Syllabus
Weekly course. The lecture is conducted in an interactive form, and an active discussion of the topic between students and the teacher is expected. During the lessons, the student will be introduced to new topics, which will then be discussed in depth using relevant publications and homework. For most lectures, the teacher selects one to three publications, depending on the topic. The teacher will send these publications to the students by e-mail in the format of pdf files so that they can study them ahead of the class and then be prepared for their discussion during the lecture. During the semester, some lectures will be supplemented by homework solved in small groups, which will not be graded but will significantly help in deepening the understanding of the subject matter.
1. Introduction, organization of the course, and requirements for fulfilling the course, definitions, and principles of genetic diseases.
2. Key signaling pathways of developmental biology - "Time and space 1"
3. Methodology of studying signaling pathways during development and main model organisms - "Time and space 2"
4. Wnt I - lack of signal + case reports
5. Wnt II - too much signal + case reports
6. Semaphorins + case reports (Mgr. Daniel Rozbeský, Ph.D.)
7. Tyrosine kinase receptors I - Kit / MAPK / ERK signaling + case reports
8. Tyrosine kinase receptors II - FGF + case reports (RNDr. Pavel Krejčí, Ph.D.)
9. Notch I - lack of signal + case reports
10. Notch II - too much signal + case reports
11. Tgf / Beta superfamily + Hedgehog signaling + case reports
Annotation
The course Signaling Pathways in Genetic Disorders is intended primarily for master's and/or Ph.D. students interested in expanding and connecting knowledge from the subjects of Developmental Biology and Molecular Biology of Signaling Cascades, focusing on the effects of mutations of intercellular signaling pathways in humans and methods of their study in model organisms (with a focus on mouse models). This course is conducted in English, each lesson is a combination of a theoretical lecture and a discussion of a pre-selected scientific article.
The lecture first defines genetic disorders and discusses the basic key characteristics of developmental signaling pathways and spatiotemporal regulation of gene expression. The consequences of systemically increased or decreased activity of individual signaling pathways are then analyzed on the examples of specific human genetic disorders and experimental procedures leading to their elucidation.
The main goal of this course is to understand the complexity of regulation and repurposing of the signaling pathways during the development of an individual, the potential outcomes of its deregulation, and the experimental logic applied when studying this issue.