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Jun 7

Research Bit: New screens for C9ORF72 mechanisms

Research Bits
The Packard Center welcomed Aaron Gitler from Stanford University to our recent Investigator's Meeting.

Meeting Date: 7 June 2019

Presenter: Aaron Gitler

Talk Title: New screens for C9ORF72 mechanisms


What was the question being asked?

Many labs use “model systems” to study the disease mechanisms that both initiate and drive ALS progression. ALS models that use human cells (like neurons) can take a very long time to grow and study. However, many of the genes expressed in human cells have close family members in yeast, which grow much more quickly. Therefore, using yeast as a model for ALS can allow for rapid identification of important ALS genes. This can be done using a “screen,” which is a technique that can systematically turn on and off every gene contained within a cell’s DNA. Through this process, scientists can identify genes that slow down or speed up the death of cells that have ALS.

Why is this important for ALS research?

The Gitler lab has used yeast to identify many important genes that contribute to ALS progression, as well as tools that can be used to better study this disease in human cells. Some of these genes are directly involved in cell death, which has important implications in this degenerative disease. Using human neuron cultures, these genes have been observed to drive cell death in the setting of ALS.

How do you think the results of this study might impact future approaches to the treatment of ALS?

The combination of yeast and human models provides the best of both worlds: the speed of yeast with the direct relevance of human cells. By combining experiments using each of these models, future ALS research can be hastened and readily validated in cultured human neurons, increasing the impact for the field.


Ben Zaepfel
Ph.D. Candidate | Rothstein Lab
Biochemistry, Cellular and Molecular Biology Ph.D. Program

The Johns Hopkins School of Medicine

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