Universitat Internacional de Catalunya
Clinical Genetics
Other languages of instruction: Catalan, Spanish
Teaching staff
Students may consult the professors with questions at the end of each class. Outside of this time, an appointment must be requested by email:
Lectures and continuous assessment activities: Dr. Mayka Sanchez (msanchezfe@uic.es)
Laboratory sessions: Mr. Zain Gil Prado (zsgil@uic.es)
Introduction
In recent years, clinical genetics has undergone a true revolution with a major impact on medicine. It is currently applied to the diagnosis and prognosis of numerous diseases, contributing to the precise characterization of genetic disorders and paving the way for new therapeutic strategies and the consolidation of personalized medicine.
Genetics is not only key to the study of hereditary diseases but also to the understanding of highly prevalent multifactorial conditions such as cardiovascular, neurological, or cancer-related diseases. Increasingly early and accurate genetic diagnosis improves prevention, prognosis, and treatment, leading to a better quality of life for patients and a more rational use of healthcare resources. In this context, it is essential for health professionals to acquire basic knowledge of human genetics in order to recognize, interpret, and address the clinical, familial, and social implications of a growing number of genetic diseases, within an environment of rapid scientific and clinical innovation.
The course on clinical genetics contributes to the Sustainable Development Goals (SDGs) of the 2030 Agenda, particularly to SDG 3 (Good health and well-being), SDG 9 (Industry, innovation, and infrastructure), SDG 10 (Reduced inequalities), SDG 12 (Responsible consumption and production), and SDG 17 (Partnerships for the goals), by improving diagnosis and prevention in health, promoting biomedical innovation, reducing inequalities in access to genetic care, fostering the responsible use of resources, and encouraging international collaboration.
Pre-course requirements
To have passed the subject of Genetics or have the knowledge in order to understand the bases of the application of Genetics to clinical practice.
Objectives
Objectives
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Explain the basic principles of human genetics, including its organization, gene expression, and inheritance.
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Provide knowledge on the application of genetics in medicine, including diagnosis, clinical management, and prevention of genetic diseases.
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Foster the ability to identify patients with hereditary conditions and guide their appropriate clinical care.
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Teach the main genetic diagnostic techniques and result interpretation, as well as related ethical and legal principles.
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Promote understanding of personalized medicine, pharmacogenetics, and the clinical applications of genetics in various pathologies.
Competences/Learning outcomes of the degree programme
- CN11 - Identify the impact of microbiology, genetics and biochemistry on human health, as well as the diagnostic tools used in each of the different healthcare fields.
- CP02 - Apply scientific methodology to interpret practical or theoretical data by evaluating situations and results from a critical and constructive point of view.
- CP05 - Apply biological foundations in the search for practical solutions to health problems, following ethical standards and scientific rigour and respecting fundamental equal rights between men and women, and the promotion of human rights and the values inherent in a peaceful society of democratic values that includes inclusive, non-discriminatory language without stereotypes.
- HB05 - Recognise how the essential medicines work and their ability to modify biological activity.
- HB06 - Calculate the frequency and distribution of diseases, their causes and determining factors, as well as the necessary treatments to maintain or restore good health.
Learning outcomes of the subject
Upon completing the course, students should be able to:
- Identify the genetic basis of disease and human variability, and the medical relevance of genetic testing.
- Apply genetics in clinical medicine.
- Distinguish the main genetic diagnostic techniques used in current clinical practice.
- Identify the current limitations of genetic study results.
- Identify the ethical and legal implications of genetic studies and biomedical research.
- Use published knowledge and search tools, applying the scientific method, to solve clinical cases involving genetics.
- Create and interpret a pedigree and family study, as well as other types of genetic studies.
- Identify clinical problems or research needs to generate scientific knowledge in the field of clinical genetics.
Syllabus
A. Lectures (20 hours): presentation of theoretical topics by the faculty. During the lectures, the theoretical content of the course will be covered, and questions related to the subject will be addressed.
- CLINICAL GENETICS evaluation and structure of the subject. Introduction to Medical Genetics and Review of Family Trees, Karyotypes, Inheritance Types, and HGVS Nomenclature
- Congenital abnormalities, dysmorphic Syndromes and chromosomes disorders
- Inborn errors of metabolism
- Blood disorders, inherited cardiac conditions and renal disorders
- Connective tissue disorders and respiratory disorders
- Muscular dystrophies, motor neuron diseases and hereditary ataxias
- Learning disabilities, Neurological disorders, inherited peripheral neuropathies and neurocutaneous disorders
- Prenatal testing and reproductive Genetics
- Parmacogenetics and Gene theraphy
- Genetic counselling and ethical and legal issues in Medical Genetics
B. Genetics laboratory, over two days (6 hours): experimental demonstration in the laboratory of the concepts introduced in the theoretical classes. Familiarization with the most common experimental resources in a biomedical laboratory.
Laboratory practice in small groups.
C. Continuous assessment activities (4 hours):
Students will be required to solve practical cases and exercises during class sessions. Faculty will actively participate by providing explanations and new knowledge. Two specific sessions will be held: one in workshop format and the other as a competitive escape room. These activities are part of the course assessment. Attendance is not mandatory; however, failure to participate in these two sessions will result in the loss of the corresponding points in the final grade.
Teaching and learning activities
In person
Lectures (20 hours): Lectures consist of presenting the theoretical content of the course by the faculty, as well as addressing questions related to the course. These sessions will introduce the structure of the course and the fundamental concepts of clinical genetics, covering basic medical genetics as well as the application of diagnostic and therapeutic techniques in various genetic diseases. They allow students to understand the connection between genetics and clinical medicine and to explore practical, ethical, and legal applications of the discipline. Attendance is not mandatory.
Laboratory sessions (6 hours): During laboratory sessions, experimental demonstrations of the concepts covered in lectures are conducted, allowing students to become familiar with common experimental resources in a biomedical laboratory and to work in small groups for practical, hands-on learning. Attendance is mandatory.
Continuous assessment activities (4 hours): Continuous assessment activities consist of solving practical cases and exercises during class sessions, with active participation from the faculty providing explanations and additional knowledge. Two specific sessions are held, one in a workshop format and another as a competitive escape room. These activities are part of the course assessment. Attendance is not mandatory, but absence from these sessions will result in the loss of the corresponding points in the final grade.
Evaluation systems and criteria
In person
Students in the first sitting:
Active participation in class, in the forum, and attitude: 10 %.
Moodle Questions: 10%
The two continuous assessment activity sessions will account for 10 % of the final grade.
Laboratory sessions: 20%
Final exam: 50% by means of multiple answer test in which a success gives a point and an error subtracts -0.33. The final exam does not only evaluate the content of the theoretical classes, but also evaluates the knowledge acquired in the subject, whether in the master class, online, in the method of the case, in the material provided for study or in the laboratory.
Excellence (extra mark-not always applicable): those students who show a level of excellence in their academic activities may be increased by 10% the grade (over 100%) after discussion in the faculty. Students will be able to earn extra points for attending patient forums and conferences of interest in genetics.
Students in second or later sitting: the marks of continuous evaluation will keep, although if the student wants, she/he is allowed to repeat the assistance to the different methodologies and obtain a new note.
General points to consider about the evaluation system:
1) In order to be able to take an average, a minimum mark of 5 must be obtained in the final exam.
2) Attendance at internships/laboratory sessions is mandatory. Non-attendance means an automatic suspension of the subject. Lack of punctuality in attending internships will result in deducting points from the part of the internship grade. Justified causes of non-attendance include (all of them need an OFFICIAL certificate): death of a close relative, flight cancellation, illness (including COVID infection) OFFICIALLY certified, not valid the certificate issued by a familiar. In these cases an academic board will decide how to proceed.
3) Failure to attend or fail to present the work of clinical cases or case methods on time will be assessed as zero in that clinical case or case method.
4) Class participation means the contribution of interesting ideas or the raising of pertinent questions that help to improve the quality of the session, either master class or methods of the case.
5) The exams will be of test type with four answer options, where it will count +1 the successes and -0.33 the errors.
6) Attendance to theoretical classes is not compulsory, but attendees must be governed by the rules indicated by the faculty. If you do not arrive on time, you must enter silently without disturbing or interrupting the class.
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
Emery’s Elements of Medical Genetics- Peter Turnpenny and Sian Ellard. Edition 15th. Elsevier 2017
New Clinical Genetics 3- Andrew Read and Dian Donnai. ·3rd Edition Scion Publishing Ltd, 2015.
Evaluation period
- E1 12/01/2026 I3 14:00h
- E2 23/06/2026 I3 09:00h