ECTS credits ECTS credits: 4.5
ECTS Hours Rules/Memories Student's work ECTS: 74.25 Hours of tutorials: 2.25 Expository Class: 18 Interactive Classroom: 18 Total: 112.5
Use languages Spanish, Galician
Type: Ordinary Degree Subject RD 1393/2007 - 822/2021
Center Faculty of Biology
Call: Second Semester
Teaching: Sin Docencia (En Extinción)
Enrolment: No Matriculable (Sólo Planes en Extinción)
Knowledge of the essential concepts for the understanding of the structure, organization, expression and evolution of the human genome. Knowledge of the fundamental methodologies for the genetic analysis of the human genome, integrating traditional methodologies with those of the latest generation, capable of globally analyzing genomes. Knowledge of the fundamentals of genetic-statistical methodologies used in cutting-edge research for the identification of genes involved in common human diseases with a complex genetic base. Perspective of the relevance of human genetics for the understanding of human life and the evolution of human populations. Perspective of current and potential applications of human genetics in biomedicine and its impact on society. The learning obtained will provide the student with the ability to understand scientific publications specialized in human genetics and the necessary basis to address problems related to human genetics in new environments, either in the professional field or at the Master's and Doctorate levels.
- Theoretical classes (26 hours)
1. Introduction: Human Genetics Overview. 1h
2. Mendelian inheritance models: autosomal and sex-linked genes. 4 hours
3. Animal models. 3 hours
4. Inheritance of complex characters. 4 hours
5. Genetics of cancer. 4 hours
6. Genetic counseling. 3 hours
7. Stem cells. 4 hours
8. Congenital defects. 3hs
- Seminars (10 hours)
Topics related to what was explained in the lectures will be dealt with: practical cases, examples of current research, etc.
- Practices: Practical case of an animal model for a human syndrome (3 hours)
Use of bioinformatics tools and databases in the study of human diseases: homology, databases of proteins, genomes, genetic databases of diseases (Uniprot, Ensembl or OMIM).
- Tutorials (2 hours)
Group work will be carried out (3-4 students) that will be presented in poster format and orally in 10-minute presentations per group, with a debate at the end of each session. The topics will be current and 3 main topics related to Human Genetics will be proposed for the realization of the works
- Exam (2 horas)
Basic
- Brown, T.A., 2008. Genomas. 3ª ed. Buenos Aires: Editorial Médica Panamericana.
- Krebs, J.E., Goldstein, E.S. and Kilpatrick, S.T., 2012. Lewin Genes: fundamentos. 2ª ed. Buenos Aires: Editorial Médica Panamericana.
- Rosenberg L.E. and Rosenberg D.D., 2012. Human Genes and Genomes. Science, Health, Society. Amsterdam: Elsevier.
- Solari, A.J., 2011. Genética Humana: fundamentos y aplicaciones en medicina. 4ª ed. Buenos Aires: Editorial Médica Panamericana.
- Strachan, T. and Read, A.P., 2006. Genética Humana. 3ª ed. México: McGraw-Hill Interamericana.
Complementary
-Schaaf, C. 2011. Human Genetics: From Molecules to Medicine. Wilkins & Williams.
- Vogel, F., Motulsky, A.G., Speicher, M.R. and Antonarakis, S.E. eds., 2010. Vogel and Motulsky’s human genetics: problems and approaches. 4th ed. Berlin: Springer.
All the general and basic competences of the Degree will be worked on in this subject.
Transversal
CT1 - Capacity for analysis and synthesis.
CT2 - Capacity for reasoning and argumentation
CT3 - Ability to work in a group and cover problematic situations collectively
CT4 - Ability to obtain adequate, diverse and updated information
CT5 - Ability to develop and present an organized and understandable text
CT6 - Ability to make a presentation in public in a clear, concise and coherent way
CT7 - Commitment to the veracity of the information offered to others
CT8 - Ability to handle ICTs
CT9 - Use of bibliographic information and the Internet
CT10 - Use of information in a foreign language
CT11 - Ability to solve problems through the integrated application of their knowledge
Specific
CE6.c - Area of competence: Human biology, inheritance and evolution: Hereditary material
CE6.d - Area of competence: Human biology, inheritance and evolution: Evolution and diversity of the human species
CE6.e - Area of competence: Human biology, inheritance and evolution: Genetic and evolutionary analysis
CE7.a - Area of competence: Biotechnology and biomedicine: Biological bases of diseases
CE7.g - Field of competence: Biotechnology and biomedicine: Clinical and molecular analysis methods
All teaching will be taught in person according to the schedule approved by the center.
EXPOSITIVE TEACHING
In the lectures, the specific contents of the program will be dealt with and for its development any material that helps and facilitates the understanding of the concepts that are dealt with (PowerPoint presentations, videos, animations, blackboard ...) will be used.
INTERACTIVE TEACHING
- Practical classes: They have a specific script that the teacher will present at the beginning of the practice to the group of students. At the end of the practice the students will deliver a memory of the same
- Seminars: Students will have material related to the theoretical concepts of practical and clinical cases, which will be discussed in the seminar classes.
The evaluation system will be the same for both opportunities.
The evaluation system combines in a complementary way continuous evaluation (30% of the grade) and a final exam or test (70% remaining) and will be the same for all opportunities. The continuous evaluation of each student will be carried out through the results obtained in practice (10%) and in small group tutoring (20%), both mandatory and evaluable. Attendance at the different activities will be mandatory and they will be monitored through participation lists. The same instruments will be used to evaluate competencies according to the following scheme:
- In the exam the competences are evaluated: CB1, CB2, CG3, CG5, CT1, CT2, CT5, CT11, CE6. c, CE6.d, CE6.e, CE7.a, CE7. g
- In practice: CB5, CG2, CG5, CT8, CT9, CT10, CT11, CE7. g.
- In group tutoring: CB3, CB4, CG2, CG4, CG5, CT3, CT4, CT5, CT6, CT7, CT8, CT9, CT10, CT11, CE7.a, CE7. g
The final exam will be face-to-face on the dates established by the center.
REPEATING STUDENTS
Continuous assessment and a final exam are also combined for their qualification. The continuous assessment will account for 30% of the final grade and will correspond to the score in this section that the student obtained in the course in which he / she enrolled for the first time in the case of practices, while the grades of the Tutorials are not retain having to redo them. The remaining 70% will correspond to the final test grade. The methodology used will be the same as that applied to first-time students.
NOTE:
SCHEDULE: The marks obtained in Practices and Tutorials will be counted as long as a minimum qualification of 5.0 (scale from 0 to 10) has been obtained in the final theory exam.
PARTIAL EXAMS WILL NOT BE PERFORMED
Presential hours: 43 h
26h Theoretical classes
3h Practices
2h Exam
10h Seminars
2h Turorials
Non presential hours: 69,5h
40h Individual study
23,5h Preparation of group work
6h Literature review
TOTAL VOLUME OF WORK HOURS: 112,5H
Consultation of the selected bibliography.
Make use of the tutorials.
In cases of fraudulent performance of exercises or tests, the provisions of the Regulations for the evaluation of the academic performance of students and the review of qualifications will apply.