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 following teaching resources will be used:
1. Lectures - 26 hours: Presentation of a theoretical topic by the teaching staff.
2. Case Method (CM) - 22 hours (cross self-assessment in workshop format or case method in debate format): Presentation of a real or hypothetical situation and related applied problems. The teaching staff actively participates at the beginning of the class if it is necessary to introduce new knowledge or review key aspects essential for this case method or clinical case.
Students work on the given questions and problems in small groups, and each student submits their work individually through Moodle before the class ends (60% of the grade). After the class, each student is assigned 3-4 reviewers, and they conduct a peer review of their classmates' work (40% of the total grade). For this second evaluation phase, students have approximately one to one and a half weeks and are provided with grading guidelines and correct model answers. The teaching staff calculates an average of the different scores each student receives from their reviewers and an overall average for the entire group that completed the same assignment. If there are doubts or unclear concepts, the teaching staff addresses them in the Moodle forum. Some case methods are conducted in debate format.
Presentation of a real or hypothetical situation. Students work on the given questions in small groups, and answers are discussed in class. The teaching staff actively participates and introduces new knowledge when necessary.
3. Practical Classes: Experimental demonstrations in the laboratory on concepts studied in theoretical classes. Familiarization with the most common experimental resources used in a genetics laboratory.
4. Virtual Learning (VL): Online materials that students can access from any computer at any time, contributing to self-learning of concepts related to the course.
Evaluation systems and criteria
In person
Fully In-Person Classroom Modality
1. First-time Students:
10% Midterm exam (Multiple-choice exam with 4 questions, 1 correct answer each. Incorrect answers deduct 0.33) points.
50% Final exam (Multiple-choice exam with 4 questions, 1 correct answer each. Incorrect answers deduct 0.33)
10% Participation and attitude in class
20% Preparation and participation in clinical cases (17%), Moodle questions (3%)
10% Practical Lab exam (5%) + actitude in lab (5%)
*EXCELLENCE BONUS (extra points, not always applicable, max 1 point): Students who demonstrate excellence in their academic activities may receive up to 1 extra point (out of 100%) after discussion by the faculty. Extra points can be earned by attending patient forums and genetics-related conferences.
2. Second-attempt Students: Same evaluation criteria as in the first attempt.
3. Students with two or more failed attempts: They must take the final exam in each attempt, which will count for 60% of the final grade and will be averaged with their practical exam grade, class participation, and clinical case preparation from the first attempt. Students may choose to retake practical sessions, clinical cases, and PBLs to obtain a new grade.
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General Guidelines for the Evaluation System1. 20% of the exam questions may cover concepts that were not explicitly explained in class but are present in the recommended bibliography.
2. IMPORTANT: A minimum grade of 5 is required on the final exam to be averaged with other components.
3. Attendance to practical sessions is mandatory. Missing a session results in an automatic failure. Lateness to practicals will result in point deductions from the practical exam grade.
4. Expulsion from the laboratory means automatic failure. Wearing a lab coat is mandatory; without it, students cannot participate in lab sessions, leading to failure in the course.
5. Class participation includes contributing interesting ideas or raising relevant questions that enhance the quality of the session (lecture, clinical case, or practical).
6. Exams will be multiple-choice with four answer options:+1 point for correct answers, -0.33 points for incorrect answers
7. Attendance to lectures is not mandatory, but attendees must follow the rules set by the faculty.
8. Failure to attend or submit clinical cases or case method assignments on time will result in a zero for that task.
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.
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.
Evaluation period
- E1 22/05/2026 I3 14:00h
- E2 03/07/2026 I3 11:00h