Universitat Internacional de Catalunya - BarcelonaIntroduction to Medical Genetics
Main language of instruction: English
Head instructor
Dra. Laura GASA - lgasa@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. Laura Gasa (lgasa@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. Mitosis, Meoisi and Recombination (A / Sexual Reproduction)
Topic 3. Mitosis, Meiosis problems
Topic 4. Replication
Topic 5. Mendelian genetics, patterns of monogenic inheritance and analysis of Mendelian problems.
Topic 6. Extensions of Mendelian Genetics.
Topic 7. Calculation of the risk of transmission in monogenic inheritance (problems)
Topic 8. Non-Mendelian inheritance and variants of phenotypic expression
Topic 9. Chromosomal disorders (case report)
Topic 10. Human genome
Topic 11. Genetics of cancer
Topic 12. Epigenetics
Topic 13. Multifactorial inheritance (virtual)
Topic 14. Breaking News in Genetics
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: