A patient with a deformed head is examined at the hospital. He has been diagnosed with Saethre-Chotzen syndrome. In this simulation, you will learn how to use an invertebrate model system to perform a forward genetic screening and find out the cause of this rare disease.

Knowing your model organism

The experiments performed in this simulation are based on C. elegans, an invertebrate model system widely used to investigate genetic diseases. Using the microscope, you will learn about its life cycle and identify the different stages, as well as how to differentiate males from hermaphrodites.

Give a twist to your genetic screening using fluorescence

Despite mutations in the TWIST gene being associated with this rare disease, the doctors could not find any mutation in this gene in the patient. In order to investigate further, you will mutate your sample of C. elegans. They already carry the green fluorescent protein linked to the Twist protein so you can track the individuals carrying mutations under the fluorescence microscope throughout the experiment. You will be able to perform a complete genetic screening in this invertebrate model system in one-tenth of the time you would need in real life!

Discover what mutations are involved in the Saethre-Chotzen syndrome

You will analyze the initial cross progeny from breeding a mutated male worm with hermaphrodites and screen the subsequent F2 and F3 generations. During the process, you will understand the differences between dominant and recessive mutations, and you will be able to explore each plate with the different generations of this invertebrate model system as much as you want!

At the end of the screening, you will be able to discuss which mutations are related to the disease phenotype. Will you be able to find the mutated protein?