GENETICS IN MEDICINE

GENETICS IN MEDICINE

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iten
Code
65454
ACADEMIC YEAR
2018/2019
CREDITS
1 credits during the 1st year of 9286 PSYCHIATRIC REHABILITATION TECHNIQUE (L/SNT2) GENOVA

1 credits during the 1st year of 9276 NURSING (L/SNT1) GENOVA

1 credits during the 1st year of 9276 NURSING (L/SNT1) GENOVA

1 credits during the 1st year of 9276 NURSING (L/SNT1) GENOVA

1 credits during the 1st year of 9276 NURSING (L/SNT1) GENOVA

1 credits during the 1st year of 9281 PHYSIOTHERAPY (L/SNT2) GENOVA

1 credits during the 1st year of 9282 SPEECH-LANGUAGE DISORDERS (L/SNT2) GENOVA

1 credits during the 1st year of 9283 ORTHOPTIC STUDIES AND OPHTHALMOLOGICAL ASSISTANCE (L/SNT2) GENOVA

1 credits during the 1st year of 9284 PODOLOGY (L/SNT2) GENOVA

1 credits during the 1st year of 9287 THERAPY OF MOTOR DISABILITY IN THE PEDIATRIC AGE (L/SNT2) GENOVA

1 credits during the 1st year of 9288 DIETETIC STUDIES (L/SNT3) GENOVA

1 credits during the 1st year of 9291 Cardiocirculatory and Cardiovascular Perfusion techniques (L/SNT3) GENOVA

1 credits during the 1st year of 9293 BIOMEDICAL LABORATORY TECHNIQUES (L/SNT3) GENOVA

1 credits during the 1st year of 9294 MEDICAL RADIOLOGY, IMAGING AND RADIOTHERAPY TECHNIQUES (L/SNT3) GENOVA

1 credits during the 1st year of 9297 ORTHOPAEDIC TECHNIQUES (L/SNT3) GENOVA

1 credits during the 1st year of 9298 PREVENTION TECHNIQUES IN THE ENVIRONMENT AND THE WORKPLACE (L/SNT4) GENOVA

SCIENTIFIC DISCIPLINARY SECTOR
MED/03
LANGUAGE
Italian
TEACHING LOCATION
GENOVA (PSYCHIATRIC REHABILITATION TECHNIQUE)
semester
1° Semester
Prerequisites
modules
This unit is a module of:
Teaching materials

OVERVIEW

Introduction to the most important issues of Medical Genetics, from different pattern of inheritance to technologies of genome analysis and problems concerning prenatal and preimplantation genetic diagnosis, including current law/legislative tendencies.

AIMS AND CONTENT

AIMS AND LEARNING OUTCOMES

The teaching aims to provide students of medical training about consequences in clinical practice of medical genetics and new diagnostic genetic tools now available.

At the end of the teaching the student will be able to:

  • Drawing-up of a family pedigree on the basis of family history.
  • Using the family tree as help in diagnosis of inherited diseases frequently observed in the Italian population.
  • Knowledge about the most important inherited diseases and their clinical consequences.
  • Knowledge about the most important conditions associated with chromosome defects and genetic tests used for their diagnosis.
  • Knowledge about the features of most important genetic tests (diagnostic, presymptomatic, predictive and prenatal).
  • Knowledge of the  indications for a molecular genetic test.
  • Knowledge of the the most important purposes and how to use genetic counselling.
  • Knowledge of individual and  ethical problems concerning the diagnosis of inherited diseases.

Teaching methods

The course consists of 10 hours of classroom lessons on all topics of the program, the last part of each lesson  is dedicated to solving simple genetic problems.

SYLLABUS/CONTENT

Human Mendelian inheritance: the phenotype analysis.

Drawing-up a family pedigree on the basis of family history.

Different patterns of inheritance: autosomal dominant and recessive, X-linked.

Molecular genetic approach to inherited human diseases, including the methods of next generation sequencing (NGS).

Extension of Mendelian inheritance with examples.

Cytogenetics: karyotype analysis, numerical and structural abnormalities.

Prenatal genetic diagnosis: purposes and diagnostic tecniques.

Preimplantation genetic diagnosis: purposes and current law/legislative tendencies.

Gene frequencies in populations: elementary basis.

Multifactorioal traits: elementary basis.

Pharmacogenetics: elementary basis.

Features of most important genetic tests (diagnostic, presymptomatic, predictive and prenatal).

Genetic counselling: the most important purposes and how to use it.

RECOMMENDED READING/BIBLIOGRAPHY

All the topics covered in class can be found in the ”Aula Web” (https://www.aulaweb.unige.it)

Any other, more in-depth material is mentioned in the following textbooks:

- Maurizio Clementi “Elementi di Genetica Medica” EdiSES, 2016

- Neri G, Genuardi M “Genetica Umana e Medica”- Ediz. Masson

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

Ricevimento: - Students may take an appointment to talk to professor (ebellone@unige.it).

LESSONS

Teaching methods

The course consists of 10 hours of classroom lessons on all topics of the program, the last part of each lesson  is dedicated to solving simple genetic problems.

LESSONS START

I semester from october 2018

EXAMS

Exam description

Written test (10 multiple choice questions) for the Medical Genetics section.
The examination for the integrated course  is made up of a single written exam for the 4 sub-sections (10 multiple choice questions per each module). In order to pass the examination the student has to reach a mark of at least 24/40 (18/30).

The total amount of time allowed for the examination is 60 minutes.
Students enrolled in other universities or other degree courses who are only required to sit for some of the sub-sections  must achieve an average mark of at least 6, 12 or 18, depending on the number  of modules.

Assessment methods

Students are assessed ­by a final exam alone which aims to ensure that 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 :
 

Drawing-up of a family pedigree on the basis of family history.

Using the family tree as help in diagnosis of inherited diseases frequently observed in the Italian population.

Knowledge about most important inherited diseases and their clinical implications.

Knowledge about most important conditions associated with chromosome defects and genetic tests used for their diagnosis.

Knowledge of most important genetic tests (diagnostic, presymptomatic, predictive and prenatal).

Knowledge of the indications for a molecular genetic test.

Knowledge of the most important purposes and how to use genetic counselling.

Knowledge of  individuall and ethical problems concerning the diagnosis of inherited diseases.

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

 

 Students must make an appointment to talk to professors. (e-mail phone)