The Cell Cycle and Human Diseases

Course Aim

• Describe and understand genetic diseases and the underlying molecular defects.
• Relate cell division mechanisms and defects to diseases.
• Use imaging technologies and analysis tools to visualize the cell cycle and cell structures.
• Design experiments to investigate molecular mechanisms of cell division.

Course Description

Cell division is the key to life. We all started out as a single cell, which divided billion of times to form an organism with complex tissue structures and the ability to think, create and learn. Defects in cell division are often fatal at an early stage of human development. Mutations in the germline can lead to genetic disorders that impair physical and mental abilities such as microcephaly or DNA repair-deficiency disorders, which increase the predisposition for diseases that occur later in life. On the other hand, mutations in dividing somatic cells can lead to genome instability, which is a hallmark of cancer. Many of the above-mentioned diseases are related to defects in the cell cycle, which coordinates genome and cell organelle duplication with cell division. Main topics of this course include genetic disorders that are related to mechanisms of cell division and are discussed using primary literature. Central elements of the cell division machinery and disease-causing defects are investigated in the laboratory using fluorescent imaging of living cells in combination with clinically relevant drugs and protein-specific chemical inhibitors.

Course Contents

1. The cell cycle and genetic diseases: Overview and introduction to the topic
2. DNA damage, repair, and DNA repair-deficiency disorders
3. Centrosome function, duplication, and Microcephaly
4. Cilia assembly, function, and Ciliopathies
5. Mitosis, chromosome segregation and related diseases (Mosaic Variegated Aneuploidy, Mulibrey Nanism)
6. Genome instability and disease-related mechanisms (Aneuploidy, ecDNA and micronuclei)
7. Cell cycle control, apoptosis, and senescence
8. Clinical development of cell cycle drugs
Practical Course:
1. Single Cell Imaging using fluorescent reporter genes.
2. Investigation of chemotherapeutic drugs and protein-specific inhibitors.
3. Imaging analysis tools (ImageJ and Cell Pathfinder)


Attendance and Participation (40%). Presentation of two scientific publications from a selection of manuscripts that will be provided (40%). Occasional multiple-choice quizzes (20%).

Prerequisites or Prior Knowledge

Molecular Biology and Genetics required.

Recommended complementary courses: Molecular Oncology and Cell Signaling (Prof. Yamamoto); Molecular Biology of the Cell (Prof. Kono) and Modern Genetic Technologies (Prof. Kiyomitsu)