Biology and Genetics

A.Y. 2024/2025
6
Max ECTS
72
Overall hours
SSD
BIO/13 MED/03
Language
Italian
Learning objectives
The goal of the course is to describe the genetic mechanisms underlying the transmission of Mendelian characters to identify the inheritance of diseases in humans evaluating the reproductive risk through the study of family trees. The course is also aimed at providing the future medical doctor with the tools to understand the molecular mechanisms at the basis of the main genetic disorders involving genes, and chromosomes, and the use of novel diagnostic tests.
These skills will allow the patient to be directed to more specific diagnostic and clinical investigations, to assess the inheritance risk of pathological trait, and / or identify the liability to a specific disorder, reducing environmental risk through appropriate lifestyles
Expected learning outcomes
At the end of the course the student should be able to draw a family tree, distinguishing the different types of inheritance, indicate the possible genetic and environmental factors in multifactorial diseases, classify mutations involving genes and chromosomes, describe the most common genetic disorders, and be able to calculate the frequency of a disease gene in a population, evaluating the presence of healthy carriers. The student must also have understood, the main strategies used in cytogenetic-molecular diagnosis, applied in pre- and post-natal genetic counseling
Single course

This course cannot be attended as a single course. Please check our list of single courses to find the ones available for enrolment.

Course syllabus and organization

Linea Policlinico (A-L)

Prerequisites for admission
No specific pre-requirement is requested for the admission to the course of Biology and Genetics
Assessment methods and Criteria
LINEA A-L e S. DONATO
At the end of the lessons of the BIOLOGY AND GENETICS MODULES the students will have the opportunity to take an IN ITINERE WRITTEN TEST for each module; the final mark, after passing both tests, will be given by the arithmetic mean of the obtained marks. The tests will consist of multiple multiple choice questions with 5 possible answers or a few open questions or a mixture of both; one or more answers may be correct. The questions will focus on most of the topics covered in class. Those who have NOT passed the IN ITINERE TESTS will be able to take the ORAL exam according to the calls, for each MODULE of the entire Biology and Genetics Course. The final mark will be calculated on the basis of the weight in CFU of the individual modules, evaluating the acquisition of the course contents and the appropriateness of the language.

LINEA M-Z
At the end of the BIOLOGY MODULE, students will have the opportunity to take an ongoing written test. The exam of the Genetics module will take place in oral mode with questions that will focus on the majority of the topics covered in class; the final grade, after passing the IN ITINERE WRITTEN TEST of BIOLOGY and the ORAL EXAM of GENETICS, will be given by the arithmetic mean of the obtained marks. The Biology test will consist of multiple multiple choice questions with 5 possible answers; one or more answers may be correct. The questions will focus on most of the topics covered in class. Those who have NOT passed the IN ITINERE TEST of the BIOLOGY MODULE will be able to take the ORAL exam according to the calls, for each MODULE of the entire Biology and Genetics Course. The final mark will be calculated on the basis of the weight in CFU of the individual modules, evaluating the acquisition of the course contents and the appropriateness of the language.
Experimental biology
Course syllabus
· Human genome project: purpose and effects
· Human genome organization
- Features of genome sequences
- Mechanisms underlying genomic rearrangement
- Hints on the tridimensional structure
- human chromosomes as the vehicle of inheritance, the human karyotype
· Chromosomal basis of Inheritance
- Life cycles
- Sexual reproduction
- Mitosis and meiosis
· Principles of Mendelian Inheritance
- Mendel laws
- Codominance and incomplete dominance
- Blood groups, multiple alleles
- Hemolytic Disease of the Newborn
- Sex-linked traits
· Normal and pathological hereditary traits in Humans
- Pedigree analysis
- Mendelian and Mitochondrial inheritance
· Gene functions and gene interactions
- Genetic complementation
- Epistasis
· Quantitative Traits
· Genetic Linkage, Genetic recombination
- Genetic Mapping
· DNA mutations
- Mutation classification
- Effects on proteins
· Mechanisms of DNA repair
· DNA polymorphisms
- SNPs, microsatellites and minisatellites
· Genetic structure of population
- Genotype frequency
- Allele frequency
- Hardy Weinberg law and its application
· Effects of Evolutionary Forces
- Genetic drift
- Migration
- Mutation
- Natural selection and frequency of pathological alleles in populations.
Teaching methods
The module consists of frontal lectures and classroom exercises with slide shows in Power Point. Innovative teaching will be provided in the form of discussion of clinical cases, seminars and online exercises. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to consider the possible biomedical applications deduced from the acquired knowledge.
The teaching material consisting of presentations in PDF format is made available at the end of the lesson on the Ariel platform.
Attendance of teaching is mandatory.
Teaching Resources
"Principi di Genetica " D. P. Snustad - M. J. Simmons - EDISES
"Genetica in Medicina " Thompson & Thompson - EDISES
Materiale didattico integrativo sarà reso disponibile durante il corso alla seguente pagina web:
https://privabg2al.ariel.ctu.unimi.it/v5/home/Default.aspx
Medical genetics
Course syllabus
· Chromosomal abnormalities of the number and the structure of chromosomes:
- human karyotype: variants and mutations
- Clinical implications and cytogenetic diagnosis
- Molecular cytogenetics: Fluorescent In Situ Hybridization (FISH), definition, features and applications; CGH array techniques
· The sex chromosome and their abnormalities:
- X chromosome inactivation: mechanisms and relevance of the phenomenon in X-linked genetic diseases
- Genetic sex determination, examples of diseases with altered sex differentiation
· Genomic imprinting and uniparental disomies. Pathogenetic mechanisms of examples of imprinting disorders (Angelman syndrome, Prader-Willi syndrome).
· Trinucleotide repeat disorders and related pathomechanisms. Fragile X syndrome, FMR1-relate syndromes and Huntington's disease.
· Genetic counseling and mendelian risks.
· The main types of genetic tests: single-gene sequencing, next-generation sequencing, concept and applications of Clinical Exome and Whole Exome sequencing
· Hints on new "omics" technologies
· Mitochondrial disorders and approaches for analysis of the mitochondrial DNA
· Cancer genetic predisposition. Somatic and germline mutations. Main features of the involved genes
Teaching methods
The module consists of frontal lectures and classroom exercises with slide shows in Power Point. Innovative teaching will be provided in the form of discussion of clinical cases, seminars and online exercises. In all teaching moments, students are exhorted to try to find experimental strategies useful for solving small scientific problems or to consider the possible biomedical applications deduced from the acquired knowledge.
The teaching material consisting of presentations in PDF format is made available at the end of the lesson on the Ariel platform.
Attendance of teaching is mandatory.
Teaching Resources
Genetics in Medicine", Thompson & Thompson - EDISES / Elsevier
"Genetica e genomica umane", Stuppia - EdiErmes
Materiale didattico integrativo sarà reso disponibile durante il corso alla seguente pagina web:
https://privabg2al.ariel.ctu.unimi.it/v5/home/Default.aspx
Experimental biology
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 4
Lessons: 36 hours
: 12 hours
Professor: Riva Paola Vanda
Shifts:
Turno
Professor: Riva Paola Vanda
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 2
Lessons: 20 hours
: 4 hours
Professor: Ghezzi Daniele
Shifts:
Turno
Professor: Ghezzi Daniele

Linea Policlinico (M-Z)

Experimental biology
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 4
Lessons: 36 hours
: 12 hours
Shifts:
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 2
Lessons: 20 hours
: 4 hours
Professor: Finelli Palma
Shifts:
Turno
Professor: Finelli Palma

Linea San Donato

Experimental biology
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 4
Lessons: 36 hours
: 12 hours
Shifts:
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 2
Lessons: 20 hours
: 4 hours
Professor: Alcalay Myriam
Shifts:
Turno
Professor: Alcalay Myriam
Professor(s)
Reception:
by telephone appointment
via L. Temolo 4, 20126 Milano - Lab of Neurogenetics and mitochondrial disorders
Reception:
to be scheduled, please email me for additional information
LITA, Via Fratelli Cervi 93, Segrate, MI
Reception:
By appointment
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale via Fratelli Cervi 93 Segrate (MI)