Cell Biology: Medical Genetics and Embryology

Course Code :1019GENGE1
Study domain:Medicine
Academic year:2017-2018
Semester:2nd semester
Contact hours:0
Credits:6
Study load (hours):168
Contract restrictions: Faculty decision based on student file
Language of instruction:Dutch
Exam period:exam in the 2nd semester
Lecturer(s)Geert Mortier
Bart Loeys
Wim Wuyts
Lut Van Laer
Jenneke van den Ende
Bettina Blaumeiser

3. Course contents *

Starting in 2016-2017, the course on Medical Genetics will take another format. The course will be given based on the book New Clinical Genetics 3 (editors: A Read and D Donnai). This book was chosen because it discusses the many topics relevant to medical genetics by using interesting and illustrative clinical cases. In addition, it also offers the student self evaluation tools. The chapters in the book are well written and easy accessible for first-year medical students. It also is a reliable resource and study book for the coming years (bachelor and master in medicine). The most important themes in clinical and medical genetics are discussed in the book and include: genetic counseling and risk assessment; the spectrum of genetic disorders (chromosomal, monogenic, multifactorial or polygenic and cancer) with the corresponding inheritance patterns (Mendelian and non-Mendelian) and the detection methods (karyotyping, array, FISH analysis, sequencing); structure and function of the human genome; nature and effect of genomic mutations; epigenetics; population genetics; genetic testing and screening; identification of new genes (research) and gene therapy. The student is expected to first read and go through each chapter (self study) after which the teacher will further elaborate on and discuss the chapter and also help the student in solving the self assessment questions that one can find at the end of each chapter. It is the goal of the course to more activate and actively involve the student when studying the fascinating field of medical genetics.