Laboratory practices are mandatory.

To pass the subject, the student must obtain at least 50% of the score assigned to the mixed test and another 50% of that of the laboratory practices.

It will be considered NOT PRESENTED when the student has not participated in more than 20% of the scheduled assessable activities. This criterion applies to the June call. In the July call, to obtain the grade NOT PRESENTED, it will be enough to not appear for the objective tests (theory and practical exams).

For the evaluation of the July call, the student, in addition to the theory and practical exams, must present the power point presentation of the oral presentation. In the event that this activity was already evaluated in the previous call, the grade obtained will remain for July.

For students with part-time dedication and exemption from attendance, the teacher will adopt the measures that he deems appropriate to avoid damaging her grade (flexibility in the delivery dates of the assessable activities). Instead of the oral presentation, these students will make a 2-3 page summary that must be delivered in pdf to the teacher for evaluation.

The fraudulent performance of the tests or evaluation activities will directly imply the application of the current regulations of the UDC

Learning outcomes	Study programme competences
Capacidade de realizar análise xenéticos tanto a nivel molecular como na identificación de enfermedades xenéticas mediante estudos familiares. Capacidade de realizar diagnóstico xenético.	AR1 AR6 AR8 AR11 AR12	BR1 BR3 BR5 BR6 BR8	CC1 CC9

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 3. GENES AND CANCER	Oncogenes and tumor supressor genes Germline mutations: familiar cancer Somatic cancer genetics
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

Methodologies / tests	Competencies	Ordinary class hours	Student’s personal work hours	Total hours
Guest lecture / keynote speech	A8 A11 A12 B1 B8	12	18	30
Laboratory practice	A1 A6 B3 B5 B6 C1 C9	14	7	21
Mixed objective/subjective test	A1 A5 A7 A11 B1 B2 B3 B4 B6 B7 B8 B9 B10 B12 B13 C1 C3 C4 C6 C7 C8	2	0	2
Practical test:	A1 A5 A7 A11 B1 B2 B3 B4 B5 B6 B8 B9 B10 B12 B13 C1 C3 C4 C6 C7 C8	2	0	2
Oral presentation	A1 B1 B2 B3 B4 B5 B6 B7 B8 B9 B10 B11 B12 B13 C1 C3 C4 C6 C7 C8	2	14	16

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	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.
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.
Practical test:	A written test will be carried out to evaluate the knowledge acquired during the laboratory practices
Oral presentation	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.

Methodologies	Competencies	Description	Qualification
Mixed objective/subjective test	A1 A5 A7 A11 B1 B2 B3 B4 B6 B7 B8 B9 B10 B12 B13 C1 C3 C4 C6 C7 C8	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 A6 B3 B5 B6 C1 C9	It will be valued the knowledge about the meaning of the tasks carried out, and the interpretation of the results obtained.	15
Oral presentation	A1 B1 B2 B3 B4 B5 B6 B7 B8 B9 B10 B11 B12 B13 C1 C3 C4 C6 C7 C8	Students will prepare a 10-minute presentation on a topic related to any of the content covered in the subject.	30
Practical test:	A1 A5 A7 A11 B1 B2 B3 B4 B5 B6 B8 B9 B10 B12 B13 C1 C3 C4 C6 C7 C8	The knowledge acquired during the laboratory practices will be valued.	15

Assessment comments
Laboratory practices are mandatory. To pass the subject, the student must obtain at least 50% of the score assigned to the mixed test and another 50% of that of the laboratory practices. It will be considered NOT PRESENTED when the student has not participated in more than 20% of the scheduled assessable activities. This criterion applies to the June call. In the July call, to obtain the grade NOT PRESENTED, it will be enough to not appear for the objective tests (theory and practical exams). For the evaluation of the July call, the student, in addition to the theory and practical exams, must present the power point presentation of the oral presentation. In the event that this activity was already evaluated in the previous call, the grade obtained will remain for July. For students with part-time dedication and exemption from attendance, the teacher will adopt the measures that he deems appropriate to avoid damaging her grade (flexibility in the delivery dates of the assessable activities). Instead of the oral presentation, these students will make a 2-3 page summary that must be delivered in pdf to the teacher for evaluation. The fraudulent performance of the tests or evaluation activities will directly imply the application of the current regulations of the UDC

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
	Teachers will recommend recent scientific articles to prepare and expand the content of the subject. The articles will be hosted on the Moodle platform from the beginning of the course.
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
	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.