OVERVIEW

General teaching objectives:

- insights into the genetic basis and molecular mechanisms underlying hereditary diseases

- knowing how to formulate a medical problem in genetic terms.

AIMS AND CONTENT

LEARNING OUTCOMES

To be able to define the pattern of inheritance of Mendelian traits through tht analysis of pedigrees; to evaluate the recurrence risk for genetic diseases in individuals from families with one or more affected members; to know how to calculate allele and genotype frequencies in the population; to know the most relevant methods to studying complex genetic diseases. 

AIMS AND LEARNING OUTCOMES

At the end of the course students should be familiar with the fundamental concepts on

- chromosomal anomalies and genetic disorders

- Mendelian traits transmission in humans

- complex mode of inheritance

- bases of population genetics

- main methods for mapping disease genes

- complex genetic traits

- human genome variability and genetic disorders

Students will acquire deep knowledge of the main chromosomal anomalies associted with human disorders, Mendelian and non-mendelian mode of inheritance of human diseases, the genetic bases of multifactorial diseases.

TEACHING METHODS

The course consists of 15 hours of classroom training including 10 hours of theoretical lessons on all topics of the program, 5 hours dedicated to solving genetic problems, and an additional seminar on the ethical aspects of genetics and genomics (3 hours) carried out jointly by teachers of the integrated course. 

SYLLABUS/CONTENT

The human chromosomes: karyotype, main methods of analyses, chromosomal anomalies.

Mendelian traits transmission in humans: Autosomic dominant, autosomic recessive, sex-linked and mitochondrial hereditary.

Complications of Mendelian transmission. Including allelic exclusion depending on parental origin.

Genetic association studies in humans. Genetic segregation, haplotypes, genetic recombination, linkage disequilibrium.

Genetic mapping. Physical mapping, genetic mapping by linkage analysis, databases.

Populations genetics. Genotypic and allelic frequency in a population: Hardy Weinberg equilibrium, and deviation from Hardy Weinberg equilibrium.

Complex genetic traits. Familial aggregation, twins, multigenic component, search for genetic susceptibility to complex diseases.

Molecular variants in the human genome. Classes of causative variants in genetic diseases, polymorphic variants.

Human genome and comparative genomics. Comparative genomic analysis and functional studies of genes and non-coding genomic functional elements.

Human genome annotation. Implications in human genetics, in genetic variability, and in the pathophysiological processes.

Problem solving in the following subjects:

1) Pedigrees analysis

2) Transmission probability of monogenic traits

3) Genetic diagnosis of hereditary diseases by using DNA polymorphisms

4) Practice problems in population genetics

RECOMMENDED READING/BIBLIOGRAPHY

T. STRACHAN, A. READ. Genetica molecolare umana. Seconda edizione Zanichelli condotta sulla quinta edizione americana, 2021

G. NERI, M. GENUARDI, Genetica Umana e Medica, quarta edizione - EDRA – 2017

TEACHERS AND EXAM BOARD

Exam Board

WILLIAM BRUNO (President)

VINCENZO DI PILATO (President)

PAOLA GHIORZO (President)

MARIA CRISTINA MINGARI (President)

GABRIELLA PIETRA (President)

ALDAMARIA PULITI (President)

SONIA SCARFI' (President)

ANNA MARCHESE

LORENZA PASTORINO

GABRIELLA PIATTI

MARIA ADELAIDE PRONZATO

CLAUDIA CANTONI (President and Coordinator of Integrated Course)

LESSONS

LESSONS START

Class timetable is available on EasyAcademy.

Class schedule

The timetable for this course is available here: Portale EasyAcademy

EXAMS

EXAM DESCRIPTION

The exam will be an oral test. The interview lasts about 20-30 minutes and focuses on the program carried out during the lessons. Examinees may be asked to perform exercises on classroom topics, such as pedigree analysis, estimation of recurrence risk, calculation of allele and genotype frequencies.

By discussing various topics, the Commission (composed of the course teachers) ascertains the achievement of the learning objectives.

The exam may be carried out face to face or remotely in relation to the evolution of the epidemiological situation.

ASSESSMENT METHODS

Students are assessed ­by a final exam which aims to ensure they have actually reached the required level of knowledge.

In order to pass the examination and to reach a mark of at least 18/30, the students must prove their knowledge on:

1. The human chromosomes.
2. Mendelian traits transmission in humans.
3. Complex mode of inheritance.
4. Genetic association studies in humans and genetic mapping.
5. Populations genetics.
6. Complex genetic traits.
7. Recurrence risk of genetic diseases.
8. Molecular variants in the human genome.
9. Human genome and comparative genomics.
10. Human genome annotation.

Exam schedule

FURTHER INFORMATION

All the topics covered in class can be found in the ”aula web” slides.
Any other, more in-depth material is mentioned at the end of the lesson and can be found in the “aula web” slides.
 https://www.aulaweb.unige.it