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Human Genetics

Code: 101971 ECTS Credits: 6
Degree Type Year Semester
2500890 Genetics OB 3 1
The proposed teaching and assessment methodology that appear in the guide may be subject to changes as a result of the restrictions to face-to-face class attendance imposed by the health authorities.


Gemma Armengol Rosell

Use of Languages

Principal working language:
catalan (cat)
Some groups entirely in English:
Some groups entirely in Catalan:
Some groups entirely in Spanish:


To have some basic knowledge on genetics.

Objectives and Contextualisation

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.


  • Appreciate the importance of quality and a job well done.
  • Be able to analyse and synthesise.
  • Be able to communicate effectively, orally and in writing.
  • Define mutation and its types, and determine the levels of genic, chromosomal and genomic damage in the hereditary material of any species, both spontaneous and induced, and evaluate the consequences.
  • Describe and interpret the principles of the transmission of genetic information across generations.
  • Describe the genetic bases of the development and control of genic expression.
  • Design and interpret studies associating genetic polymorphisms and phenotypical characters to identify genetic variants that affect the phenotype, including those associated to pathologies and those that confer susceptibility to human illnesses or those of other species of interest.
  • Measure and interpret the genetic variation in and between populations from a clinical, conservational and evolutionary perspective, and from that of the genetic improvement of animals and plants.
  • Perform genetic diagnoses and assessments and consider the ethical and legal dilemmas.
  • Produce, direct, execute and assess projects where knowledge of genetics or genomics is necessary.
  • Take the initiative and demonstrate an entrepreneurial spirit.
  • Use and interpret data sources on the genomes and macromolecules of any species and understand the basics of bioinformatics analysis to establish the corresponding relations between structure, function and evolution.

Learning Outcomes

  1. Appreciate the importance of quality and a job well done.
  2. Be able to analyse and synthesise.
  3. Be able to communicate effectively, orally and in writing.
  4. Describe the genetic basis of human development.
  5. Describe the role of genetic variation in the human species in the diagnoses, prevention and treatment of illnesses.
  6. Determine the genetic basis and calculate the risk of recurrence of human illnesses.
  7. Enumerate and describe the different techniques for analysing DNA polymorphisms that can be applied to studies of genetic variation associated to human pathologies.
  8. Interpret scientific publications, and solve problems and example cases in the fields of human and cancer genetics.
  9. Interpret the results obtained using techniques for the analysis of DNA polymorphisms to identify and evaluate factors of susceptibility and propensity to suffer illnesses.
  10. Propose genetics or genomics projects that are applicable to the field of human health.
  11. Recognise genic, chromosomal and genomic anomalies in humans and evaluate the clinical consequences.
  12. Take the initiative and demonstrate an entrepreneurial spirit.
  13. Use data sources on the human genome and interpret them.


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

*Unless the requirements enforced by the health authorities demand a prioritization or reduction of these contents


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. 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 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.

*The proposed teaching methodology may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities

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 Hours ECTS Learning Outcomes
Type: Directed      
Seminars 15 0.6 12, 3, 2, 1
Sessions with all students 30 1.2 12, 3
Type: Supervised      
Tutorials 5 0.2 12, 2, 1
Type: Autonomous      
Document research 5 0.2 12, 2, 1
Personal study 45 1.8 2, 1
Problem preparation 15 0.6 2
Report writing 15 0.6 12, 3, 2, 1
Text reading 17 0.68 2, 1


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.

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.

*Student’s assessment may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities.

Assessment Activities

Title Weighting Hours ECTS Learning Outcomes
Handling works performed in the classes 20% 0 0 4, 6, 7, 9, 8, 12, 10, 11, 3, 2, 13, 1
Working in groups 20% 0 0 5, 4, 6, 7, 9, 8, 12, 10, 11, 3, 2, 13, 1
Written test I 30% 1.5 0.06 5, 4, 6, 7, 9, 11, 2, 13, 1
Written test II 30% 1.5 0.06 5, 4, 6, 7, 9, 11, 2, 13, 1


  • Cummings MR. (2016). Human Heredity. Principles and Issues. 11ena edició. Thompson. Brooks/Cole. Belmont, EEUU.
  • Jorde LB, Carey JC, Bamshad MJ (2020). Medical genetics. 6a edició. Elsevier. Philadelphia, EEUU. Enllaç: https://www.clinicalkey.com/student/content/toc/3-s2.0-C20190053186
  • Lewis R. (2021). Human Genetics. Concepts and Applications. 13a edició. McGraw-Hill Science. New York, EEUU.
  • Nussbaum RL, McInnes RR i Willard HF. (2016). Thompson & Thompson Genetics in Medicine. 8a edició. Saunders Elsevier, Philadelphia, USA. Enllaç: https://www.clinicalkey.com/meded/content/toc/3-s2.0-C20150020123
  • Oriola J, Ballesta F, Clària J, Mengual L. (2013). Genètica Mèdica. Rafael Oliva (ed.) Edicions Universitat de Barcelona. Barcelona.
  • Solari AJ. (2011). Genética Humana. Fundamentos y Aplicaciones en Medicina. 5a edició. Médica Panamericana. Buenos Aires, Argentina. Enllaç: http://www.medicapanamericana.com/VisorEbookV2/Ebook/9789500605687
  • Strachan T i Read AP. (2019). Human Molecular Genetics. 5a edició. Garland Science, Taylor & Francis Group, New York, USA.
  • Strachan T, Goodship J i Chinnery P. (2015). Genetics and Genomics in Medicine. 1ª edició. Garland Science, Taylor & Francis Group, New York, USA.
  • Tobias ES, Connor M i Ferguson-Smith M. (2011). Essential Medical Genetics. 6a edició. Wiley-Blackwell, Oxford, Regne Unit. Enllaç: https://ebookcentral.proquest.com/lib/UAB/detail.action?docID=822526
  • Turnpenny P, Ellard S. and Clever R (2021). Emery Elements of Medical Genetics. 16a edició. Elsevier, Philadelphia, USA. Enllaç a 15a edició: https://www.clinicalkey.com/meded/content/toc/3-s2.0-C20160052130
  • Vogel and Motulsky’s Human Genetics, Problems and Approaches. (2010) 4a edició. Springer-Verlag Berlin Heidelberg, Alemanya. Enllaç: https://dx.doi.org/10.1007/978-3-540-37654-5
  • http://www.ncbi.nlm.nih.gov/omim
  • http://ghr.nlm.nih.gov
  • http://www.genome.gov


No specific software will be used