelli - Biologia e Genetica - EdiSES, IV edizione 2020

Ginelli - Bonaldo - Brancolini - Malcovati - Poletti et al et al. - Molecole, Cellule e Organismi - EdiSES, II Edizione-2022

Bruce Alberts, Karen Hopkin et al. - L'essenziale di biologia molecolare della cellula - Zanichelli, V edizione 2020

Tom Strachan, Andrew Read - Genetica molecolare umana - Zanichelli, II edizione 2021 condotta sulla V edizione americana

Or university-level Genetics text (for Medicine courses).

Teaching methods

The course is organized in frontal lessons.

Scientific articles from international journals will be provided.

The frontal lessons will be supplemented by laboratory activities.

Assessment methods

The final exam consists of an oral examination on both disciplines of the course (Biology, Genetics and Medical Genetics). The achievement of knowledge objectives, the acquisition of an integrated view of the contents of both Biology and Genetics as well as the ability to apply the acquired knowledge to the biomedical problems will be evaluated. The final degree will be the weighted average of the three evaluations.

An exhaustive preparation on all the topics of the course and the ability to connect the different parts of the course combined with a use of specific terminology will be awarded excellence. The preparation on a large number of topics, but mostly mechanical and/ or mnemonic way, a not articulated synthesis and analysis skills and/ or a correct language, but not always appropriate lead to discrete evaluations. Training gaps and inappropriate language will be assessed negatively.

Teaching tools

PC for presentation, video and databank websites.

Scientific articles from international journals.

Detailed program, suggested books and any additional material will be provided via Virtuale platform.

Office hours

See the website of Provvidenza Maria Abruzzo

See the website of Lorenza Vitale

See the website of Pierluigi Strippoli

See the website of Silvia Canaider