Universitat Internacional de Catalunya
Clinical Genetics
Other languages of instruction: Catalan, Spanish
Teaching staff
The student will be able to consult doubts 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)
Laboratory Sessions
Dra. Veronica Venturi (vventuri@uic.es)
Introduction
In recent years, Genetics has been experiencing a genuine revolution, which has had a substantial impact on Medicine. Currently, Genetics is being applied at the diagnostic and prognostic level to a large number of diseases. New advances in this area and the precise diagnosis and characterization of many genetic diseases will lead to the development of new therapeutic strategies and strengthen the foundations of a Personalized Medicine. In Medicine, more and more, Genetics is not only a tool for the study of genetic diseases but is also an integral part of the study of disease, as a cause or as a factor. The knowledge of the pathophysiology of non-genetic diseases cannot be understood today without the contribution of Genetics. Many disciplines of medicine are enriched by advances in genetics such as pharmacology (pharmacogenomics). The increased precision and early diagnosis of genetically based diseases gives significant advantages from the point of view of prognosis, prevention, and even therapy for a growing number of pathologies. This contributes to a reduction in morbidity and mortality from this type of disease, an increase in the quality of life of this type of patient and a greater rationalization of diagnostic tests or of certain therapeutic measures. We must bear in mind that, at present, we know of more than 6,000 human diseases with a marked genetic component, of which a high percentage are hereditary. Almost all of these diseases are classified as rare due to their low frequency. However, if we take all of them together, their social impact is very large, affecting between 3-8% of the population. Rapid advances in research in this field result in a significant gap between scientific possibilities and their direct application in daily clinical practice. In addition, this research leads to new fields of application that require great specialization. In this context, it is necessary for Health professionals to have a basic knowledge of Genetics and especially Human Genetics, in order to understand the pathophysiological bases of a large number of genetic diseases, their characteristics and clinical, family and social implications; to learn to identify them and be up-to-date on the diagnostic, prognostic and therapeutic possibilities of a growing number of genetic diseases. To date, diagnostic efforts have focused on monogenic diseases and diagnostic protocols are available for nearly 2,000 diseases. Furthermore, as these are usually developments based on recent research, the scarcity and heterogeneity of the available sources of information create large gaps of diagnostic uncertainty. However, it should be noted that the group of the most frequent diseases, and those that have the greatest impact on the population, is specifically the multigenic and multifactorial diseases. Among these we find some as frequent as cardiovascular, neuromuscular, neurodegenerative diseases (Alzheimer's, Parkinson's, etc.), mental retardation, asthma or cancer. It is essential that there is easy communication between the laboratory that studies diseases, variants, etc. and the clinical medicine that studies particular cases. In this subject we will try to facilitate this approach so that patients benefit from translational medicine.
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
To acquire sufficient knowledge of Genetics to be able to understand its current clinical applications, the limitations of the new available technologies and the most promising lines of applied research. To reduce the significant gap between scientific advances in the field of Genetics and their applications to routine clinical practice as well as to enrich the study of genetic bases with their present or future clinical application. To provide the necessary capabilities and skills to be able to identify patients with hereditary diseases and properly channel their clinical management and understand or give guidance when genetics can help to resolve a clinical case. The acquisition of basic knowledge in: • Human Genetics: how genetic information is organized, how genes are expressed and how they are inherited. • Applications of Genetics to Medicine: Identification, clinical diagnosis and clinical management of genetic diseases. • To know the hereditary nature of genetic diseases and their transmission mechanisms. • Prevalence, epidemiology and etiology of genetic diseases. • Genetic counselling, creation of a genealogical tree, inheritance patterns, estimation of genetic risks, communication of information to the patient, etc. • Genetic diagnostic techniques: Cytogenetics, molecular genetics and genomics. • Interpretation of results. • Genetic and genomic research. • Ethical and legislative principles related to genetic studies. Specialized knowledge of clinical applications such as; mental retardation, neuromuscular diseases, neurosensory diseases, cardiological and cardiovascular diseases, prenatal diagnosis, pre-implantation diagnosis, reproductive genetics, cancer, leukaemias. To understand personalized medicine and pharmacogenetics and treatments for genetic diseases.
Competences/Learning outcomes of the degree programme
Learning outcomes of the subject
At the end of the course, the student will be able to: Identify the genetic bases of human pathology and variability, as well as the medical importance of genetic testing: Know the applicability of genetics to Clinical Medicine: Learn about the main genetic diagnostic techniques used in current clinical medicine: Understand the current limitations of the results of genetic studies: Learn about the ethical and legal implications of genetic studies and biomedical research: Use published knowledge and research tools to solve clinical cases in which genetics is involved: Be is able to create and criticize hypotheses and, therefore, apply scientific method to solving cases in which genetics is involved: Be able to create a genealogical tree, a family study and interpret it: Be able to interpret a genetic study carried out: Identify clinical problems or future study needs to create scientific knowledge.
Syllabus
A. Lectures;
- 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. Laboratory sesions in 2 days;
Laboratory practice groups: G1, G2 and G3
C. Case methods;
The students will solve the cases working in the same groups as in the laboratory. The teacher will participate, actively contributing new knowledge. Two classes, one as a workshop and the other as a competitive case method style "escape room".
Teaching and learning activities
In person
Lectures: presentation on a theoretical topic by the teacher. In the master classes, the theoretical contents of the subject will be presented and queries related to the course will be resolved. They will be given in blocks of two hours.
Clinical cases or case methods (CM): Approach to a real or imaginary situation. Students work on the questions formulated in small groups or in interaction with the teacher and the answers are discussed. The teacher intervenes actively and, if necessary, contributes new knowledge. In this course we will try to introduce innovative teaching activities.
Laboratory sessions: experimental demonstration in the laboratory of the concepts covered in the theoretical classes. Familiarization with the most common experimental resources in a biomedical laboratory.
Evaluation systems and criteria
In person
Students in the first sitting:
Class participation and attitude: 10%
Moodle Questions: 10%
The two methods in the case will score 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 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 11/01/2023 I3 14:00h
- E2 20/06/2023 A15 09:00h