Human Genetics

Prerequisites A good knowledge of Catalan and Spanish is indispensable, vehicular languages in which the classes will take place. It is advisable that the students have a good knowledge of English, since many of the information sources of this subject are in this language. It is convenient that the student has achieved basic skills in cell biology, biochemistry and molecular biology. It is convenient that the student knows the basic principles of genetics.

It is convenient that the student has achieved basic skills in cell biology, biochemistry and molecular biology.
It is convenient that the student knows the basic principles of genetics.

Objectives and Contextualisation
The subject is scheduled in the second year of the Medicine degree. Its general objective is to give students all the necessary information that will allow them to acquire knowledge about the organization, function and regulation of genes in normal conditions and will enable them to understand the mechanisms involved in genetic-based diseases.
The student will acquire advanced knowledge about human genome; epigenetics and regulation of gene expression; mutation and repair of DNA; pharmacogenomics; forensic genetics; genetics of development; inheritance patterns; cytogenetics; rare diseases; cancer genetics and population genetics. Communicate clearly, orally and in writing, with other professionals and the media. Critically assess and use clinical and biomedical information sources to obtain, organise, interpret and present information on science and health. Demonstrate basic research skills. Demonstrate understanding of the importance and the limitations of scientific thought to the study, prevention and management of diseases. Demonstrate understanding of the mechanisms of alterations to the structure and function of the systems of the organism in illness. Demonstrate understanding of the organisation and functions of the genome, the mechanisms of transmission and expression of genetic information and the molecular and cellular bases of genetic analysis. Demonstrate, in professional activity, a perspective that is critical, creative and research-oriented. Formulate hypotheses and compile and critically assess information for problem-solving, using the scientific method. Indicate the basic diagnosis techniques and procedures and analyse and interpret the results so as to better pinpoint the nature of the problems. Recognize the determinants of population health, both genetic and dependent on gender, lifestyle, and demographic, environmental, social, economic, psychological and cultural factors.

Learning Outcomes
Apply the basic techniques used habitually in the genetics laboratory. Communicate clearly, orally and in writing, with other professionals and the media. Compare the techniques and methods that help in genetic diagnosis. Demonstrate basic research skills. Demonstrate, in professional activity, a perspective that is critical, creative and research-oriented. Describe the anomalies of human chromosomes and evaluate their consequences. Describe the molecular bases of DNA mutation and repair. Describe the organisation, evolution, inter-individual variation and expression of the human genome. Explain the importance of research in the field of genetics. Explain the transmission mechanisms of genetic material. Formulate hypotheses and compile and critically assess information for problem-solving, using the scientific method. Identify the concepts and language of genetics and consult the scientific literature in the area of human genetics. Identify the distribution of genetic diseases in a given population taking their origin into account. Identify the epigenetic factors involved in the control of gene expression. Identify the genetic bases for the main diseases with a genetic basis or component. Identify the genetic bases of human development. Interpret scientific publications, and solve problems and case studies in the area of genetics. Interpret the results of a scientific project. Relate the genetic dysfunction with pathological phenotype. Understand scientific texts and write review papers on human genetics and genetic diseases.

Content
This subject is structured into the following sections:

Methodology
Theoretical classes: . Systematized exposition of the syllabus of the subject, giving relevance to 22 sessions the most important concepts. The students acquire the basic scientific knowledge of the subject in theory classes, which will complement the personal study of the topics discussed. Students can find a summary of the material used in class in the Virtual Campus and / or Moodle.

Seminars:
. Exhibition, in small groups, of relevant subjects of the subject. This methodology will 5 sessions allow students to review the most important or most basic topics necessary for understanding the subject.
Classroom practices (problems): . Exposition and resolution of cases and genetic problems 4 sessions presented by the professor.
Laboratory practices: . Exposure and application of the different techniques used in basic and 3 sessions molecular cytogenetics, and their clinical applicability IMPORTANT NOTE: Prior to the completion of laboratory practices, students must have completed the test IMPORTANT NOTE: Prior to the completion of laboratory practices, students must have completed the test that certifies the knowledge of the contents of the risk prevention manual and upload it to the Virtual Campus and / or Moodle. They are essential requirements to perform practices 1 and 2 take a lab coat and give the teacher a printed and signed copy of the risk prevention test. Assessment Evaluation A. The competences acquired in theory classes, seminars and classroom practices (or genetic problems) of this subject will be evaluated as follows:

Activities
1. Continuous evaluation: it will be divided into two partial exams: First partial: • Multiple choice objective test of the knowledge acquired in theory classes (topics 1-12) and seminars 1 and 2. This test must be passed with a grade of 5 or higher. This test corresponds to 35% of the final grade of the subject.
Second partial: • Multiple choice objective test of the knowledge acquired in theory classes (topics 13-22) and seminars 3, 4, and 5. This test must be passed with a grade of 5 or higher. This test corresponds to 35% of the final grade of the subject.
• Objective written test of questions related to classroom practices. This test corresponds to 10% of the final grade of the subject.
2. Final exam: Students who are in the following situations may be presented to the final exam: • Students who have obtained a grade below 5 of the theory part and seminars in any of the two partials.
• Students who have obtained a grade equal to or greater than 5 of the theory part and seminars in both partial • Students who have obtained a grade equal to or greater than 5 of the theory part and seminars in both partial tests but have not passed the subject.
• Students who want to upload a grade of one or both of the partials, or of the classroom practices or problems. The grade obtained in the final exam will be maintained.
This exam contains: • Multiple choice objective test corresponding to each partial. The student will choose to perform one or both tests depending on their situation. This test must be passed with a grade of 5 or higher. Each test will correspond to 35% of the final grade of the subject.
• Objective written test of questions related to classroom practices. This test corresponds to 10% of the final grade of the subject.
B. The competences acquired in the laboratory practices will be evaluated by continuous evaluation through a written test at the end of each practice. The average of the three tests corresponding to the three laboratory practices will be used to obtain the final grade. It is not necessary that the average of the three tests equal or exceed 5 to pass the course. Failure to show up to practice and, therefore, not perform the corresponding written test, represents a 0 in that laboratory practice.
The repeating students will only have to return to those lab sessions in which they have not reached a grade equal to or higher than 6 in the test of the corresponding practice, provided that this mark has been obtained in the last two years The final grade will be obtained as follows: Theory and seminar tests: 0 70% of the final grade Tests of classroom practices: 10% of the final grade Tests of laboratory practices: 20% of the final grade * To pass the subject it will be necessary to obtain a global grade equal to or greater than 5 out of 10.
* From a score of 4.8 inclusive, it will be possible to make an average between the two partials if said average is equal to or greater than 5.
* The "Non-evaluable" will reflect the non-attendance to the final exam of recovery for students who have not passed the subject previously in the partial exams or who have to evaluate the whole subject through the final exam of recovery.
C. In the case that the student does not exceed the assessment requirements of the subject and its average grade of is greater than 5, the final grade cannot be higher than 4.8.
Those students who have exhausted the three calls may apply to perform a special synthesis exam that will include the entire subject.

Review of the exams
After each one of the exams of the subject, the review of the exam will be convened during which the students will be able to consult their exam and, if necessary, make a written and reasoned claim.