| CODE | 61199 |
|---|---|
| ACADEMIC YEAR | 2021/2022 |
| CREDITS |
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| SCIENTIFIC DISCIPLINARY SECTOR | MED/03 |
| LANGUAGE | Italian |
| TEACHING LOCATION |
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| SEMESTER | 1° Semester |
| MODULES | This unit is a module of: |
| TEACHING MATERIALS | AULAWEB |
General teaching objectives:
- insights into the genetic basis and molecular mechanisms underlying hereditary diseases
- knowing how to formulate a medical problem in genetic terms.
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.
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.
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.
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 by analysis of linkage disequilibrium.
Molecular variants in the human genome. Classes of causative variants in genetic diseases, polymorphic variants.
Human genome and comparative genomics. Genomic comparative 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) Transmission probability of monogenic traits
2) Pedigrees analysis.
3) Genetic diagnosis of hereditary diseases by using DNA polymorphisms.
4) Exercises in population genetics.
Neri G., Genuardi M.- Genetica umana e medica. Edra
Office hours: Please, make an appointment by e-mail apuliti@unige.it, or telephone 010-56362802. Address: UOC Genetica Medica, Istituto Giannina Gaslini, via Gaslini 5 Genova
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)
11th December 2018
All class schedules are posted on the EasyAcademy portal.
Written test (n. 20 multiple choice questions, 10 exercises and 10 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.
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:
| Date | Time | Location | Type | Notes |
|---|---|---|---|---|
| 10/01/2022 | 09:00 | GENOVA | Orale | Sede: Aula di Patologia Generale - Via Alberti 2 In funzione della situazione pandemica, gli esami potranno essere svolti a distanza in modalità telematica utilizzando la piattaforma Teams. |
| 12/01/2022 | 09:00 | GENOVA | Scritto | L'esame si terrà su Teams |
| 01/02/2022 | 09:00 | GENOVA | Orale | Sede: Aula 3 Polo Alberti. In funzione della situazione pandemica, gli esami potranno essere svolti a distanza in modalità telematica utilizzando la piattaforma Teams. |
| 04/02/2022 | 09:00 | GENOVA | Scritto | L'esame si terrà su Teams |
| 16/02/2022 | 09:00 | GENOVA | Orale | Sede: Aula 6 Polo Alberti In funzione della situazione pandemica, gli esami potranno essere svolti a distanza in modalità telematica utilizzando la piattaforma Teams. |
| 28/02/2022 | 09:00 | GENOVA | Scritto | L'esame si terrà su Teams |
| 14/04/2022 | 09:00 | GENOVA | Orale | Sede: Aula 3 Polo Alberti. In funzione della situazione pandemica, gli esami potranno essere svolti a distanza in modalità telematica utilizzando la piattaforma Teams. |
| 15/06/2022 | 09:00 | GENOVA | Orale | Sede: Aula 6 Polo Alberti In funzione della situazione pandemica, gli esami potranno essere svolti a distanza in modalità telematica utilizzando la piattaforma Teams. |
| 16/06/2022 | 09:00 | GENOVA | Scritto | L'esame si terrà su Teams |
| 01/07/2022 | 09:00 | GENOVA | Scritto | L'esame si terrà su Teams |
| 05/07/2022 | 09:00 | GENOVA | Orale | Sede: Aula 6 Polo Alberti In funzione della situazione pandemica, gli esami potranno essere svolti a distanza in modalità telematica utilizzando la piattaforma Teams. |
| 19/07/2022 | 09:00 | GENOVA | Scritto | L'esame si terrà su Teams |
| 21/07/2022 | 09:00 | GENOVA | Orale | Sede: Aula 3 Polo Alberti. In funzione della situazione pandemica, gli esami potranno essere svolti a distanza in modalità telematica utilizzando la piattaforma Teams. |
| 12/09/2022 | 09:00 | GENOVA | Scritto | L'esame si terrà su Teams |
| 19/09/2022 | 09:00 | GENOVA | Orale | Sede: Aula 6 Polo Alberti In funzione della situazione pandemica, gli esami potranno essere svolti a distanza in modalità telematica utilizzando la piattaforma Teams. |
| 24/11/2022 | 14:00 | GENOVA | Orale | Appello riservato esclusivamente agli studenti fuori corso. L'esame si svolgerà presso l'Aula Antognetti - Edificio 5 (ex Dimi). A tutti gli iscritti verrà data conferma sulla sede e sull'orario. |
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