Degree | Type | Year |
---|---|---|
2500890 Genetics | OB | 3 |
You can view this information at the end of this document.
It would be appropriate to have passed and achieved the competences corresponding to the subjects: Cell Biology, Human Genetics, Molecular Cell Biology, Developmental Biology and Teratogeny.
The main objectives are:
Know the genetic basis of the main diseases with a base or genetic component.
Relate the genetic dysfunction with the pathological phenotype.
Perform the genetic interpretation of the diagnosis, prognosis, prevention and therapy of the most frequent genetic pathologies in the human population.
Understand the distribution of genetic-based diseases in a population taking into account their origin.
Analyze genetically the probands-family relationship that facilitates the offert of a genetic counseling.
1. General principles: Self-learning activity
1.1. Basic introduction to genetic diseases
1.2. Predisposition or genetic susceptibility concept
1.3. Genetic counseling
2. Chromosome aberrations
2.1. Autosomal trisomies
2.2. Alterations of sex chromosomes
2.3. Chromosome microdeletions and microduplications
3. Neuromuscular diseases
3.1. Muscular dystrophies: definition and classification
3.2. Duchenne and Becker muscular dystrophies
3.3. Other muscular dystrophies
3.4. Myotonic dystrophy
3.5. Spinal muscular atrophy
4. Mental and behavioural disorders
4.1. Intellectual Disability
4.2. Fragile X syndrome and associated diseases
4.3. Rett syndrome
4.4. Introductio to the genetics of autism spectrum disorder (ASD)
4.5. Introduction to genetics of Schizophrenia
5. Central nervous system diseases
5.1. Huntington's disease
5.2. Alzheimer's disease
5.3. Parkinson's
5.4. Primary tumors of the central nervous system
6. Skeletal and connective tissue diseases
6.1. Osteogenesis imperfecta
6.2. Achondroplasia
6.3. Marfan syndrome
6.4. Sarcoma
7. Craniofacial diseases
7.1. Craniosynostosis
8. Dermatological diseases
8.1. Albinism
8.2. Skin cancer
9. Ophthalmological diseases and deafness
9.1. Color vision deficiency
9.2. Deafness
10. Cardiovascular diseases
10.1. Hypertension
11. Gastrointestinal diseases
11.1. Celiac disease
11.2. Colon cancer
12. Respiratory diseases
12.1. Lung cancer
13. Metabolic diseases
13.1. Alterations in glucose metabolism: lactose intolerance
13.2. Alterations in lipid metabolism: Hypercholesterolemia
13.3. Alterations in amino acid metabolism: Phenylketonuria
14.Hematological diseases
14.1. Hemoglobinopathies
14.2. Haemophilia
14.3. Leukemia and Lymphoma
15. Urogenital diseases
15.1. Polycystic kidney
15.2. Kidney cancer
15.3. Bladder cancer
15.4. Prostate cancer
16. Endocrinological diseases
16.1. Breast cancer
16.2. Diabetes mellitus
Title | Hours | ECTS | Learning Outcomes |
---|---|---|---|
Type: Directed | |||
Lectures | 34 | 1.36 | 4 |
Problem based learning (PBL) | 12 | 0.48 | 2, 3, 4, 5, 6 |
Type: Supervised | |||
Face-to-face and virtual tutorials | 6 | 0.24 | 2, 4 |
Work production | 18 | 0.72 | 2, 3, 4, 5, 6 |
Type: Autonomous | |||
Documentation search | 17 | 0.68 | |
Evaluation | 6 | 0.24 | |
Reading of texts | 19 | 0.76 | 5 |
Study | 38 | 1.52 | 5 |
Lectures: Systematic exhibition of the subject's programme, giving relevance to the most important concepts. The student acquires the basic scientific knowledge of the subject in theory classes, which will complement the personal study of the exposed themes.
Problem based learning (PBL): Students will work in small groups, under the teacher supervision, on specific problems during 3 sessions of 2 hours each one for each case, and a total of 2 cases. At the end of each case, the work will be exposed to the rest of the classmates.
In general, the platform for communication and material transfer used will be Moodle.
"Teachers should allocate approximately 15 minutes of some class to allow their students to answer the surveys of evaluation of teaching performance and evaluation of the subject or module"
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 | Weighting | Hours | ECTS | Learning Outcomes |
---|---|---|---|---|
Exams | 75% | 0 | 0 | 1, 7, 8, 9, 10, 12, 13, 15, 17, 18, 19 |
Problem based learning (PBL) | 25% | 0 | 0 | 1, 2, 3, 4, 5, 6, 11, 14, 15, 16, 18, 19 |
This subject does not include single assessment
The competences of this subject will be evaluated through: exams, group work and public presentations.
The evaluation system is organized in two modules, each of which will have a specific weight assigned in the final qualification:
Evaluation activities |
Recoverable |
Value |
1st part |
Si |
37,5% |
2nd part |
Si |
37,5% |
PBL case 1 |
No |
12,5% |
PBL case 2 |
No |
12,5 |
Total* |
|
100% |
*Requirements to calculate the global qualification
The weighted average of the scores will be applied based on qualifications equal to or greater than 4 in each of the partial exams.
In order to make the average between the partial exams and the PBLs and thus being able to pass the the subject, it will be necessary to obtain an average qualification equal to or greater than 5 in the part corresponding to the partial exams.
Recovery exam / retake process
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 "No Avaluable" if the weighting of all conducted evaluation activities is less than 67% of the final score.
The partial exams can be recovered when the qualification of the exam has been less than 4. The student can do the recovery exam only of the partial suspended.
The type of exams for the recovery might include test exams and/or short questions to ellaborate on.
If the student has to recover both partial exams, the score obtained correspondsto 75% of the qualification of the subject, disappearing the requirement of having to obtain a score greater than or equal to 4 of each of the partial exams. This score will be used to calculate the global qualification along with the other evaluation activities.
Students who wish to improve the qualification of one or both partial exams may do it in the recovery exam, previously renouncing to the qualification obtained in the corresponding partial exam.
Copy and plagiarism
All forms of plagiarism in any evaluation activity and/or copying in an exam are reasons for being awarded an immediate suspend the subject.
To carry out the theoretical classes, programs from the Miscrosoft package will be used, essentially PowerPoint, Adobe pdf, and if videoconferences are necessary, Teams will be used.
Name | Group | Language | Semester | Turn |
---|---|---|---|---|
(SEM) Seminars | 631 | Catalan | second semester | morning-mixed |
(SEM) Seminars | 632 | Catalan | second semester | morning-mixed |
(SEM) Seminars | 633 | Catalan | second semester | morning-mixed |
(TE) Theory | 63 | Catalan | second semester | morning-mixed |