
Human Genetics
Code: 100750Credits: 6
| Degree programme | Type | Course |
|---|---|---|
| Biology | OP | 4 |
Contact lecturer
- Name :
- Gemma Armengol Rosell
- Email :
- gemma.armengol@uab.cat
Teaching staff
- Joan Francesc Barquinero Estruch
Group languages
You can consult this information at the end of the document.
Prerequisites
To have 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
- Be able to analyse and synthesise.
- Be able to organise and plan.
- Students must have and understand knowledge of an area of study built on the basis of general secondary education, and while it relies on some advanced textbooks it also includes some aspects coming from the forefront of its field of study.
- Students must be capable of applying their knowledge to their work or vocation in a professional way and they should have building arguments and problem resolution skills within their area of study.
- Students must be capable of collecting and interpreting relevant data (usually within their area of study) in order to make statements that reflect social, scientific or ethical relevant issues.
- Students must be capable of communicating information, ideas, problems and solutions to both specialised and non-specialised audiences.
- Students must develop the necessary learning skills to undertake further training with a high degree of autonomy.
- Analyse a situation and identify its points for improvement.
- Propose new methods or well-founded alternative solutions.
- Critically analyse the principles, values and procedures that govern the exercise of the profession.
- Analyse the sex- or gender-based inequalities and the gender biases present in one's own area of knowledge.
- Propose projects and actions that incorporate the gender perspective.
- Recognise the anomalies of human chromosomes and assess their consequences.
- Interpret human variability as a source of individualisation.
- Identify the natural and artificial factors that affect human health.
- Describe heredity patterns and calculate the risk of recurrence of human diseases.
- Identify the underlying genetic causes of development and of congenital defects in humans.
- Interact with and advise government institutions operating in the field of social policy and population and public health policy.
- Analyse the sustainability indicators of the academic and professional activities within the area, integrating the social, economic and environmental dimensions.
- Propose ways to evaluate projects and actions for improving sustainability.
Contents
Chapter 1. Organization of the human genome
Chapter 2. Chromosomal alterations
Chapter 3. Mutations and polymorphisms
Chapter 4. Epigenetics
Chapter 5. Developmental genetics
Chapter 6. Mapping and identifying genes related to diseases
Chapter 7. Cancer Genetics
Chapter 8. Pharmacogenetics. Nutritional Genomics
Chapter 9. Prenatal Diagnosis. Tests for genetic diseases and genetic counseling.
Chapter 10. Treatment of genetic diseases
Chapter 11. Ethical issues in human genetics
Learning activities and methodology
| Title | Hours | ECTS | Learning outcomes |
|---|---|---|---|
| Report writing | 15 | 0.6 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 13, 14, 15, 16, 17, 20 |
| Sessions with all students | 25 | 1 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 17, 19, 20 |
| Tutorials | 5 | 0.2 | 1, 2, 3, 4, 5, 8, 9, 10, 11, 12, 20 |
| Personal study | 45 | 1.8 | 1, 2, 3, 4, 5, 7, 8, 13, 14, 15, 16, 17 |
| Document research | 5 | 0.2 | 1, 2, 3, 4, 5, 8, 10 |
| Problem preparation | 15 | 0.6 | 1, 2, 3, 4, 5, 6, 8, 13, 14, 15, 16, 17 |
| Text reading | 17 | 0.68 | 1, 3, 5, 7, 10 |
| Laboratory | 10 | 0.4 | 1, 2, 4, 5, 6, 7, 13, 14 |
| Seminars | 10 | 0.4 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 13, 14, 15, 17, 19, 20 |
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. These classes are designed as lecture sessions by the teaching staff but also the active participation of students is encouraged 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.
Laboratory sessions: It seeks to identify genetic mutations and polymorphisms and relate it to the influence they can have on the generation of diversity and pathological processes. Through these practices the student will acquire skills in the application of instrumental, analytical and molecular techniques. The attendance to the laboratory sessions is compulsory.
Assessment
Continuous assessment activities
| Title | Weight | Hours | ECTS | Learning outcomes |
|---|---|---|---|---|
| Reports from the activities performed in the classes | 20% | 0 | 0 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20 |
| Report related to the laboratory classes | 10% | 0 | 0 | 1, 4, 5, 6, 7, 13, 14 |
| Written test II | 25% | 1.5 | 0.06 | 1, 2, 13, 14, 15, 16, 17 |
| Written test I | 25% | 1.5 | 0.06 | 1, 2, 13, 14, 15, 16, 17 |
| Work in group | 20% | 0 | 0 | 1, 2, 13, 14, 16, 17 |
a) Two written tests: each test is 25% of the final mark. The minimum mark to pass the subject will be 5 in each test.
b) Reports from the activities performed in the classes: 20% of the final grade.
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.
d) Report related to laboratory classes: 10% of the final mark. Attendance is mandatory to laboratory classes.
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 students with continuous assessment. Laboratory classes are of mandatory attendance and will be assessed on the same day that students with continuous assessment: the last day of laboratory classes. 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 contribution of 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. Disponible en línia: 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. Disponible en línia l’edició anterior: https://bibcercador.uab.cat/permalink/34CSUC_UAB/1eqfv2p/alma991000597799706709
- Lewis, Ricki. (2024). Human genetics : concepts and applications. (14th ed.) McGraw-Hill. Disponible en paper a la biblioteca.
- Strachan, T. & Read, Andrew P. (2019). Human molecular genetics. (5th ed.) CRC Press Taylor & Francis Group. Disponible en paper a la biblioteca.
- Strachan, T. & Read, Andrew P. (2023). Genetics and genomics in medicine. (2nd ed.) CRC Press. Disponible en paper a la biblioteca. Disponible en línia: 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. Disponible en paper a la biblioteca.
- 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
| Type of teaching | Group | Language | Semester | Shift |
|---|---|---|---|---|
| (TE) Theory | 14 | Catalan | first semester | morning-mixed |
| (PAUL) Classroom practices | 141 | Catalan/Spanish | first semester | morning-mixed |
| (PLAB) Practical laboratories | 141 | Catalan/Spanish | first semester | afternoon |
| (PLABs) Suport a les pràctiques de laboratori | 141 | Catalan | first semester | afternoon |