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

Knowledge on:

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

AIMS AND LEARNING OUTCOMES

Knowledge on:

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

TEACHING METHODS

The course consists of 16 hours of classroom training including 10 hours of theoretical lessons on all topics of the program, 6 hour dedicated to solving genetic problems.

Also on the same subject an additional opportunity of 1 CFU (5X0.2) as ADE is given These latter activities are similar to seminars but are carried out jointly by teachers with various skills.

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.

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

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

Genetic associations in humans. Genetic segregation, haplotypes, genetic recombination, linkage disequilibrium.

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

Complex genetic traits. Familial aggregation, twins, multigenic component, search for genetic susceptibility by analysis of linkage disequilibrium.

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

The human genome project. Implications in human genetics, in genetic variability, and in the pathophysiological processes.

Problem solving in the following subjects:

1) Transmission probability of monogenic traits

2) Pedigrees analysis.

3) Genetic diagnosis of hereditary diseases by using DNA polymorphisms.

4) Exercises in population genetics.

RECOMMENDED READING/BIBLIOGRAPHY

Neri G., Genuardi M.- Genetica umana e medica. Elsevier

TEACHERS AND EXAM BOARD

Exam Board

MARIA CRISTINA MINGARI (President)

GABRIELLA PIETRA (President)

WILLIAM BRUNO

EUGENIO DEBBIA

PAOLA GHIORZO

ANNA MARCHESE

MARIA ADELAIDE PRONZATO

ANNA MARIA SCHITO

CLAUDIA CANTONI (President and Coordinator of Integrated Course)

LESSONS

LESSONS START

NA

Class schedule

The timetable for this course is available here: Portale EasyAcademy

EXAMS

EXAM DESCRIPTION

Written test (n. 15 multiple choice questions, 10 exercises and 5 questions on theoretical subjects for the Human Genetics section.
The examination for the integrated course is made up of a single written exam for the 3 sub-sections.  The total amount of time allowed for the examination is 90 minutes.
The chance to carry out a supplementary oral examination  is available both to students whose final average mark is between 16 and 17/30 and  to those who wish to increase the mark (above 18/30) they obtained in the written examination.

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.     Human genome and comparative genomics.

5.     Molecular variants in the human genome.

6.     Genetic associations in the human.

7.     Genetic mapping.

8.     Complex genetic characters.

9.     Populations genetics.

10.  The human genome project.

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