Degree | Type | Year | Semester |
---|---|---|---|
2500890 Genetics | OB | 3 | 1 |
To ensure the achievement of the learning aims, it is highly recommended:
1. An appropriate knowledge of the subjects "Cell Biology and Histology", "Genetics" and "Cytogenetics", completed in previous courses of the degree
2. An appropriate knowledge of the techniques used in these disciplines
3. Basic knowledge of basic computer tools
4. Good command in English reading
Sexual reproduction in most species is associated with sex dimorphism and the presence of chromosomes that determine sex. Sex dimorphism is achieved through the participation of specific genes involved in a differential sex development. Mutations in these genes influence normal sex differentiation and therefore the fertility of affected individuals. On the other hand, gametogenesis is a complex and highly regulated process whose alterations can lead to infertility.
The genetic contribution to infertility is difficult to assess. Up to date, it has been established the relationship between several genotype alterations and their effect on fertility. However, except for few diseases (for example cystic fibrosis), these patients do not exhibit any relevant phenotypic traits. In general, the manifestation of infertility of genetic origin is related to a significant reduction in the number of gametes produced, anomalies in embryo development and spontaneous abortions.
In this context, the objectives of the subject will focus on:
1. To establish the genetic causes of human infertility.
2. To provide updated knowledge about the methodologies for the genetic analysis of gametes and embryos.
3. To determine the risk of transmission of those cases of infertility caused by genetic alterations.
4. To establish the basis for reproductive genetic counseling.
SECTION I: GENETIC BASIS OF REPRODUCTION
Topic 1. Sex determination and differentiation in humans
Topic 2. Genetic control of human gametogenesis
SECTION II: GENETIC BASIS OF HUMAN INFERTILITY
Topic 3. Genetic basis of male infertility
Topic 4. Genetic basis of female infertility
SECTION III: GENETIC DIAGNOSIS AND ASSISTED HUMAN REPRODUCTION
Topic 5. Introduction to human-assisted reproduction techniques
Topic 6. Genetic studies in infertile couples
Topic 7. Preimplantational genetic diagnosis
Topic 8. Preconceptional genetic studies in gamete donors and couples with a reproductive desire
Theory classes
The content of the syllabus will be given by the teacher in 22 sessions of 50 minutes with audio-visual support and encouraging the active participation of the students.
Tables, figures, and graphs used in the sessions will be available in pdf format on the corresponding Moddle class. Students will also have access to videos, animations, and recommended websites.
Students will receive detailed bibliography to consolidate the information provided in the classes.
Problem-solving classes
The aims of the sessions are:
In these sessions, the students will be divided into two groups and will work in small groups (four to six people) to resolve the exercises. Students must attend the sessions corresponding to the assigned group. Along the course, each student will complete four sessions of 50 minutes. The organization of the task in the classroom will be done as follows:
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 | |||
Problem solving | 4 | 0.16 | 2, 5, 10 |
Theory classes | 22 | 0.88 | 6, 7, 8, 14, 15, 4 |
Type: Autonomous | |||
Individual study | 27 | 1.08 | 11 |
Problem solving | 16 | 0.64 | 2, 5, 11, 10 |
Students must get a final mark equal to or greater than 5 points (out of 10) to pass the subject
Written exams I and II (individual assessment)
Two written multiple-choice tests will be scheduled to evaluate the degree of achievement of the concepts related to the subject. Students will have to answer it individually.
Each of the tests will have a weight of 40% on the final qualification of the subject. To pass the subject, students must obtain a minimum mark of 4 points (out of 10) of the mean of the two test exams.
Problem-solving (group assessment)
The qualification will be obtained by the mean of the marks obtained in the reports delivered by each team along the course (one problem per report) and in the classroom oral presentations.
The teacher will supervise that at least one presentation was done by each team. A problem not delivered or not resolved in the class will receive a mark of zero. Qualifications will be assigned according to the answers given in the reports, the approach of the solutions, and the interpretation of the results.
The final qualification obtained will be the same for all the members of the team and will weigh 20% of the final qualification of the subject.
Retake exam
There will be a retake exam for those students who have not passed the partial exams (mean of 4 points out of 10) or who have not achieved the minimum mark required to pass the subject (5 points out of 10).
To be eligible for the retake process, the student should have been previously evaluated in a set of activities equalling at least two-thirds of the final score of the course. Thus, the student will be graded as "Not Evaluable" if the weighting of all conducted evaluation activities is less than 67% of the final score.
Students must get at least 4 points (out of 10) in the qualification obtained in the retake exam to make an average with the solving problems marks. The methodology of the retake exam may be different from that used in previous evaluations.
Exam review (contesting of the grade)
The review of the exams will be done on the dates scheduled by the teachers.
Title | Weighting | Hours | ECTS | Learning Outcomes |
---|---|---|---|---|
Problem-solving | 20 | 2 | 0.08 | 1, 17, 16, 2, 11, 13 |
Written examination I | 40 | 2 | 0.08 | 1, 17, 16, 3, 6, 9, 7, 8, 11, 12, 13, 15, 4 |
Written examination II | 40 | 2 | 0.08 | 1, 17, 16, 2, 5, 6, 11, 10, 14, 13, 15, 4 |
Bajo JM, B. Coroleu B. (Eds.) Fundamentos de Reproducción. Editorial Panamericana. Madrid. 2009.
Elder K., Dale B. In vitro fertilization. (3rd edition). Cambridge University Press. New York. 2011.
Fauser B.C.J.M. (Ed.). Molecular Biology in Reproductive Medicine. The Parthenon Publishing Group. New York. 1999
Gardner D.K. et al. (Eds.). Textbook of assisted Reproductive Techniques. Martin Dunitz Pub. Hampshire. 2001.
Harper J. (Ed.) Preimplantation Genetic Diagnosis. (2nd Edition). Cambridge University Press. New York (USA).2009.
Johnson M.H. and Everitt B.J. (Eds.) Essential Reproduction. 5th Edition. Blackwell Science. Oxford. 2005.
Matorras R, Hernández J. (Eds.). Estudio y tratamiento de la pareja estéril. Adalia. Madrid. 2007.
Specific review articles will be recommended during the course.
To follow the course, students must regularly consult documents in pdf format.