Universitat Internacional de Catalunya

Introduction to Medical Genetics

Introduction to Medical Genetics
First semester
Main language of instruction: Spanish

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:

Dra.  Veronica Venturi (vventuri@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.

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.


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.


  • 07 - Understand and recognise normal structure and function of the human body at the molecular, cellular, tissue, and organ and systemetic levels, at different stages of life and in both sexes.
  • 09 - Understand and recognize the effects, mechanisms and manifestations of disease on the structure and function of the human body.
  • 25 - Recognize the determinants of public health; genetic and sex-dependent lifestyle, demographic, environmental, social, economic, psychological and cultural determinants.
  • 31 - Understand, critically evaluate and know how to use sources of clinical and biomedical information to obtain, organize, interpret and communicate scientific and health care information.
  • 34 - Ability for critical thinking, creativity and constructive skeptisim with a focus on research within professional practice.
  • 36 - Be able to formulate hypotheses, collect and critically evaluate information for problem solving using the scientific method.
  • CB-5 - To transmit in a clear and unambiguous way to a specialised or non-specialised audience, the results of scientific and technological research projects and innovation from the field of the most advanced innovation, as well as the most important concepts which they are based on.

Learning outcomes

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

Teaching and learning activities

In person

 We will teach and learn in blended as following:

VIRTUAL SESSIONS: All the magistral sessions will be carried using the moodel resource Collaborate.

PRESENTIAL SESSIONS: Group reduced sessions (practical lessons and case methods) will be carried presentially in UIC Barcelona facilities.

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.

Evaluation systems and criteria

In person

1) Students in first call:

50% Final exam

It will consist of 40 test-type questions with 1 single correct option, counting +1 hits and -0.33 errors. The final exam must be passed to average with the other marks obtained.

10% Partial exam. 

It will consist of 15 test-type questions with 1 single correct option, counting +1 hits and -0.33 errors. It will take place halfway through the course.

20% Continuous assessment.

Different questions will be asked for Moodle or during the master sessions. They will not be compulsory, the student will be responsible for the activities that realize, finishing translating with a note in function of the quantity and quality of his work.

10% Practices.

The practice exam and participation and attitude in class will be valued. Attendance is mandatory and essential to pass the course.

10% Case Methods.

5% questions in the final exam. 5% teamwork, presentations and participation and attitude in class will be valued. Attendance is mandatory and essential to pass the course..


2) Students in second call: same evaluation criteria as in the first call.


3) Students with two or more than two exhausted calls: they will take the final exam of each call that will count 80% of the final grade and that will average with the mark of practices, participation in class and preparation of 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 grade


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 and 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 recommended.

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

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

E: exam date | R: revision date | 1: first session | 2: second session:
  • E1 20/01/2023 09:00h

Teaching and learning material