Degree | Type | Year | Semester |
---|---|---|---|
2502442 Medicine | OT | 3 | 0 |
2502442 Medicine | OT | 4 | 0 |
2502442 Medicine | OT | 5 | 0 |
2502442 Medicine | OT | 6 | 0 |
It is advisable that students have a good knowledge of English because many of the sources of information on this subject are in this language. It would have been better if the Competences corresponding to the subjects: Cell Biology and Human Genetics.
The main objectives of this subject are: Know the genetic basis of the main diseases with a genetic basis or component. Relate genetic dysfunction with the pathological phenotype. Perform the genetic interpretation of diagnosis, prognosis, prevention and therapy of pathologies Genetics more frequent in the human population. Know the distribution of genetic-based diseases in a given population taking into account its origin. Analyze from a genetic point of view the probandus-family relationship that facilitates the offer of advice genetic.
Introductory session (in person)
Follow-up sessions of the subject .
Final session of presentation and discussion of the work done by the students (face-to-face)
Electronic modules
Module 1. Most frequent monogenic diseases
Module 2. Metabolic diseases
Module 3. Mental and behavioral diseases
Module 4. Endocrine diseases
Module 5. Hematological diseases
Module 6. Microdeletion and gene microduplication syndromes
Note: Unless the requirements enforced by the health authorities demand a prioritization or reduction of these contents
Directed: The course includes 2 face-to-face sessions, one at the beginning and the other at the end of the course. Supervised: Resources and tools available will also be made available, potentially useful for the development and maximum use of the course. The student acquires the basic scientific knowledge of The subject. The student will be able to find the material utlititzado in class in the Virtual Campus. Autonomous: The course includes an electronic syllabus consisting of 6 modules, in which the theoretical content of the course, which will complement the personal study of the topics discussed.
Note: The proposed teaching methodology may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities.
Annotation: Within the schedule set by the centre or degree programme, 15 minutes of one class will be reserved for students to evaluate their lecturers and their courses or modules through questionnaires.
Title | Hours | ECTS | Learning Outcomes |
---|---|---|---|
Type: Directed | |||
THEORY (TE) | 4 | 0.16 | 2, 5 |
Type: Supervised | |||
VIRTUAL CLASSES (VIRT) | 8 | 0.32 | 2, 5 |
Type: Autonomous | |||
PREPARATION OF WRITTEN WORKS | 23 | 0.92 | 2, 3, 4 |
SELF-STUDY | 35 | 1.4 | 2, 5 |
The competences of this course will be evaluated:
1- Resolution of a clinical case. Represent 10% of the final grade.
2- Realization of a written work on a specific genetic disease. It will represent 50% of the Final mark.
3- Oral presentation of the work done. Represent 40% of the final grade.
Recovery exam: those students who have not passed the continuous assessment will complete a Written exam concerning the contents of the syllabus of the subject.
Note: Student’s assessment may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities.
Title | Weighting | Hours | ECTS | Learning Outcomes |
---|---|---|---|---|
Narrative records/written works | 10% | 1 | 0.04 | 7 |
Oral defense of works | 40% | 2 | 0.08 | 9 |
Written evaluation:Objective tests | 50% | 2 | 0.08 | 1, 2, 3, 4, 5, 6, 7, 8, 9 |
• Bain, Barbara J. Haemoglobinopathy Diagnosis. Editorial Blackwell Science, 2001 .(Hi ha la 2a edició de 2006)
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• Jord- Genetics and Genomics in Medecine. Strachan et al. (2015). Ed Garland Science, 1rst ede, L. B. et al. Genética Médica, 4a ed. Elsevier, 2011
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• Nussbaum, Robert L. Thompson and Thompson Genética en Medicina, 7a ed. Editorial Masson, 2008
• Read, A. i Donnai, D. New Clinical Genetics. Editorial Scion Publishing Ltd, 2011
• Rimon, David L. Emery and Rimoin's principles and practice of medical genetics, 4a ed. Editorial Churchill Livingstone. Vol 2-3, 2002 (Hi ha la 5a edició de 2006)
• Salvador, Joaquín i Carrera, José M. Síndromes congénitos malformativos.Colección de Medicina Materno-Fetal. Editorial Masson, 1995
• Scriver, Charles R. et al. The Metabolic &molecular bases of inherited disease, 8th. ed. Editorial MacGraw-Hill, New York, 2001
• Stracher, T. et al. Genetics and Genomics in Medicine, 1st ed. Garland Science, 2014 • Wright , A. i Hastie, N. G
• Wright , A. i Hastie, N. Genes and common diseases: Genetics in Modern Medicine. Editorial Cambridge University Press, 2007
The application software is the set of PROGRAMS that allow document management, data processing, digital retouching of images, Internet browsing ... etc. The application software can be grouped into the following sections:
• Word processors: allow the creation of documents with the integration of text, data and images. Examples: Word, WordPad ...
• Databases: they allow the processing of large amounts of information and facilitate subsequent consultation. Example: Access.
• Spreadsheets: allow the processing of data, but in this case numerical, and the performance of mathematical calculations. Example: Excel.
• Communication programs: allow communication through computer networks. You can browse the Internet, send an email ... Examples: IE, Browser, Messenger, Outlook, Eudora ...
• Graphic design: they allow the realization and digital treatment of drawings, plans and photographs. Examples: AutoSketch (technical drawing), Paint (drawing), Paint Shop Pro (image processing) ...
• Multimedia creation programs: allow you to integrate text, graphics, sound and animations, and create interactive documents. Examples: Flash, PowerPoint ...
• ... and the list of programs could continue with file compressors, MP3 players ...
Diagnostic software is the set of programs that allow you to configure and check the correct operation of all the hardware elements of a computer system.
Unless the restrictions imposed by the health authorities require a prioritization or reduction of such content.