Universitat Internacional de Catalunya
Genetics
Other languages of instruction: Catalan, English
Teaching staff
Students may ask the faculty questions at the end of each class. Outside of this time, an appointment must be requested via email:
Magistral Classes Dr. Mayka Sanchez (msanchezfe@uic.es)
Case methods and practices: Dr Eva Quandt (equandt@uic.es) Sra. Lucía Ayuso Molina (luciaayusomolina@uic.es)Introduction
Medicine is a field that changes constantly, therefore, more than ever, nowadays; the basic knowledge is necessary, which helps the professional to face any situation. In this sense, knowing the genetic origin of the main pathologies is essential to perform a correct analysis of the etiology, diagnosis and evaluation of therapeutic processes.
This subject intends to give the biomedical student an introductory vision on basic aspects of medical genetics. It is oriented in a practical way, it tries to prioritize in each subject those concepts and situations that best adapt to the understanding of phenomena associated with the professional practice in the field of Medicine.
The Genetics course contributes to the Sustainable Development Goals (SDGs) of the 2030 Agenda, particularly SDGs 3 (Good Health and Well-being), 9 (Industry, Innovation and Infrastructure), 10 (Reduced Inequalities), 12 (Responsible Consumption and Production), and 17 (Partnerships for the Goals), by improving health diagnosis and prevention, promoting biomedical innovation, reducing inequalities in access to genetic healthcare, encouraging responsible use of resources, and fostering international collaboration.
Pre-course requirements
The subject, which is attended the first year of the degree, does not require any specific administrative requirements. In spite of everything, in order to be able to develop the subject successfully, it would be necessary to have previous knowledge of molecular biology and cellular level of second-level baccalaureate.
Objectives
- Explain the fundamental principles of human genetics and their application in health, with a focus on the underlying molecular mechanisms, such as DNA replication, transcription, and translation, as well as inheritance patterns.
- Develop skills to apply genetic concepts through the analysis of clinical cases and practical problems related to human diseases and quantitative genetics.
- Integrate knowledge of human genetics with the principles of evolutionary and population genetics to understand genetic variability in populations and its implications for evolution and adaptation.
Competences/Learning outcomes of the degree programme
- CN01 - Define the structure and function of the cell, as well as intra and extracellular communication and its regulation through the main routes of cell signalling, in both developing and adult individuals.
- CN02 - Recognise the molecular foundations that explain transcriptional and post-transcriptional phenomena in eukaryotes in their adult state and during their development, as well as the basic genetic principles that define the basis of genetic inheritance.
- CN03 - Have a general overview of the diversity of micro-organisms and their impact on human life.
- CN15 - Identify analytical and experimental methodologies used in the field of Biomedical Sciences, whether they be established or cutting-edge.
- CP01 - Interpret basic biological concepts and the specific language of biomedical sciences in health, both in their native language and English, by applying autonomous learning.
- CP02 - Apply scientific methodology to interpret practical or theoretical data by evaluating situations and results from a critical and constructive point of view.
- CP05 - Apply biological foundations in the search for practical solutions to health problems, following ethical standards and scientific rigour and respecting fundamental equal rights between men and women, and the promotion of human rights and the values inherent in a peaceful society of democratic values that includes inclusive, non-discriminatory language without stereotypes.
- HB01 - Interpret basic data obtained in the biomedical research laboratory, identifying consistent and inconsistent elements, both individually and in a team.
Learning outcomes of the subject
At the end of the course, students should be able to:
- Recognize the main genetic laws governing the transmission of hereditary diseases and the biochemical and molecular aspects associated with the transmission of information.
- Identify the mechanisms of genetic information storage and processing, as well as the different levels of human genome organization.
- Apply the fundamentals of genetics and its methods to the study of genetic diseases.
Recognize the different types of genetic inheritance and the probabilities of transmission for each type.
- Recognize the different types of genetic inheritance and the probabilities of transmission for each type.
- Understand the different types of mutations and be familiar with HGVS nomenclature.
- Identify basic karyotypes and their nomenclature.
- Solve basic problems in population genetics and quantitative genetics.
Syllabus
A. Lectures and Case-Based Methods
Topic 1. Introduction to Human Genetics
Topic 2. DNA Replication
Topic 3. Transcription and Translation control on gene expression and diseases
Topic 4. Mitosis, Meiosis, Sexual Reproduction and recombination
Case Method (CM) 1: Mitosis, meiosis concepts and problems (problems)
Topic 5. Mendelian genetics and monogenic inheritance patterns
Case Method (CM) 2: Genetic debate
Topic 6. Extensions of Mendelian genetics
Case Method (CM) 4: Chromosomal alterations- Cytogenetics (Problem, CM)
Topic 7. Non-Mendelian inheritance and phenotypic expression variants
Case Method (CM) 3: Calculation of the risk of transmission in monogenic inherited diseases- (Problem, CM)
Topic 8. Human genome, Mutations and Diseases
Case Method (CM) 5: Clinical cases in human diseases part I- Use of databases (Problem, CM)
Case Method (CM) 6: Clinical cases in human diseases part II (Problem, CM)
Topic 9. Cancer genetics
Case Method (CM) 7: Cancer genetics- clinical cases
Topic 10 Epigenetics
Case Method (CM) 8: Epigenetics and Cancer genetics- clinical cases
Topic 11. Quantitative Genetics
Case Method (CM) 9: Quantitative Genetics – Problems
Topic 12. Population and evolutionary genetics
Case Method (CM) 10: Population and evolutionary genetics – Problems
Topic 13 Multifactorial inheritance (virtual)
Case Method (CM) 11: Genetics-breaking news (clinical case)
B. Genetics laboratory, over three days (8 hours): experimental demonstration in the laboratory of the concepts covered in the theoretical classes. Familiarization with the most common experimental resources used in a biomedical laboratory.
Laboratory practical sessions in small groups.
Teaching and learning activities
In person
Fully In-Person Classroom Modality
The teaching resources used in this course are as follows:
1. Lectures – 26 hours: theoretical content delivered by the instructor.
2. Case Methods (CM) – 22 hours: presentation of real or simulated situations and resolution of problems related to these scenarios. At the beginning of the session, the instructor may introduce new concepts or review key knowledge required for the development of the clinical case or case method.
There are two types of Case Methods:
- Workshop Case Methods (with peer assessment): students work in small groups to solve the proposed questions and problems. At the end of the session, each student submits their individual work through Moodle before the class finishes (60% of the grade). Subsequently, each assignment is anonymously allocated to 3–4 classmates for peer assessment (40% of the grade), following a rubric and model answers provided by the instructor. Students have approximately one week to complete the peer review. The final mark is calculated from the average of the peer assessments received. Any questions or concepts requiring clarification will be addressed by the instructor through the Moodle forum. Some workshop case methods are conducted in a debate format.
- Clinical Audit Case Methods: students work in groups as an external panel of experts responsible for reviewing a previously prepared diagnostic report or clinical case. Their task is to analyse the documentation, identify and correct potential genetic and clinical errors using scientific databases and evidence-based resources, and prepare a final corrective report. All activities must be completed during the classroom session. Each group submits a single report before the end of the class, which is assessed directly by the instructor (no peer assessment is used in this modality). After the session, the official solution and the key learning points will be uploaded to Moodle. Late submissions will not be accepted.
3. Practical laboratory sessions: experimental demonstrations of the concepts covered in the lectures. Students become familiar with the most commonly used experimental techniques and resources in a genetics laboratory.
4. Virtual Learning (VL): online learning materials that students can access at any time and from any computer, supporting the independent learning of concepts related to the course.
Evaluation systems and criteria
In person
Fully In-Person Modality in the Classroom
1. Students in their first examination session (first call):
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15% Partial/Midterm exam (multiple-choice exam, 4 options, 1 correct answer, incorrect answer deducts -0.33)
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40% Final exam (multiple-choice exam, 4 options, 1 correct answer, incorrect answer deducts -0.33). A grade of 5.0 or higher is required to be eligible for an average with the other grades.
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15% Active participation and classroom attitude
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20% Preparation and participation in clinical cases/Case methods (17%), Moodle questions (3%)
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10% Practical/Lab exam (5%) + lab attitude (5%)
*EXTRA BONUS NOTE FOR EXCELLENCE (extra point not always applicable, maximum 1 point): Students who demonstrate a level of excellence in their academic activities may receive a maximum of 1 extra point (out of 100%) following a faculty board discussion. Extra points can be earned by attending patient forums and conferences of interest in genetics.
2. Students in their second examination session (second call): Same evaluation criteria as in the first call.
3. Students with two or more exhausted examination sessions: Same evaluation criteria as in the first call. They must take the final exam of each call. They may retake a new partial exam to obtain a new grade; if they retake the partial exam, they will receive a new grade, and under no circumstances will the previous grade be kept. Students may, if they wish, repeat the practical sessions, clinical cases, and PBL (Project-Based Learning) to obtain a new grade (under no circumstances will the previous grade be kept).
General Points to Keep in Mind Regarding the Evaluation System
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20% of the exam questions may cover concepts not explained in the classroom but present in the recommended bibliography.
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IMPORTANT: A minimum score of 5 must be obtained in the final exam to be eligible for an average with the rest of the grades. Attendance at practical/lab sessions is mandatory. Failure to attend results in the automatic failure of the course. Lateness will deduct points from the practical session grade.
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Expulsion from the laboratory implies failing the course. It is mandatory to wear a lab coat; without it, practical sessions cannot be performed, which leads to failing.
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Active participation in class means contributing interesting ideas or relevant questions that improve the quality of the session (lectures, clinical cases, or practical sessions).
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Exams will be multiple-choice with four answer options: +1 point for correct answers, -0.33 points for incorrect answers.
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Attendance at theoretical lectures is not mandatory, but those attending must follow the professor's rules.
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Non-attendance or failure to submit clinical cases or case methods on time will be graded as a zero for that activity. A minimum number of attended case methods is required to calculate the overall grade for the case methods.
1. Students must follow the faculty’s instructions and rules.
2. No consulting any material on the computer; only Moodle can be open. No use of mobile phones or smartwatches is allowed. Personal belongings must be placed aside. Standing up or leaving the exam room is prohibited.
3. Multiple professors will monitor the exam. Any suspicious behavior will result in removal from the exam, a grade of zero, and rescheduling for the next exam session.
4. The purpose of the exam is to assess your knowledge of the subject.
EXAM REVIEW RULES
1. Students must follow the faculty’s instructions, which are similar to the exam rules.
2. Students may review their exam only on the scheduled date and time. Only one review session per exam is allowed.
3. The main goal of the exam review is to check your scores, understand your mistakes, and clarify misunderstandings. This is not a lecture or a teaching session. Memorizing or noting down questions is useless, as future exams will contain different questions.
Justified Absences (Official proof required)-
Medical emergencies (showing time and location).
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Serious illness (hospitalization or surgery).
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Death of an immediate family member (1st or 2nd degree).
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Court summons.
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Federated professional sports competition.
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Routine medical visits or pre-booked appointments.
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Driving tests.
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Common family matters.
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Justified: Allows a change of lab/practical group, but Case Methods (MC) are not re-evaluated (grade: 0).
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Unjustified: The student must reschedule their appointment or find a classmate to swap shifts with. Failure to attend results in a penalty or failing the course.
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Fraud: Any fake note implies an automatic fail for the course and a potential disciplinary file. (Coordinators will cross-check notes to prevent reuse).
Bibliography and resources
SUDBERY. Genética molecular humana. Ed. Pearson.
KLUG. Conceptos de genética. Ed. Pearson.
PIERCE. Genética. Un enfoque conceptual. Ed. Médica Panamericana.
PIERCE. Fundamentos de Genética, conceptos y relaciones. Ed. Médica Panamericana.