Universitat Internacional de Catalunya
Genetics
Other languages of instruction: Catalan, English
Teaching staff
The student will be able to consult questions to the professors at the end of each class. Outside these hours, you must request an appointment by email:
Magistral Classes Dr. Mayka Sanchez (msanchezfe@uic.es)
Case methods and practices: Dr Eva Quandt (equandt@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.
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
The objective of this subject is the introductory treatment of basic genetic aspects and genetic aspects related to health. The student, when the subject is finished, will have to understand the main genetic laws that govern the transmission of hereditary pathologies and the biochemical and molecular aspects associated with the transmission of genetic information.
Competences/Learning outcomes of the degree programme
07 - Understand and recognize the normal structure and function of the human body, from the molecular, cellular, tissue, organic and systems point of view, in the different stages of life and in both sexes.
25 - Recognize the determinants of health in the population, both genetic and dependent on sex and lifestyle, demographic, environmental, social, economic, psychological and cultural.
CB-5 - Know how to convey in a clear and unambiguous way to a specialized audience or not, results from scientific and technological research or the field of the most advanced innovation, as well as the most relevant foundations on which sustain.
31 - Know, critically evaluate and know how to use the sources of clinical and biomedical information to obtain, organize, interpret and communicate scientific and health information.
36 - Be able to formulate hypotheses, collect and critically evaluate information for problem solving following the scientific method.
09 - Understand and recognize the effects, mechanisms and manifestations of the disease on the structure and function of the human body.
34 - To have, in the professional activity, a critical, creative point of view, with constructive skepticism and oriented to the investigation.
Learning outcomes of the subject
At the end of the course, the student:
- To know the mechanisms of storage and processing of genetic information, as well as the different levels of organization of the human genome.
- To know and apply the basics of genetics, as well as their methods, in the study of genetic pathologies.
- Know and recognize the different types of genetic inheritance and the probabilities of transmission in each type.
- Know the different types of mutations and be familiar with the HGVS nomenclature.
- Recognize basic karyotypes and their nomenclature.
-Solve basic problems of population genetics and quantitative genetics.
Syllabus
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)
Teaching and learning activities
In person
The teaching resources to be used will be the following:
Lectures (CM): 50 minutes + 50 minutes of a theoretical lecture by the teacher.
Clinical Cases (CC) or Case Methods: (crossed self-assessment in the form of a workshop or debate-type case methods): Approach to a real or imaginary situation and problems applied to said situations. The teacher actively intervenes at the beginning of the class if it is necessary to provide new knowledge or to remember the key aspects of the subject necessary for this method of the case or clinical case. Students work on the questions and problems formulated in small groups and individually, each student sends the work through moodle before the end of the class (60% of the grade). Once the class is over, a number of reviewers (3-4) will be assigned per work and the students will carry out a peer evaluation of their work colleagues who are not theirs (40% of the total grade). For this second part of the evaluation, the students have approximately a week or a week and a half and they are given how to score each question and which are the correct model answers. The teacher makes an average of the different scores that each student has received from their reviewers and a global average of the entire group that has done the same work. If there are doubts or unclear concepts, the teacher comments on the moodle forum. Some methods of the case are debate type.
Practices (P): Experimental demonstration in the laboratory of the concepts worked in the theoretical classes. Familiarization with the most common experimental resources in a genetic laboratory.
Virtual education (EV): Online material that the student can consult from any computer, at any time and which will constrain to the self-learning of concepts related to the subject.
Evaluation systems and criteria
In person
1) Students in first call:
20% Examen partial
50% Final exam.
10% Participation and attitude in class
10% Preparation and participation in clinical cases (7%), Moodle Questions (3%).
10% Examination of practices
EXTRA EXCELLENCE mark (extra mark not always applicable, maximum 1 point): those students who show a level of excellence in their academic activities may be increased by a maximum of one point (1) the mark (about 100%) prior debate in the cloister.
2) Second call students: same evaluation criteria as in the first call.
3) Students with two or more of two exams canceled: they will make the final examination of each call that will count 70% of the final mark and that will do half with the note of practices, participation in class and preparation of the clinical cases obtained in the first call Whenever they wish, the students will be able to repeat the attendance to the practices, clinical cases and ABP and obtain a new note.
General points to keep in mind about the evaluation system:
1) 20% of exam questions can be concepts not explained in the classroom, but present in the recommended bibliography.
2) VERY IMPORTANT: In order to be able to do an average with the marks in Clinic cases, lab practices and moodle questions, in the final exam the minimum mark should be 5 points. With fewer points than a 5 in the final exam, no average will be done for the rest of the marks (Clinic cases, lab practices and moodle questions) and the student FAIL the subject.
3) Attendance to laboratory practices is mandatory. Non-attendance means an automatic suspension of the subject. The lack of punctuality to the assistance to practices will result in drawing points from the part of the practice note.
4) The expulsion of a student from the laboratory classroom will mean the suspension of the subject. It is mandatory to bring the lab coat, without it the student can not do the laboratory practices which would mean that the student fails the subject.
5) Participation in class means the contribution of interesting ideas or the approach of relevant questions that help to improve the quality of the session, be it master lecture, clinical case or practices.
6) The exams will be of type test with 4 options of answer, counting +1 the correct ones and -0.33 the errors.
7) Attendance at the theoretical classes is not compulsory, but attendees must follow the rules indicated by the professors.
8) Failure to attend or fail to present the task of clinical cases or case methods on time will be assessed as zero in that clinical case or case method.
EXAM RULES
1. Students must follow the comments and rules said by the teacher
2. It is forbidden to consult anything on the computer; you cannot open any other program than Moodle. It is forbidden to use or touch your mobile or iwatch. You must put your belonging aside. Standing up and leaving the exam room during the exam is prohibited.
3. You will be monitored by several teachers. If suspicious actions are detected, the person will be invited to leave the exam and will be marked with a zero for this test and will be invited to proceed to the next sitting.
4. The purpose of an exam is to check if you have studied the material and obtained the concepts.
RULES FOR EXAMINATION REVIEW
1. Students must follow the teacher's comments and rules that are similar to the exam rules.
2. The student will be able to review his exam on the day and time stipulated for it. There will only be one review per exam.
3. The main purpose of the exam review is to look at your scores and see where you failed and if you misunderstood the question or misread it. It is not a master class or teaching. There is no point in memorizing or writing down the questions, as other questions will be asked in subsequent exams.
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 24/05/2023 14:00h
- E2 26/06/2023 I3 09:00h