MEDICAL GENETICS (HUMAN GENETICS)

MEDICAL GENETICS (HUMAN GENETICS)

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iten
Code
61199
ACADEMIC YEAR
2019/2020
CREDITS
1 credits during the 2nd year of 8745 MEDICINE AND SURGERY (LM-41) GENOVA
SCIENTIFIC DISCIPLINARY SECTOR
MED/03
LANGUAGE
Italian
TEACHING LOCATION
GENOVA (MEDICINE AND SURGERY)
modules
This unit is a module of:
Teaching materials

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 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.

RECOMMENDED READING/BIBLIOGRAPHY

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

TEACHERS AND EXAM BOARD

Ricevimento: make an appointment by e-mail apuliti@unige.it, or telephone 010-56362802. Address: UOC Genetica Medica, Istituto Giannina Gaslini, via Gaslini 5 Genova

Exam Board

GABRIELLA PIETRA (President)

ALDAMARIA PULITI (President)

SONIA SCARFI' (President)

CHIARA VITALE (President)

WILLIAM BRUNO (President)

MARIA CRISTINA MINGARI (President)

PAOLA GHIORZO (President)

VINCENZO DI PILATO (President)

ANNA MARIA SCHITO

MARIA ADELAIDE PRONZATO

EUGENIO DEBBIA

ANNA MARCHESE

CLAUDIA CANTONI

LESSONS

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. 

LESSONS START

11th December 2018

EXAMS

Exam description

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.

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
  5. Genetic mapping.
  6. Populations genetics.
  7. Complex genetic traits.
  8. Molecular variants in the human genome.
  9. Human genome and comparative genomics.
  10. Human genome annotation.

Exam schedule

Date Time Location Type Notes
11/06/2020 09:00 GENOVA Scritto 08/01/2020 Aule 1 e 34 Polo Biomedico 05/02/2020 Aule 1 e 2 Polo Biomedico 25/02/2020 Aule 1 e 2 Polo Biomedico 11/06/2020 Aula 1 Polo Biomedico 02/07/2020 Aula 1 Polo Biomedico 21/07/2020 Aula 8 Polo Biomedico 11/09/2020 Aula 8 Polo Biomedico ore 9.00
17/06/2020 09:00 GENOVA Orale Sede: Aula 6 - Polo Alberti
02/07/2020 09:00 GENOVA Scritto 08/01/2020 Aule 1 e 34 Polo Biomedico 05/02/2020 Aule 1 e 2 Polo Biomedico 25/02/2020 Aule 1 e 2 Polo Biomedico 11/06/2020 Aula 1 Polo Biomedico 02/07/2020 Aula 1 Polo Biomedico 21/07/2020 Aula 8 Polo Biomedico 11/09/2020 Aula 8 Polo Biomedico ore 9.00
08/07/2020 09:00 GENOVA Orale Sede: Aula 6 - Polo Alberti
21/07/2020 09:00 GENOVA Scritto 08/01/2020 Aule 1 e 34 Polo Biomedico 05/02/2020 Aule 1 e 2 Polo Biomedico 25/02/2020 Aule 1 e 2 Polo Biomedico 11/06/2020 Aula 1 Polo Biomedico 02/07/2020 Aula 1 Polo Biomedico 21/07/2020 Aula 8 Polo Biomedico 11/09/2020 Aula 8 Polo Biomedico ore 9.00
22/07/2020 09:00 GENOVA Orale Sede: Aula 3 - Polo Alberti
11/09/2020 09:00 GENOVA Scritto 08/01/2020 Aule 1 e 34 Polo Biomedico 05/02/2020 Aule 1 e 2 Polo Biomedico 25/02/2020 Aule 1 e 2 Polo Biomedico 11/06/2020 Aula 1 Polo Biomedico 02/07/2020 Aula 1 Polo Biomedico 21/07/2020 Aula 8 Polo Biomedico 11/09/2020 Aula 8 Polo Biomedico ore 9.00
21/09/2020 09:00 GENOVA Orale Sede: Aula di Patologia Generale - Via Alberti 2

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