15950 - Biology and Genetics

Learning outcomes

About Biology, at the end of the course the student is able to relate the main functions of the cell with its structure. He knows cellular processes and has skills in the aspects of regulation: gene regulation and the main mechanisms that govern cell differentiation and specialization, regulation of mobility, concepts of communication between cells, regulation of the cell cycle and apoptosis . Also in the study of human reproduction he knows the regulatory aspects. The student is able to apply the notions learned to face biomedical problems related to the regulation mechanisms and their eventual alteration.

About Genetics, at the end of the course, he acquired: knowledge of the fundamental concepts concerning genetic information and the mechanisms related to its conservation, expression and transmission; knowledge of the concept, structure and function of the gene and genome; knowledge of the characters linked to the different modes of transmission of hereditary characteristics, and to genetic variability: polymorphisms, mutations and population genetics; a methodology aware of the use of advanced molecular genetic technologies; the ability to apply the knowledge acquired to biomedical problems.

Course contents

BIOLOGY AND GENETICS

Introduction to the study of modern biology

Introduction to cellular and molecular biology.

The development of cell biology: from microscopy to system biology. New objects of study in complex systems: genome, transcriptome, proteome, metabolome, and interactome.

Scientific development of the discipline and applications in medicine: genomic and post-genomic methodologies.

Biological bases of human reproduction

Reproductive strategies of living beings.

Reproduction in the human species: phenomenology and regulation of cellular events in male and female gametogenesis.

Structure of mature gametes and fertilization.

Biological bases of differentiation and cellular homeostasis

Determination and differentiation: control of gene expression and mechanisms of cellular diversification with an overview of molecular developmental biology in animal models.

Stem cells, cellular genealogies, and biological memory.

A paradigm of cellular differentiation: the formation of skeletal muscle.

Quiescent and continuously renewing cells: foundations for understanding pathological aspects caused by an imbalance in the homeostasis of biological systems.

Epigenetics and regulatory codes

The complexity of gene expression regulation: positional, nucleosomal, and histone codes.

Epigenetics: new frontiers in medicine. Physiology of epigenetic modifications and environmental effects on the epigenome.

The world of RNA and biomedical applications

The new dogmas of biology: RNA genes or non-coding RNAs.

An in-depth look at RNA interference (RNAi): miRNA, siRNA, piRNA. lncRNA: classification and functions.

Possible RNA therapy approaches.

Genetic variability

Interindividual variability of the human genome.

Classification of mutations: cause, cell type, biological effect, and extent.

Mechanisms and effects of gene mutations on the gene product depending on their location on the gene.

Mechanisms and effects of chromosomal structural mutations (intrachromosomal and interchromosomal) on the carrier and the gametes produced.

Mechanisms and effects of chromosomal numerical mutations.

Laws of heredity

Exceptions to the inheritance of the ABO system (Bombay phenotype).

Inheritance of the Rh system. Maternal-fetal incompatibility for the Rh blood group.

Genetic determination of sex. Structure and function of the X and Y chromosomes.

Sex-linked inheritance (e.g., hemophilia). Dose compensation and molecular biology of X chromosome inactivation.

Linkage and exchange. Gene linkage as an exception to Mendel's second law.

Biomedical applications of mitochondrial DNA analysis.

Multifactorial inheritance

Methods for studying complex traits (e.g., twins).

Polygenic theory of quantitative (e.g., height, blood pressure) and discontinuous (e.g., cleft lip and palate) multifactorial traits.

Genetics of population

Mendelian species and population concepts. Gene pool. Hardy-Weinberg law and its applications in medicine.

Forces modifying the Hardy-Weinberg equilibrium: mutation, migration, genetic drift, selection, and assortative mating.

Readings/Bibliography

G. De Leo, E. Ginelli, S. Fasano. Biologia e genetica. Edises. IV edizione/2020.

B. Alberts, K. Hopkin, A. Johnson, D. Morgan, M. Raff, K. Roberts, P. Walter. L'essenziale di biologia molecolare della cellula. Zanichelli. V edizione/2020.

P. Bonaldo, C. Brancolini, E. Ginelli, M. Malcovati, A. Poletti et al. Molecole, Cellule e Organismi. Edises. Edizione II/2022

Teaching methods

Frontal lessons and scientific papers.

Assessment methods

Oral examination.

The degree will be the weighted average of the two evaluations between "Biology and Genetics" and "Molecular Biology".

Teaching tools

Slides, scientific papers, books.

Office hours

See the website of Maria Caracausi