| Study programme competencies |
| Code | Study programme competences |
| A2 | 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 |
| Learning aims | |||
| Learning outcomes | Study programme competences | ||
| Capacidad de realizar análisis genéticos tanto a nivel molecular como en la identificación de enfermedades genéticas mediante estudios familiares. Capacidad de realizar diagnóstico genético. | AR2 AR6 AR8 AR11 AR12 |
BR1 BR3 BR5 BR6 BR8 |
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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 |
| LECTURE 3. CHROMOSOMES AND CLINICAL SYNDROMES | The human karyotype Mitotic and meiotic alterations: non-disyunction Changes in Number and structure of the chromosomes Mosaics |
| LECTURE 4. MODES OF INHERITANCE | Familiar studies Mendelian inheritance Multiple alleles Complex inheritance Anticipation, expressivity, penetrance, mosaicism, mitochondrial inheritance and dynamic mutations |
| TEMA 4. ENFERMEDADES POLIXÉNICAS E MULTIFACTORIAIS. | Polixenes e variacións no fenotipo. Heredabilidade. |
| LECTURE 5. GENES AND CANCER. | Oncogenes and tumor supressor genes Germline mutations: familiar cancer Somatic cancer genetics |
| LECTURE 6. GENE THERAPY | Somatic and germinal gene therapy. Gene therapy vectors and nonviral vectors Ex vivo and in vivo methods. |
| LABORATORY PRACTICES | 1. The human karyotype and the identification of chromosome alterations. 2. Bioinformatics: search and comparison of DNA sequences. Databases and genome browsers |
| Planning | ||||
| Methodologies / tests | Competencies | Ordinary class hours | Student’s personal work hours | Total hours |
| Guest lecture / keynote speech | A6 A11 A12 | 14 | 21 | 35 |
| Laboratory practice | A2 A8 B1 B3 B5 B6 B8 | 14 | 7 | 21 |
| Student portfolio | A6 A8 A11 B3 B5 | 0 | 13 | 13 |
| Mixed objective/subjective test | B1 B5 | 2 | 0 | 2 |
| Personalized attention | 4 | 0 | 4 | |
| (*)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 | En cada clase se expondrán contenidos relacionados con diferentes aspectos del temario. El profesor explicará los contenidos fundamentales de cada tema y señalará las actividades asociadas al mismo. |
| Laboratory practice | Las clases prácticas consistirán de una explicación por parte del profesor sobre las bases conceptuales y los objetivos a alcanzar y el desarrollo de tareas por parte del alumno. Se pretende que el alumno tenga la máxima autonomía, facilitándole medios y orientación. |
| Student portfolio | Los estudiantes contestarán a unas fichas que les serán entregadas por los profesores sobre diferentes aspectos teóricos y prácticos de la materia. |
| Mixed objective/subjective test | Prueba escrita en la que se tratará cualquier aspecto abordado en la docencia tanto teórica como práctica. |
| Personalized attention |
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|
| Assessment | |||
| Methodologies | Competencies | Description | Qualification |
| Student portfolio | A6 A8 A11 B3 B5 | Se valorará el grado de comprensión, análisis, calidad y claridad en las respuestas y el tratamiento de las cuestiones y problemas planteados. Se evaluarán las competencias específicas A3, A9 y A11 |
30 |
| Mixed objective/subjective test | B1 B5 | Se valorará el dominio de conceptos teóricos y prácticos, claridad en las explicaciones, capacidad de relacionar e integrar la información recibida tratada en las sesiones magistrales y en las prácticas de laboratorio y bioinformática, y cpacidad de resolver cuestiones y problemas. Se evaluarán las competencias específicas A3, A9 y A11 |
40 |
| Laboratory practice | A2 A8 B1 B3 B5 B6 B8 | Se valorará el conocimiento sobre el significado de las tareas realizadas, y la interpretación de los resultados obtenidos. Se evaluarán las competencias específicas A3 y A4 |
30 |
| Assessment comments | |||
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Se considerará NO PRESENTADO cuando el estudiante no haya realizado NINGUNA de las actividades/metodologías propuestas. |
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| Sources of information |
| Basic |
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 |
| Complementary |
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 |
| Recommendations | |||
| Subjects that it is recommended to have taken before |
| Subjects that are recommended to be taken simultaneously | ||
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| Subjects that continue the syllabus | |||
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| Other comments | |