Pathogenic Mechanisms of Disease 5

Look

Anna Corrionero Saiz, Horvitz Laboratory; Image taken in Martin Laboratory

Read

I am investigating the pathogenic mechanism/s of the most common genetic cause of amyotrophic lateral sclerosis (aka Lou Gehrig’s disease) and frontotemporal dementia using a tiny worm called C. elegans.

I have observed that loss of function of the C. elegans homolog of the ALS/FTD gene C9orf72 causes defects in the degradation of yolk in C. elegans embryos, and that this defect can be partially rescued by expressing the human C9orf72. These images (and others!) are helping me to understand the normal function of C9orf72 and how the loss of function of this gene might contribute to ALS and FTD.