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Human Genetics

Code: 106687
Credits: 5
2026/2027
Degree programme Type Course
Medicine OB 2

Contact lecturer

Name :
Jordi Camps Polo
Email :
jordi.camps@uab.cat

Teaching staff

Ariadna Delgado Bermudez
Jordi Ribas Maynou
Javier Rey Azpiri
Alejandro Gella Concustell
Montserrat Codina Pascual
Marina Rodriguez Muñoz
Octavio Alfredo Romero Ferraro
Mariona Terradas Ill
Maria Angels Rigola Tor
Oriol De Barrios Barri
Pere Puig Rosell

Group languages

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

Prerequisites

A good knowledge of Catalan and Spanish is indispensable, vehicular languages in which the classes will take place.

It is advisable that the students have a good knowledge of English, since many of the information sources of this subject are in this language.

It is convenient that the student has achieved basic skills in Cell Biology, Biochemistry and Molecular Biology.

It is convenient that the student knows the basic principles of genetics.

Objectives

The subject is scheduled in the second year of the Medicine degree. Its general objective is to give students all the necessary information that will allow them to acquire knowledge about the organization, function and regulation of genes in normal conditions and will enable them to understand the mechanisms involved in genetic-based diseases.

 

The student will acquire advanced knowledge about human genome; epigenetics and regulation of gene expression; mutation and repair of DNA; pharmacogenomics; forensic genetics; genetics of development; inheritance patterns; cytogenetics; rare diseases; cancer genetics and population genetics.

Learning outcomes

  1. Identify the distribution of genetic diseases in a given population taking their origin into account.
  2. Describe the organisation, evolution, inter-individual variation and expression of the human genome.
  3. Identify the epigenetic factors involved in the control of gene expression.
  4. Describe the molecular bases of DNA mutation and repair.
  5. Explain the transmission mechanisms of genetic material.
  6. Identify the genetic bases of human development.
  7. Compare the techniques and methods that help in genetic diagnosis.
  8. Identify the genetic bases for the main diseases with a genetic basis or component.
  9. Describe the anomalies of human chromosomes and evaluate their consequences.
  10. Explain the importance of research in the field of genetics.
  11. Interpret the results of a scientific project.
  12. Apply the basic techniques used habitually in the genetics laboratory.
  13. Interpret scientific publications, and solve problems and case studies in the area of genetics.
  14. Identify the concepts and language of genetics and consult the scientific literature in the area of human genetics.
  15. Understand scientific texts and write review papers on human genetics and genetic diseases.
  16. Demonstrate, in professional activity, a perspective that is critical, creative and research-oriented.
  17. Formulate hypotheses and compile and critically assess information for problem-solving, using the scientific method.
  18. Demonstrate basic research skills.
  19. Communicate clearly, orally and in writing, with other professionals and the media.
  20. Relate the genetic dysfunction with pathological phenotype.

Contents

Contents of THEORY (by topics):


I. Human genome

1. Human genome I

2. Human genome II


II. Cytogenetics

3. The normal human chromosome

4. Numerical chromosomal abnormalities

5. Unbalanced structural chromosomal alterations

6. Balanced structural chromosomal alterations


III. Inheritance patterns

7. Autosomal inheritance

8. Sex-linked inheritance

9. Multifactorial and polygenic inheritance

10. Mitochondrial inheritance

11. Genetic bases of diabetes mellitus


IV. Gene expression

12. Control of gene expression

13. Epigenetics


V. Mutation and DNA repair

14. Molecular bases of the mutation

15. Nucleotide expansion mutations

16. Mechanisms of DNA repair

17. Pharmacogenomics


VI. Normal developmental and dysfunctional genetics

18. Microduplication / deletion syndromes. Rare diseases

19. Genomic imprinting

20. Prenatal and pre-implantation diagnosis

21. Genetics of metabolic and endocrine disorders

22. Genetic bases of mental disorders

23. Genes of control of embryonic development


VII. Cancer genetics and genomics

24. Cancer genetics I

25. Cancer genetics II




Detailed distributive blocks by topic:


I-1. Human genome I: general characteristics, protein coding genes, non-coding RNA genes, splicing, genome transcription.

I-2. Human genome II: repetitive elements, regulatory elements, genome variability.


II-3. The normal human chromosome: chromosome structure, centromeres, telomeres, chromosomel identification, karyotype, mechansims of chromosomal segregation

II-4. Numerical chromosomal anomalies: polyploidies; aneuploidies: origin and consequences; mosaics,trisomies and viable monosomies in the human species, molecular bases of the Down and Turner syndromes.

II-5. Unbalanced structural chromosomal alterations: origin, deletions, duplications, ring chromosomes, isochromosomes, phenotypic effects, nomenclature.

II-6. Balanced structural chromosomal alterations: pericentric and paracentric inversions: origin, risk of anomalies in offspring; reciprocal translocations: origin, balanced carriers and risk of anomalies in offspring; Robertsonian translocations: origin, balanced carriers and risk of anomalies in offspring; phenotype of balanced structural anomalies.


III-7. Autosomal inheritance: detection of genetic diseases in medical practice, characteristics and pattern of transmission of autosomal dominant inheritance, characteristics and transmission pattern of autosomal recessive inheritance, detection of heterozygotes in the population.

III-8. Heredity linked to sex: inheritance linked to the recessive and dominant X chromosome, inheritance linked to the Y chromosome.

III-9. Multifactorial inheritance: heritability, search for candidate genes, genetic and environmental basis, normal characters of continuous variability, multifactor alterations with threshold, common diseases that affect the adult population.

III-10. Mitochondrial inheritance: mitochondrial DNA, characteristics of mitochondrial inheritance, pattern of transmission of mitochondrial alterations, mitochondrial diseases.

III-11. Genetic bases of diabetes mellitus: Types, patterns of inheritance, genetic counseling and strategies for molecular-based treatments.


IV-12. Gene expression: mechanisms of control and regulation of gene expression, microRNA and lncRNA, RNA editing, genotype-phenotype relationships, multiple allelomorphism, phenotype of heterozygotes, reduced penetrance, variable expressivity, pleiotropy, heterogeneous.

IV-13. Epigenetics: epigenetic factors, modification of DNA, modificationof histones, inactivation of chromosome X.


V-14. Molecular bases of the mutation: concept and types of mutations, sequence mutations, structural mutations, chromosomal mutations, nomenclature of mutations, mutagenic agents.

V-15. Mutations by nucleotide expansion: molecular mechanisms, trinucleotide expansion, examples of associated diseases.

V-16. Mechanisms of DNA repair: cellular response to genetic damage, main mechanisms of DNA repair, diseases associated with errors in DNA repair.

V-17. Pharmacogenomics: response to drugs, polymorphisms of metabolizing molecules, transporters and drug receptors, pharmacological targets.


VI-18. Genetic bases of microduplication / deletion syndromes and rare diseases: definition and characteristics, examples, genetic counseling, genetic analysis.

VI-19. Genomic imprint: concept, genes and imprinted chromosomal regions, alterations influenced by imprinting.

VI-20. Prenatal and pre-implantation diagnosis: prenatal and pre-implantation diagnostic techniques, clinical guidelines, example cases.

VI-21. Genetics of metabolic and endocrine disorders: molecular alterations in the development and function of the metabolic and endocrine system. Types of diabetes.

VI-22. Genetic basis of mental disorders: genetic origin, Parkinson's disease, tools for early detection, genetic basis of behavioral disorders, Alzheimer's disease

VI-23. Genes of control of embryonic development: general characteristics, transcription factors and signal molecules, HOX genes.


VII-24. Cancer genetics I: oncogenes and tumor suppressor genes, types of cancer, accumulation of somatic mutations in the tumor cell, genomic alterations and cancer.

VII-25. Cancer genetics II: carcinogenesis models, solid tumors, hematological neoplasms.



Contents of CLASSROM PRACTICES SEMINARS:


Seminar 1: Fundamentals of DNA technologies

Seminar 2: Gene therapy

Seminar 3: Genetic identification and forensic genetics

Seminar 4: Population genetics

Seminar 5: Application of genetics in the clinical laboratory

Seminar 6: Genetic counseling

Seminar 7: Hereditary cancer syndromes




Contents of CLASROOM PRACTICES GENETIC PROBLEMS:


Autosomal dominant inheritance pattern

Autosomal recessive inheritance pattern

X-linked inheritance pattern

Polygenic inheritance pattern

Genetic imprinting inheritance pattern




Contents of LABORATORY PRACTICES:


PLAB1: Analysis of the normal human karyotype

PLAB2: Identification of chromosomal alterations by molecular cytogenetics

PLAB3: Interpretation of sequence and structural variants of the genome





Learning activities and methodology

Title Hours ECTS Learning outcomes
READING ARTICLES / REPORTS OF INTEREST 44 1.76 1, 7, 11, 12, 15, 18, 19
WORK PREPARATION 12 0.48 6, 11, 12, 19
TUTORIALS 14 0.56 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 13, 14, 16, 19
LABORATORY PRACTICES (PLAB) 11 0.44 1, 4, 5, 6, 9, 13, 16, 20
THEORY (TE) 25 1 1, 3, 4, 5, 6, 7, 8, 9, 10, 14, 15, 16, 17, 20
CLASSROOM PRACTICES (PAUL) 11 0.44 1, 2, 3, 4, 5, 6, 7, 9, 10, 11, 12, 13, 15, 16, 19

Theoretical classes: 25 sessions. Systematized exposition of the syllabus of the subject, giving relevance to the most important concepts. The students acquire the basic scientific knowledge of the subject in theory classes, which will complement the personal study of the topics discussed and with problem-based learning methodology. Students can find a summary of the material used in class in the Virtual Campus and / or Moodle before or after the lecture.

Classroom practices: 11 sessions distributed in 7 Seminar sessions that consist of the presentation of relevant topics of the subject and clinical cases (ABP sessions) in small groups, allowing students to review those most important or most basic topics necessary for understanding the subject, and 4 Genetic Problems sessions, in which cases and genetics problems presented by the teaching staff are presented and resolved.

Laboratory practices: 3 sessions. Exposure and application of the different techniques used in basic and molecular cytogenetics, interpretation of structural and polymorphic variants, and their clinical applicability.

IMPORTANT NOTE: Prior to the completion of laboratory practices, students must have completed the test that certifies the knowledge of the contents of the risk prevention manual and upload it to the Virtual Campus and / or Moodle. They are essential requirements to perform practices 1 and 2 take a lab coat and show the teacher a signed copy of the risk prevention test.


For this course, the use of Artificial Intelligence (AI) technologies is permitted exclusively for support tasks, such as bibliographic or information searches, text proofreading, translations, and the resolution of problems and clinical cases. Students must clearly identify which parts have been generated using this technology, specify the tools used, and include a critical reflection on how these tools have influenced both the process and the final outcome of the assignment. Failure to disclose the use of AI in this assessed activity will be considered a breach of academic integrity and may result in a partial or total reduction of the assignment grade, or more severe disciplinary sanctions in cases of greater seriousness.

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
Classroom practices (Genetic Problems): written evaluations through objective tests: Problem solving 10% 1 0.04 4, 10, 14, 15, 16
Laboratory Practices: written assessments through objective tests: Practical cases solving 20% 1 0.04 1, 2, 3, 4, 5, 6, 9, 10, 11, 12, 13, 16, 18, 19, 20
Lecture and Classroom practices (Seminars): Written assessments through objective tests: multiple choice items 70% 6 0.24 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 13, 14, 15, 16, 17, 20

Evaluation

A. The competences acquired in theory classes, classroom practices (Seminars and Genetic Problems) of this subject will be evaluated as follows:

1. Continuous evaluation: it will be divided into two partial exams:

First partial:

• Multiple-response objective test (single- or multiple-choice, with marking criteria to be specified in the corresponding exam announcement) of the knowledge acquired in theory classes (topics 1-13) and PAUL Seminars 1-3. This test must be passed with a grade of 4,8 or higher to be used for the average. This test corresponds to 35% of the final grade of the subject.

Second partial:

• Multiple-response objective test (single- or multiple-choice, with marking criteria to be specified in the corresponding exam announcement) of the knowledge acquired in theory classes (topics 14-25) and PAUL Seminars 4-7. This test must be passed with a grade of 4,8 or higher to be used for the average. This test corresponds to 35% of the final grade of the subject.

• Objective written test or multiple-response objective test (single- or multiple-choice, with marking criteria to be specified in the corresponding exam announcement) of questions related to classroom practices (Genetic Problems). This test corresponds to 10% of the final grade of the subject.

2. Recovery exam: Students who have been previously evaluated for at least 2/3 of the total qualification and therefore having presented the 2 partials corresponding to the continuous assessment, may be attending to the final exam under the following situations:

• Students who have obtained a grade below 4,8 of the theory part and PAUL Seminars in any of the two partials.

• Students who have obtained a grade equal to or greater than 4,8 of the theory part and PAUL Seminars in one or both partial tests but the average for this part of the evaluation does not reach 5.

• Students who want to upload a grade of one or both of the partials, or of the PAUL Genetic Problems. The grade obtained in the final exam will be maintained.

This exam contains:

• Multiple-response objective test (single- or multiple-choice, with marking criteria to be specified in the corresponding exam announcement) corresponding to each partial. The student will choose to perform one or both tests depending on their situation. This test must be passed with a grade of 4,8 or higher to be used for the average. Each test will correspond to 35% of the final grade of the subject.

• Objective written test or multiple-response objective test (single- or multiple-choice, with marking criteria to be specified in the corresponding exam announcement) of questions related to PAUL Genetic Problems. This test corresponds to 10% of the final grade of the subject.

B. The competences acquired in the laboratory practices will be evaluated by continuous evaluation through a written test at the end of each practice. The average of the three tests corresponding to the three laboratory practices will be used to obtain the final grade. It is not necessary that the average of the three tests equal or exceed 5 to pass the course. Failure to show up to practice and, therefore, not perform the corresponding written test, represents a 0 in that laboratory practice.

The repeating students will only have to return to those lab sessions in which they have not reached a grade equal to or higher than 6 in the test of the corresponding practice, provided that this mark has been obtained in the last two years.

C. The final grade will be obtained as follows:

Theory and PAUL Seminar tests: 70% of the final grade

Tests of PAUL Genetic Problems: 10% of the final grade

Tests of laboratory practices: 20% of the final grade

-Partial and final exams must reach marks of 4,8 or higher to be used for the average, as long as this average reaches 5.

-To pass the subject it will be necessary to obtain a global grade equal to or greater than 5 out of 10.

-The \"Non-evaluable\" will reflect the non-attendance to the final exam of recovery for students who have not passed the subject previously in the partial exams or who have to evaluate the whole subject through the final exam of recovery.

D. In the case that the student does not exceed the assessment requirements of the subject and its average grade of is greater than 5, the final grade cannot be higher than 4.8.

Review of the exams

After each one of the exams of the subject, the review of the exam will be convened during which the students will be able to consult their exam and, if necessary, make a written and reasoned claim.

Single evaluation

Students undertaking this course may choose the single assessment system, according to the Faculty's regulations. The single assessment will be based on the same content course, the acquisition of the same skills, and will achieve the same level of demand as the continuous assessment.

The single assessment test will take place 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 single assessment will consist of one testr with the two parts corresponding to the two blocks of partials (including the classroom practice exam) and the tests corresponding to the three laboratory practices. The weight of each assessment activity will be the same as in the case of continuous assessment. To pass the subject through the single assessment system, each student must meet all the requirements indicated in the continuous assessment system.

Bibliography

Bibliography

Specific bibliography:

Peter D. Turnpenny, Sian Ellard. Emery's elements of medical genetics, 15th edition, Elsevier 2018, ISBN:9788491132066

Lynn B. Jorde, John C. Medical genetics. 5th ed., Elsevier, 2016, ISBN:9788491130581

Tom Strachan, Judith Goodship and Patrick Chinnery. Genetics and genomics in medicine. London : Garland Science, cop. 2015, ISBN:9780815344803

Tom Strachan and Andrew Read. Human molecular genetics. CRC Press, Taylor & Francis Group, 2019. ISBN:9780815345893

Ricki Lewis. Human genetics : concepts and applications. New York, NY : McGraw-Hill Education, 2018. ISBN:9781259700934

Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard. Thompson & Thompson Genetics in Medicine. Elsevier 2016. ISBN:9781437706963

Bruce R. Korf, Mira B. Irons. Human genetics and genomics. 4th edition. Wiley-Blackwell, 2013. ISBN:9780470654477

T. A. Brown. Genomes 4. Garland Science, 2017, Fourth edition. ISBN:978081534508

Reference bibliography:

Lewis. Human Genetics. Concepts and applications. 9ª ed. McGraw-Hill International edition, 2010

Read A and Donnai D. New Clinical Genetics. 2nd edition. Scion Publishing Ltd, 2011

Internet resources:

http://www.nature.com/nature/supplements/collections/humangenome/index.html.

http://genome.wellcome.ac.uk/

http://www.ncbi.nlm.nih.gov/mapview/map_search.cgi?chr=hum_chr.inf&query

http://www.ncbi.nlm.nih.gov/genome/guide/human

http://www.ncbi.nlm.nih.gov/omim

http://www.geneclinics.org

Software

Miscrosoft programs, essentially PowerPoint, will be used to carry out the main lectures. Lecture presentation and PLAB booklet can be visualized with Adobe Reader.


CodonCode Aligner (Demo version): This software will be used on a PAUL.

The PLAB3 will use software previously installed on the computers in the computer room of the Faculty of Medicine (Campus Bellaterra).


If video conferencing is required, either for any session, or group or individual tutorial sessions, 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

Type of teaching Group Language Semester Shift
(PLABs) Suport a les pràctiques de laboratori 0 Catalan first semester afternoon
(PAUL) Classroom practices 1 Catalan first semester morning-mixed
(PLAB) Practical laboratories 1 Catalan first semester afternoon
(PLABs) Suport a les pràctiques de laboratori 1 Catalan first semester afternoon
(PAUL) Classroom practices 2 Catalan first semester morning-mixed
(PLAB) Practical laboratories 2 Catalan first semester afternoon
(PLABs) Suport a les pràctiques de laboratori 2 Catalan first semester afternoon
(PAUL) Classroom practices 3 Catalan first semester morning-mixed
(PLAB) Practical laboratories 3 Catalan first semester afternoon
(PLABs) Suport a les pràctiques de laboratori 3 Catalan first semester afternoon
(PAUL) Classroom practices 4 Catalan first semester morning-mixed
(PLAB) Practical laboratories 4 Catalan first semester afternoon
(PLABs) Suport a les pràctiques de laboratori 4 Catalan first semester afternoon
(PAUL) Classroom practices 5 Catalan first semester morning-mixed
(PLAB) Practical laboratories 5 Catalan first semester afternoon
(PLABs) Suport a les pràctiques de laboratori 5 Catalan first semester afternoon
(PAUL) Classroom practices 6 Catalan first semester morning-mixed
(PLAB) Practical laboratories 6 Catalan/Spanish first semester afternoon
(PLABs) Suport a les pràctiques de laboratori 6 Catalan/Spanish first semester afternoon
(PAUL) Classroom practices 7 Catalan first semester morning-mixed
(PLAB) Practical laboratories 7 Catalan/Spanish first semester afternoon
(PLABs) Suport a les pràctiques de laboratori 7 Catalan/Spanish first semester afternoon
(PAUL) Classroom practices 8 Catalan first semester morning-mixed
(PLAB) Practical laboratories 8 Catalan first semester afternoon
(PLABs) Suport a les pràctiques de laboratori 8 Catalan first semester afternoon
(PAUL) Classroom practices 9 Catalan first semester morning-mixed
(PLAB) Practical laboratories 9 Catalan first semester afternoon
(PLABs) Suport a les pràctiques de laboratori 9 Catalan first semester afternoon
(PAUL) Classroom practices 10 Catalan first semester morning-mixed
(PLAB) Practical laboratories 10 Catalan first semester afternoon
(PLAB) Practical laboratories 11 Catalan first semester morning-mixed
(PLABs) Suport a les pràctiques de laboratori 11 Catalan first semester morning-mixed
(PLAB) Practical laboratories 12 Catalan first semester morning-mixed
(PLABs) Suport a les pràctiques de laboratori 12 Catalan first semester morning-mixed
(PLAB) Practical laboratories 13 Catalan first semester morning-mixed
(PLABs) Suport a les pràctiques de laboratori 13 Catalan first semester morning-mixed
(PLAB) Practical laboratories 14 Catalan first semester morning-mixed
(PLABs) Suport a les pràctiques de laboratori 14 Catalan first semester morning-mixed
(PLAB) Practical laboratories 15 Catalan first semester morning-mixed
(PLABs) Suport a les pràctiques de laboratori 15 Catalan first semester morning-mixed
(PLAB) Practical laboratories 16 Catalan first semester morning-mixed
(PLABs) Suport a les pràctiques de laboratori 16 Catalan first semester morning-mixed
(PLAB) Practical laboratories 17 Catalan first semester morning-mixed
(PLABs) Suport a les pràctiques de laboratori 17 Catalan first semester morning-mixed
(PLAB) Practical laboratories 18 Catalan first semester morning-mixed
(PLABs) Suport a les pràctiques de laboratori 18 Catalan first semester morning-mixed
(PLAB) Practical laboratories 19 Catalan first semester morning-mixed
(PLABs) Suport a les pràctiques de laboratori 19 Catalan first semester morning-mixed
(PLAB) Practical laboratories 20 Catalan first semester morning-mixed
(PLABs) Suport a les pràctiques de laboratori 20 Catalan first semester morning-mixed
(TE) Theory 101 Catalan first semester morning-mixed
(TE) Theory 102 Catalan first semester morning-mixed
(TE) Theory 103 Catalan first semester morning-mixed