Degree | Type | Year |
---|---|---|
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. Connective tissue diseases
6.1. Marfan syndrome
6.2. Osteogenesis imperfecta
6.3. Sarcoma
7. Craniofacial and skeletal diseases
7.1. Craniosynostosis
7.2. Achondropasia
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 and inflammatory diseases
11.2. Colorectal cancer
12. Respiratory diseases
12.1. Cystic fibrosis
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
16. Endocrinological diseases
16.1. Breast cancer
16.2. Diabetes mellitus
17. Imprinting-related diseases
17.1. Beckwith-Wiedemann and Silver-Russell
Title | Hours | ECTS | Learning Outcomes |
---|---|---|---|
Type: Directed | |||
Lectures | 34 | 1.36 | 4 |
Problem based learning (PBL) | 12 | 0.48 | 2, 4, 6, 5, 3 |
Type: Supervised | |||
Face-to-face and virtual tutorials | 6 | 0.24 | 2, 4 |
Work production | 18 | 0.72 | 2, 4, 6, 5, 3 |
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, 19, 18, 12, 9, 8, 7, 10, 13, 15, 17 |
Problem based learning (PBL) | 25% | 0 | 0 | 1, 19, 18, 2, 4, 6, 11, 14, 15, 16, 5, 3 |
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 only if a grade equal to or higher than 4 is obtained in each of the partial exams.
In order to calculate an average between the partial exams and the PBLs (Problem-Based Learning activities), and consequently to pass the course, a minimum average grade of 5 in the partial exams must be achieved.
The grade "Not Assessable" will be given if the number of assessment activities completed is less than 50% of those scheduled for the course.
Recovery exam / retake process
To participate in the recovery (resit) exam, students must have previously been assessed in a set of activities whose weight is equivalent to at least two-thirds of the total grade for the course. Therefore, students will receive the grade "Not Assessable" if the completed assessment activities account for less than 67% of the final grade.
Partial exams in which the exam score was below 4 can be retaken.
The format of the resit exams may include multiple-choice questions and/or short-answer questions to be developed by the student.
Students who wish to improve the grade of one or both partial exams may do so in the resit exam, but must first waive the previously obtained grade in the corresponding partial exam.
Copy and plagiarism
Copying or plagiarism, whether in assignments or in exams, constitutes an offense that may result in failing the course.
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.
Please note that this information is provisional until 30 November 2025. You can check it through this link. To consult the language you will need to enter the CODE of the subject.
Name | Group | Language | Semester | Turn |
---|---|---|---|---|
(SEM) Seminars | 631 | Catalan | second semester | afternoon |
(SEM) Seminars | 632 | Catalan | second semester | morning-mixed |
(SEM) Seminars | 633 | Catalan | second semester | morning-mixed |
(TE) Theory | 63 | Catalan | second semester | morning-mixed |