3 ECTS credits
90 h study time
Offer 1 with catalog number 1007196BER for all students in the 1st semester at a (B) Bachelor - advanced level.
This course deals with human genetics. The student learns how errors (mutations) in the human genome can lead to hereditary diseases and how these mutations can be detected. We will first discuss the structure of the human genome, how the hereditary code works and how mutations can be passed on. The clinical consequences of chromosome and DNA abnormalities are discussed and illustrated on the basis of hereditary disorders.
But other mechanisms, such as epigenetic modifications, that can lead to aberrant expression of the genome are also explained. The interaction between the genetic code and environmental factors is further discussed in multifactorial disorders. The question of why certain (genetic) disorders are frequent and others less so is dealt with in population genetics. We also discuss how altered gene function can lead to disease and which (currently relatively limited) treatment options for hereditary disease are available.
The most important techniques for detecting genetic errors are explained in order to gain insight into the possibilities and limitations of genetic diagnostic tests. The student learns how to use genetic diagnostics later as a doctor and how to discuss this with the patient (counseling). It also provides insight into the scientific research that has led to the current knowledge of the human genome and what may lead to its further exploration. Possibilities for the prevention of hereditary disorders are discussed in the prenatal diagnostics and screening for genetic disorders classes. Cancer as a hereditary condition is examined in the lessons oncogenetics. In the lessons on the examination of the dysmorphic patient, genetic counseling and psychology, the hereditary disorders are approached from a practical clinical point of view.
The above material is elaborated in 28 hours of lectures and supplemented with some more practical elaboration of this in 4x2 hours of WPO.
The lectures are in line with Thompson & Thompson's textbook as much as possible, which is compulsory. The content of the lectures, WPO and this book are examined.
Exam material: The content of the lectures, WPO and textbook of Thompson & Thompson. In addition, course texts have been written in Dutch. These are intended as a supplement and to be able to read matters from the lectures again in Dutch (or in advance in preparation of course).
Exemptions: students with a different prior education, such as biomedical sciences, or who followed the medical genetics course at another university, are eligible for an exemption. To do this, two requirements must be met:
1) Submission of study curriculum / course unit sheet, points obtained for exams taken elsewhere;
2) Attending WPOs and making a replacement assignment. The medical genetics course has 4 WPOs for which 2 points can each be earned by participating. You can earn 12 points for the replacement assignment. This results in a score of 20, where 10/20 or higher is considered sufficient (of which at least 4/8 for WPO and 6/12 for replacement assignment).
The aim of the medical genetics course is to provide the future physician with insight into the diagnostic approach to a possible genetic problem. This problem is often situated in a multidisciplinary setting. To do this, it is necessary to gain insight into genetic disorders and their mechanisms.
Inheritance patterns of chromosomal, monogenic, multifactorial and other genetic disorders must be understood and the most frequent genetic pathologies memorized. It is important to realize that medical genetics usually involves working with different individuals within a family as opposed to other specialties where the individual patient is approached.
The aim of the course is also to learn to think practically about a problem that presents itself, i.e. to know theory and to be able to apply it in a practical (clinical) example. This includes being able to draw up and interpret a family tree, learning when a certain additional genetic research is appropriate, what the research can provide, how to formulate an application for an additional research, which tissue is best examined, and what the possibilities and limitations of genome diagnostics are. Basic techniques of important tests should be understood and described and results interpreted. It must be possible to estimate a risk for a couple who wish to have children and with a certain history of hereditary disease. The aim of the course is also to gain insight into the psychosocial and ethical problems that arise in the field of medical genetics and can reflect on this. Finally, it is important to have a good understanding of what genetic counseling entails and to be able to reproduce it, and to see how you can provide education later as a doctor in collaboration with specialists and centers for medical genetics.
The final grade is composed based on the following categories:
Written Exam determines 100% of the final mark.
Within the Written Exam category, the following assignments need to be completed:
The standardization works with a higher pass mark. The higher pass mark assumes that you will correctly answer 1/4 based on gambling. Then it is assumed that you have to get half of the other questions for a sufficient result. The raw scores are calculated linearly on an axis, at the VUB we start at 0. The multiple choice questions are corrected by using the test processing service of the Education and Student Affairs department.
This offer is part of the following study plans:
Bachelor of Psychology: Profile Profile Work and Organisational Psychology (only offered in Dutch)
Bachelor of Psychology: Profile Profile Clinical psychology (only offered in Dutch)
Bachelor of Medicine: Standard track (6 years) (only offered in Dutch)