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Medical Genetics

Code: 107578
Credits: 6
2026/2027
Degree programme Type Course
Genetics OB 3

Contact lecturer

Name :
Mariona Terradas Ill
Email :
mariona.terradas@uab.cat

Teaching staff

Jordi Ribas Maynou
Maria Oliver Bonet
Jordi Camps Polo
Ariadna Delgado Bermudez

Group languages

You can consult this information at the end of the document.

Prerequisites

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.

Objectives

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.

Learning outcomes

  • CM21 (Integrate genomic knowledge in the resolution of complex problems of human health, diagnosis and treatment.) Integrate genomic knowledge in the resolution of complex problems of human health, diagnosis and treatment.
  • CM22 (Evaluate the scientific validity and ethical-legal implications of genetic testing and advanced therapies.) Evaluate the scientific validity and ethical-legal implications of genetic testing and advanced therapies.
  • CM23 (Adapt communication on diagnosis, prevention and genetic counselling strategies to the needs of different audiences and social contexts.) Adapt communication on diagnosis, prevention and genetic counselling strategies to the needs of different audiences and social contexts.
  • KM16 (Describe genetic diagnosis and counseling strategies, as well as the basis of chromosomal and molecular alterations relevant to human health.) Describe genetic diagnosis and counseling strategies, as well as the basis of chromosomal and molecular alterations relevant to human health.
  • KM17 (Describe the principles of population genetics and human evolution, as well as their applications in the forensic and biomedical fields.) Describe the principles of population genetics and human evolution, as well as their applications in the forensic and biomedical fields.
  • SM20 (Interpret the genetic basis of human pathologies and the therapeutic response, integrating the gender perspective and bioethical implications. .) Interpret the genetic basis of human pathologies and the therapeutic response, integrating the gender perspective and bioethical implications. .
  • SM21 (Prepare reports on scientific advances in diagnosis, genetic counselling and biotechnological therapies based on the literature review.) Prepare reports on scientific advances in diagnosis, genetic counselling and biotechnological therapies based on the literature review.

Contents

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

12.2. Alfa-1 antitrypsin deficiency


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



Learning activities and methodology

Title Hours ECTS Learning outcomes
Work production 18 0.72 CM21, CM22, CM23, KM16, KM17, SM20, SM21
Evaluation 6 0.24 CM21, CM22, CM23, KM16, KM17, SM20, SM21
Problem based learning (PBL) 12 0.48 CM21, CM22, CM23, KM16, KM17, SM20, SM21
Face-to-face and virtual tutorials 6 0.24 CM21, CM22, CM23, KM16, KM17, SM20, SM21
Lectures 34 1.36 CM21, CM22, CM23, KM16, KM17, SM20, SM21
Study 38 1.52 CM21, CM22, CM23, KM16, KM17, SM20, SM21
Reading of texts 19 0.76 CM21, CM22, CM23, KM16, KM17, SM20, SM21
Documentation search 17 0.68 CM21, CM22, CM23, KM16, KM17, SM20, SM21

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.

Assessment

Continuous assessment activities

Title Weight Hours ECTS Learning outcomes
Problem based learning (PBL) 25% 0 0 CM21, CM22, CM23, KM16, KM17, SM20, SM21
Exams 75% 0 0 CM21, CM22, CM23, KM16, KM17, SM20, SM21

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:

  • Problem Based Learning Module (ABP) (25%). The aspects that will be taken into account for the qualification will be: the interest and the quality of the work demonstrated throughout the development of the case for each one of the students and the group, and the final presentation. In the case of repeating students, if the qualification of this learning evidence in previous courses was equal to or greater than 5, they can renounce to repeat the activity and this qualification will be used to calculate the global grade of the subject. Due to the characteristics of the activity, this learning evidence is not recoverable.
  • Written test module (75%). There will be two exams, each one corresponding to a half of the subject taught in lecture sessions. Exams will be test type with four multiple-choice options.
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. However, 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.

The format of the resit exams may include multiple-choice questions and/or short-answer questions to be developed by the student.



Copy and plagiarism

Copying or plagiarism, whether in assignments or in exams, constitutes an offense that may result in failing the course.

Any irregularity committed in an assessment activity (including academic fraud, plagiarism, or the improper use of AI, unless such use is explicitly authorized in the course syllabus) that may lead to a significant change in the grade will result in that assessment being awarded a mark of 0. If the course syllabus establishes that obtaining a minimum mark in that assessment is an essential requirement to pass the course, or if multiple irregularities are committed in the assessment activities of the same course, the final grade for the course will be 0. In addition, disciplinary proceedings may be initiated against any student who commits any of these irregularities.

Bibliography

Software

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.

Course groups and languages

The information provided is provisional until November 30. After this date, you will be able to consult the language of each group through this link. To access the information, you will need to enter the course CODE