
Medical Genetics
Code: 107578Credits: 6
| 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\"
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
- Donalson P, Daly A, Ermini L i Bevitt D. Genetic of complex desease. Editorial Garland Science, 2016
- Farreras-Rozman. Medicina interna. Editorial Elsevier, Vol, 1 i 2, 2009
- Gardner R.J.M. i Sutherland G.R. Chromosome abnormalities and Genetic Counseling, 5a ed. Oxford Monographs on Medical Genetics. Editorial Oxford University Press, 2011
- Lee, R.J., Abramson, J.S I Goldson, R.A. Case studies in cancer. Ed. W. W. Norton & Company. 2019
- Read A. i Donnai D. New Clinical Genetics. Editorial Scion Publishing Ltd, 2011
- Rimon D.L. Emery and Rimoin's principles and practice of medical genetics, 5a ed. Editorial Churchill Livingstone. Vol 2-3, 2006
- Rooney D.E. i Czepulkowski B.H. Human cytogenetics : constitutional analysis : a practical approach. 3a ed. Oxford University Press 2001
- Rooney D.E. i Czepulkowski B.H. Human cytogenetics : malignacy and acquired abnormalities : a practical approach. 3a ed. Oxford University Press 2001
- Saudubray JM., Inborn metabolic diseases: diagnosis and treatment. 7th ed. Springer. 2022
- Scriver Ch.R., et al. The Metabolic & molecular bases of inherited disease, 8th ed. Editorial MacGraw-Hill, NewYork, 2001
- Stracher T., et al. Genetics and Genomics in Medicine, 1st ed. Garland Science, 2014
- Turnpenny, PD., et al. Emery's elements of medical genetics and genomics, 16th ed. Elsevier. 2022.
- Weinberg, R.A. The Biology of Cancer. Garland Science, 2a ed. (2014)
- eBooks:
- The Biology of Cancer
- Molecular and Cell Biology of Cancer
- Molecular Genetics & Genomic Medicine
- Genomic and Personalized Medicine
- Thompson y Thompson. Genética en medicina (8a. ed.)
- Human Chromosomes: an Illustrated Introduction to Human Cytogenetics.
- Cytogenetic and genome research
- Haemoglobinopathy Diagnosis
- Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
- Oxford Desk Reference: Clinical Genetics and Genomics
- Harper's Practical Genetic Counselling, Eighth Edition
- Essentials of genomic and personalized medicine [Recurs electrònic]
- Genética Médica
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