
Human Genetics
Code: 107577Credits: 6
| Degree programme | Type | Course |
|---|---|---|
| Genetics | OB | 3 |
Contact lecturer
- Name :
- Gemma Armengol Rosell
- Email :
- gemma.armengol@uab.cat
Group languages
You can consult this information at the end of the document.
Prerequisites
To have some basic knowledge on Genetics.
Objectives
Human Genetics studies the phenomena of heredity and variation both normal and pathological on human species. It is a fundamental and applied subject that integrates all levels of organization, from molecular genetics to evolution genetics.
The main objectives of this course are: understanding the rules and the mechanisms of inheritance, the knowledge of genome variability (normal and pathological) in individuals and human populations and the factors responsible for it, the ability to perform tests for genetic diseases, knowing their treatment and ethical aspects that are derived from treatment, and finally the application of knowledge obtained for development of research projects.
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.
- SM19 (Apply molecular, cytogenetic, and computational techniques in genetic diagnosis and human forensic identification.) Apply molecular, cytogenetic, and computational techniques in genetic diagnosis and human forensic identification.
- 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
Chapter 1. Organization of the human genome
Chapter 2. Chromosomal alterations
Chapter 3. Mutations and polymorphisms .
Chapter 4. Mapping and identifying genes related to diseases
Chapter 5. Epigenetics
Chapter 6. Developmental genetics
Chapter 7. Cancer Genetics
Chapter 8. Pharmacogenetics
Chapter 9. Nutritional Genomics
Chapter 10. Forensic Genetics
Chapter 11. Prenatal Diagnosis
Chapter 12. Tests for genetic diseases and genetic counseling
Chapter 13. Treatment of genetic diseases
Chapter 14. Ethical issues in human genetics
Learning activities and methodology
| Title | Hours | ECTS | Learning outcomes |
|---|---|---|---|
| Personal study | 45 | 1.8 | CM21, CM22, CM23, KM16, KM17, SM19, SM20, SM21 |
| Sessions with all students | 30 | 1.2 | CM21, CM22, KM16, KM17, SM19, SM20 |
| Report writing | 15 | 0.6 | CM21, CM22, CM23, KM16, KM17, SM20, SM21 |
| Tutorials | 5 | 0.2 | CM21, CM23, SM19, SM21 |
| Text reading | 17 | 0.68 | SM21 |
| Problem preparation | 15 | 0.6 | CM21, KM16, SM20 |
| Seminars | 15 | 0.6 | CM21, CM22, CM23, KM16, KM17, SM19, SM20, SM21 |
| Document research | 5 | 0.2 | SM20, SM21 |
The teaching methodology will benefit from the tools provided by the Virtual Campus of the UAB. To achieve the objectives of the subject, three types of learning activities are proposed: sessions with the all students, seminars with half of the students and autonomous work in groups on an scientific paper.
- Sessions with all students: The students acquire their own knowledge of the subject attending the classes, complementing them with the personal study. The sessions combine content delivery with active learning methodologies designed to encourage student participation to establish discussions or collective reflections, using Information and Communications Technologies and Learning and Knowing Technologies. In the classes, digital presentations are used to help the understanding of the contents, which are available on the UAB virtual campus.
- Seminars: The knowledge developed in sessions with all students and worked in the personal study is applied to the resolution of practical cases and in the discussion of original research papers published in international journals. Practical cases arise in the form of problems or questions, which are worked on small groups. These type of methodology allow us to reinforce and deepen the topics studied in the sessions with all students.
- Autonomous work in small groups on an article: It is proposed to carry out a cooperative work in small groups that is prepared outside the classroom and that involves tasks of documentation and group discussion on a topic of human genetics. Tutorials will guide students on how to do this work.
Assessment
Continuous assessment activities
| Title | Weight | Hours | ECTS | Learning outcomes |
|---|---|---|---|---|
| Written test I | 30% | 1.5 | 0.06 | CM21, CM22, CM23, KM16, KM17, SM19, SM20 |
| Working in groups | 20% | 0 | 0 | CM22, KM16, KM17, SM19, SM20, SM21 |
| Handling works performed in the classes | 20% | 0 | 0 | CM21, CM22, KM16, KM17, SM19, SM20 |
| Written test II | 30% | 1.5 | 0.06 | CM21, CM22, CM23, KM16, KM17, SM19, SM20 |
a) Two written tests: each test is 30% of the final mark. The minimum mark to pass the subject will be 5 in each test.
b) Handling works performed in the classes: 20% of the final grade. There are evaluable works in some classes.
c) Work in small groups: 20% of the final mark. In this evaluation we will take into account: the oral presentation (5%), the work (15%) and the adjustment to the limited time. The evaluation of the oral presentation will be individual but the others will be common to all the members of the group.
To be able to pass the subject, the minimum mark is 5. At the end of the course there will be a remedial test for those students who have failed or not attended any of the two written tests. To be eligible for the retake process, the student should have been previously evaluated in a set of activities equaling at least two thirds of the final score of the course. The student will be graded as "No Avaluable" if the weighthin of all conducted evaluation activities is less than 67% of the final score.
Unique assessment
Students enrolled in the single assessment will have to take the two written tests and hand in the assignments from works performed in the classes on a single date, only for those that are not in group (under the same conditions as students with continuous assessment). The works performed in the classes that are in group and the work in small groups will be assessed on the same day that the students with continuous assessment will be assessed. The single assessment test will coincide with the same date fixed in the calendar for the last continuous assessment test and the same recovery system will be applied as for the continuous assessment. The same "No Avaluable" criterion used for continuous assessment will apply.
Use of artificial intelligence
In this subject, the use of Artificial Intelligence (AI) technologies is allowed as an integral part of the development of the work, provided that the final result reflects a significant contributionof the student in the analysis and personal reflection. The student must clearly identify which parts have been generated with this technology, specify the tools used and include a critical reflection on how these have influenced the process and the final result of the activity. The lack of transparency in the use of AI will be considered a lack of academic honesty and may lead to a penalty in the grade of the activity, or greater sanctions in serious cases.
Academic Misconduct
Any irregularity committed during an assessment activity (including academic fraud, plagiarism, or the improper use of AI, unless such use is expressly authorized in the course guide) that may result in a significant alteration of the grade will lead to that assessment being awarded a mark of 0. If the course guide establishes that obtaining a minimum mark in that assessment is an essential requirement for passing the course, or if multiple irregularities occur 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
- Cohn, Ronald Doron & Hamosh, Ada & Scherer, Stephen W. (2024). Thompson y Thompson. Genética y genómica en medicina. (9ª ed.) Elsevier. Available online: https://bibcercador.uab.cat/permalink/34CSUC_UAB/1eqfv2p/alma991010969408706709
- Jorde, Lynn B. & Bamshad, Michael J. & Carey, John C. (2026). Medical genetics and Genomics. (7th ed.) Elsevier. Available online previous edition: https://bibcercador.uab.cat/permalink/34CSUC_UAB/1eqfv2p/alma991000597799706709
- Lewis, Ricki. (2024). Human genetics : concepts and applications. (14th ed.) McGraw-Hill. Available at the library.
- Strachan, T. & Read, Andrew P. (2019). Human molecular genetics. (5th ed.) CRC Press Taylor & Francis Group. Available at the library.
- Strachan, T. & Read, Andrew P. (2023). Genetics and genomics in medicine. (2nd ed.) CRC Press. Available at the library. Available online: https://bibcercador.uab.cat/permalink/34CSUC_UAB/1eqfv2p/alma991010834431506709
- Turnpenny, Peter D. & Ellard, Sian & Cleaver, Ruth. (2022). Emery's elements of medical genetics and genomics. (16th ed.) Elsevier. Available at the library.
- http://www.ncbi.nlm.nih.gov/omim
- http://ghr.nlm.nih.gov
- http://www.genome.gov
Software
No specific software 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