Study programme competencies |
Code
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Study programme competences / results
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A1 |
Skills of working in a sure way in the laboratories knowing operation handbooks and actions to avoid incidents of risk. |
A6 |
Skills of understanding the functioning of cells through the structural organization, biochemistry, gene expression and genetic variability. |
A8 |
Skills of having an integrated view of the previously acquired knowledge about Molecular and Cellular Biology and Genetics, with an interdisciplinary approach and experimental work. |
A11 |
Skills of understanding the structure, dynamics and evolution of genomes and to apply tools necessary to his study. |
A12 |
Skills to understand, detect and analyze the genetic variation, knowing genotoxicity processes and methodologies for its evaluation, as well as carrying out diagnosis and genetic risk studies. |
B1 |
Analysis skills to understand biological problems in connection with the Molecular and Cellular Biology and Genetics. |
B3 |
Skills of management of the information: that are able to gather and to understand relevant information and results, obtaining conclusions and to prepare reasoned reports on scientific and biotechnological questions |
B5 |
Correct oral and written communication on scientific topics in the native language and at least in another International diffusion language. |
B6 |
Skills of team work: that are able to keep efficient interpersonal relationships in an interdisciplinary and international work context, with respect for the cultural diversity. |
B8 |
Critical reasoning skills and ethical commitment with the society: sensitivity in front of bioethical problems and to the ones related to the natural resource conservation |
C1 |
Adequate oral and written expression in the official languages. |
Learning aims |
Learning outcomes |
Study programme competences / results |
Capacidad de realizar análisis genéticos tanto a nivel molecular como en la identificación de enfermedades genéticas mediante estudios familiares.
Capacidad de realizar diagnóstico genético.
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AR1 AR6 AR8 AR11 AR12
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BR1 BR3 BR5 BR6 BR8
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CC1
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Contents |
Topic |
Sub-topic |
Lecture 1. THE HUMAN GENOME: SEQUENCE AND VARIATION |
Functional elements
Protein-coding genes
Non-coding, RNA-only genes
Repetitive elements
Mitochondrial genome
Genomic variability
Epigenetics
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LECTURE 3. CHROMOSOMES AND CLINICAL SYNDROMES |
The human karyotype
Mitotic and meiotic alterations: non-disyunction
Changes in Number and structure of the chromosomes
Mosaics
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LECTURE 3. GENES AND CANCER |
Oncogenes and tumor supressor genes
Germline mutations: familiar cancer
Somatic cancer genetics
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LECTURE 4. FORENSIC GENETICS |
DNA fingerprinting |
LECTURE 5. EVOLTION OF HUMAN POPULATIONS |
Genetic diversity
Mitochondial and nuclear inheritance |
LECTURE 6. GENETIC DISEASES |
Familiar studies
Mendelian inheritance
Multiple alleles
Complex inheritance
Anticipation, expressivity, penetrance, mosaicism, mitochondrial inheritance and dynamic mutations
hEREDABILITY |
LABORATORY PRACTICES |
1- Pedigrees
2- Genetic polymorphism analyses
3- Phylogenies
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Planning |
Methodologies / tests |
Competencies / Results |
Teaching hours (in-person & virtual) |
Student’s personal work hours |
Total hours |
Guest lecture / keynote speech |
A6 A11 A12 |
12 |
18 |
30 |
Laboratory practice |
A1 A8 B1 B3 B5 B6 B8 |
14 |
7 |
21 |
Mixed objective/subjective test |
B1 B5 |
2 |
0 |
2 |
Practical test: |
A6 B1 B3 C1 |
2 |
0 |
2 |
Online discussion |
A6 A8 A11 B3 B5 |
2 |
14 |
16 |
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Personalized attention |
|
4 |
0 |
4 |
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(*)The information in the planning table is for guidance only and does not take into account the heterogeneity of the students. |
Methodologies |
Methodologies |
Description |
Guest lecture / keynote speech |
In each class, contents related to different aspects of the syllabus will be exposed. The teacher will explain the fundamental contents of each topic and indicate the activities associated with it.
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Laboratory practice |
The practical classes will consist of an explanation on the part of the professor on the conceptual bases and the objectives to reach and the development of tasks on the part of the student. It is intended that the student has maximum autonomy, facilitating means and guidance. |
Mixed objective/subjective test |
Written test in which any aspect addressed in both theoretical and practical teaching will be discussed.
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Practical test: |
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Online discussion |
Students will read one or two recent articles on genetic diseases and prepare a presentation that they will defend in a time of 10-12 minutes. The consulted bibliography will be valued, synthesis capacity, oral expression and argumentation.
In the case of non-contact students, they must do the same activity, substituting the oral presentation for a written work of no more than 4 pages.
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Personalized attention |
Methodologies
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Mixed objective/subjective test |
Guest lecture / keynote speech |
Laboratory practice |
Online discussion |
Practical test: |
|
Description |
Alumnado PRESENCIAL: O alumnado podrá acudir as tutorías dos profesores noss horarios previamente establecidos ou consensuados cosalumnos e alumnas da materia.
Alumnado SEMIPRESENCIAL: solicitará tutoría e será atendido vía correo electrónico ou plataforma Moodle.
PLAN DE CONTINXENCIA: en caso de confinamento o alumnado solicitará turoría e se fará vía TEAMS ou correo electrónico, tanto para o alumnado PRESENCIAL como SEMIPRESENCIAL.
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Assessment |
Methodologies
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Competencies / Results |
Description
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Qualification
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Mixed objective/subjective test |
B1 B5 |
The domain of theoretical and practical concepts will be valued, clarity in the explanations, capacity to relate and integrate the information received treated in the magisterial sessions and in the laboratory and bioinformatics practices, and capacity to solve questions and problems. |
40 |
Laboratory practice |
A1 A8 B1 B3 B5 B6 B8 |
It will be valued the knowledge about the meaning of the tasks carried out, and the interpretation of the results obtained. |
15 |
Online discussion |
A6 A8 A11 B3 B5 |
Students will prepare a 10-minute presentation on a genetic disease.
The students will not be present and will do the power point activity as well as the written memory of the work. |
30 |
Practical test: |
A6 B1 B3 C1 |
The knowledge acquired during the laboratory practices will be valued. |
15 |
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Assessment comments |
Se considerará NO PRESENTADO cuando el estudiante no haya realizado NINGUNA de las actividades/metodologías propuestas.
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Sources of information |
Basic
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Pasternak, Jack (2005). An introduction to human molecular genetics. Hoboken, New Jersey. John Wiley & Sons
Strachan, T. & Read, A.P. (2004). Genética Molecular Humana (3ª ed). McGrawHill, México.
T Strachan, AP Read (2010). Human Molecular Genetics 4th ed.. Garland Science |
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Complementary
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King, Roger (2000). Cancer biology (2º ed). Essex, UK. Pearson Education Limited
Novo Villaverde, F.J. (2007). Genética humana. Conceptos, mecanismos y aplicaciones de la Genética en el campo de la biomedicina. . Pearson, Prentice Hall. Madrid.
Jorde, L.B. Carey, J.C. & White, R.L. (1996). Genética Médica.. Mosby.
Sudbery, P. 2004. (2004). Genética molecular humana. . Pearson, Prentice Hall. 2ª ed. Madrid.
Jobling, M.A.; Hurles, M.E. ; Tyler-Smith, C. (2004). Human evolutionary genetics: origins, peolples & disease. New York, Garland Plublishing
Vogel, F. & Motulsky, A.G. (1997). Human Genetics: Problems and Approaches (3th ed). Springer Verlag, Heidelberg, Germany
Cummings, Michael R. (2003). Human heredity: principles and issues. Pacific Grove, California. Thompson
Maroni, G. (2001). Molecular and Genetic Analysis of Human Trait.. Blackwell Science. Malden, MA, USA.
Pecornio, Lauren (2005). Molecular biology of cancer. Oxford, UK. Oxford University Press
Emery, A.E.H. & Mueller, R.F. (1992). Principios de Genética Médica.. Churchill Livingstone.
McKinnell R.; Parchment, R. et al (2006). The biological basis fo cancer (2º ed). Cambridge, NY. Cambridge University Press |
O alumnado PRESENCIAL E SEMIPRESENCIAL, e recibirá por parte
dos profesores da materia webgrafía reciente e artículos de revisión
para preparar axeitadamente a materia. PLAN DE CONTIXENCIA: se aplicará o mesmo tratamento (proporcionaremos webgrafía axeitada) na plataforma Moodle. |
Recommendations |
Subjects that it is recommended to have taken before |
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Subjects that are recommended to be taken simultaneously |
Immunology/610441008 | Stem Cells and Cell Therapy/610441009 |
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Subjects that continue the syllabus |
Cellular Techniques/610441001 | Molecular Techniques/610441002 | Genetic Variation Mechanisms/610441005 |
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