Degree | Type | Year | Semester |
---|---|---|---|
2501230 Biomedical Sciences | OB | 2 | 1 |
Those needed to follow the degree, and have taken the subject of genetics during the first year
Human Genetics studies the phenomena of inheritance for both normal and pathological variation in humans. It is a fundamental and applied subject in biomedical sciences that integrates all levels of organization, from the molecular to the evolutionary.
The main objectives of this subject are:
1. Understanding the bases and mechanisms of inheritance.
2. Ability to perform genetic analyses of different characters.
3. Ability to design and obtain information from experiments in genetics, as well as to interpret the results obtained.
4. To develop of a historical vision that allows summarizing the most important milestones of Human Genetics and assess the contributions to current biology and medicine.
Topic 1. The human genome
Topic 2. Developmental Genetics
Topic 3. Mutations and polymorphisms
Topic 4. Chromosomal alterations
Topic 5. Gene mapping
Topic 6. Pharmacogenetics and nutritional genomics
Topic 7. Cancer genetics
Topic 8. Genetic counseling and ethics
Topic 9. Treatment of genetic diseases: gene therapy
In case of inconsistency between the different teaching guides, the one that prevails is the teaching guide in Catalan
Unless the requirements enforced by the health authorities demand a prioritization or reduction of these contents
Contents of the subject are oriented to understand: the organization of the human genome; the organization, distribution and function of the RNA genes and genes encoding polypeptides; Tandem and scattered repeat non-coding DNA; Genetics of development; genetic control of embryonic development; congenital defects, sex determination and differentiation; genetic imprinting; inactivation of the X chromosome; Genetic of populations, mutation and genetic polymorphisms in human populations; Human cytogenetics, methods of study and main chromosomal alterations; Genetics and cancer, oncogenes, tumor suppressor genes, and genome stability; Prenatal diagnosis: indications and study techniques, prenatal screenings. Genetic tests in individuals and populations. General diagnostic strategies for genetic diseases. Mutation detection methods. Application of the genetic ligament to diagnosis: indirect diagnosis.
In-person classes: the student acquires the scientific knowledge of the subject by attending theory classes, which will complement the personal study of the topics discussed. Classes are considered unidirectional as a transmission from teacher to student. Although at certain moments a debate or collective reflection is possible.
Classes of problems and seminars: The knowledge developed in the theory classes and worked on in the personal study are applied to the resolution of practical cases and oral presentations in small groups. These types of methodology allow to deepen some of the topics studied in class.
The course will be in-class unless the requirements enforced by the health authorities demand shifting to the online modality. In this case, the format will be adapted to the possibilities offered by the UAB’s virtual tools.
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 | |||
In-person classes | 37 | 1.48 | 2, 4, 6, 5, 7, 10, 9, 8, 11, 12, 14, 15, 16, 17, 3 |
Seminars | 9 | 0.36 | 25, 12, 26 |
Type: Supervised | |||
Individual tutoring | 4 | 0.16 | |
Type: Autonomous | |||
Self-study | 89.5 | 3.58 | 25, 2, 4, 6, 5, 10, 9, 8, 11, 14, 15, 16, 17, 3 |
Team work | 8 | 0.32 | 25, 2, 4, 6, 5, 7, 10, 9, 8, 11, 12, 14, 15, 16, 17, 26, 3 |
a) Two mid-term examinations. These are multiple choice examinations in which short questions can be included. These exams are eliminatory. Each mid-term exam will include approximately 50% of the topics.
In the mid-term exams the minimum mark to be considered for the mean is 5. At the end of the course there is a recovery exam for those students who have not passed some of the partial exams (with marks less than 5), or have not examined to any of the two multiple choice tests.
The average mark of these exams represents 60% of the note mark. Students who have passed the two partial exams and want to take a grade, on the same day of the recovery may take an exam, this will consist of developing two or three topics
b) Examining practical problems: 20% of the final grade.
c) Work prepared in groups of four students: 20% of the final grade. This evaluation will consider: the contents (15%) the oral presentation (5%. The evaluation is individual.
It will be considered that a student will obtain the qualification of “No Avaluable” if the number of assessment activities carried out has a weight inferior to 50% of the final grade.
In case of inconsistency between the different teaching guides, the one that prevails is the teaching guide in Catalan
Student’s assessment will performed face-to-face, unless the requirements enforced by the health authorities demand shifting to the online modality. In this case, the format will be adapted (maintaining its weighting in the final grade) to the possibilities offered by the UAB’s virtual tools.
Title | Weighting | Hours | ECTS | Learning Outcomes |
---|---|---|---|---|
Solvig practical problems, answer short questions, comments on scientific papers | 20% | 2.5 | 0.1 | 1, 24, 12, 22, 21, 18, 19, 26 |
Work team presentation | 20% | 0 | 0 | 1, 24, 23, 12, 13, 22, 20, 18, 19, 26, 3 |
mid-term exams, and final exam | 60% | 0 | 0 | 1, 23, 25, 2, 4, 6, 5, 7, 10, 9, 8, 11, 13, 14, 15, 16, 17, 3 |
Lynn B. Jorde, John C. Carey, Michael J. Bamshad (2016). Medical Genetics. Fihth Edition. Ed Mosby. Elsevier Science. ISBN 978-0-323-39196-2
Nussbaum RL, McInnes RR, Willard HF. (2016). Thompson & Thompson Genetics in Medicine. 8ª Ed. Saunders Elsevier. Philadelphia, EEUU
Strachan T and Read A. (2018). Human Molecular Genetics. CRC Press. Taylor and Francis. ISBN 9780815345893
Strachan T and Godship J Chinnay P (2015). Genetics and genomics in medicine. 5ª Ed, Garland Science London UK
Turnpenny P D Ellard S (2012). Emery's Elements of medical genetics, 14th ed. Churchill Livingstone. Elsevier
Oliva R Oriola F Clària J (2013).Genètica Mèdica. Publicacions i Edicions Universitat de Barcelona. ISBN: 978-84-475-3688-7
Solari AJ (2011). Genética Humana. Fundamentos y aplicaciones en medicina. 4ª edición Editorial Médica Panamericana. Buenos Aires. ISBN: 9789500602693
Tobias ES, Connor M, Ferguson-Smith M (2011). Essential MEDICAL GENETICS.6th Ed.Wiley-Blacwell. ISBN: 978-1-405-16974-5
Speicher MR Antonarakis SE Motulsky AG (2010). Vogel and Motulsky’s Human Genetics: Problems and Approaches. 4th ed Springer-Verlag. Berlin.
•http://www.ncbi.nlm.nih.gov/omim/ Enfermedades con base hereditaria
•http://bioinformatics.weizmann.ac.il/cards/
•http://www.ncbi.nlm.nih.gov/PubMed/
•http://www. Genome.gov
www.gdb.org Datos procedentes del proyecto del genoma humano
geneReviews.org Información completa de enfermedades genéticas
orphanet Información de enfermedades genéticas
There is no specific programmes.