Genetics
Matter: BIOLOGY
Main language of instruction: English
Other languages of instruction: Catalan, Spanish
Head instructor
Dra. Mayka SÁNCHEZ - msanchezfe@uic.es
Office hours
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:
Dra. Mayka Sanchez (msanchezfe@uic.es)
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 medical 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 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.
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.
At the end of the course, the student:
- Learn about the mechanisms for storage and processing of genetic information, as well as the different levels of organization of the human genome.
- Know and apply the basis of genetics, as well as their methods, in the study of genetic pathologies.
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- part II (Problem, CM)
Topic 8. Human genome, Mutations and Diseases
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
Case Method (CM) 5: Clinical cases in human diseases part I- Use of Databases (Problem, CM)
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)
The teaching resources to be used will be the following:
Lectures (CM): 50 minutes of a theoretical lecture by the teacher.
Clinical Cases (CC): Approach to a real or imaginary situation. Students work on the questions asked in groups taken and the answers are discussed in class. The teacher intervenes actively and if necessary brings new knowledge.
Practices (P): Experimental demonstration in the laboratory of the concepts worked in the theoretical classes. Familiarization with the most common experimental resources in a biochemistry 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.
1) Students in first call:
20% Examen partial
60% Final exam.
20% Participation and attitude in class, Examination of practices (10%), Preparation and participation in clinical cases (7%), Moodle Questions (3%).
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 80% 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) Assistance to clinical cases is mandatory. The lack of punctuality to the assistance to the clinical cases will result in drawing points from the part of the note of the clinical cases
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.
E: exam date | R: revision date | 1: first session | 2: second session: