Neurobiology Discovery through Systems Biology of a Rare Genetic Disorder
Victor Faundez
Professor and Vice Chair, Department of Cell Biology, Emory University
November 6, 2024
![Victor Faundez](https://bcbp.tamu.edu/wp-content/uploads/2024/07/Screenshot-2024-07-05-124809.png)
Seminar Details
Host: Climate Committee
Time: 4:00pm-5:00pm
Location: BCBP Rm 108
Seminar Abstract
Rare diseases provide an opportunity to understand central molecular mechanisms affecting humans and shared by common diseases. In this presentation, I will focus on genetic defects affecting copper transporters that cause childhood neurodegeneration and neurodevelopmental disorders. We utilized systems biology to investigate mechanisms conferring resilience to cellular copper depletion. We identified changes in mTOR and PERK signaling cascades, ultimately controlling protein synthesis in copper-deficient cells. Increased protein synthesis improved the fitness of copper-deficient cells and neurons with copper transport deficiencies. We propose that modulation of mTOR and PERK signaling could ameliorate the severity of copper-deficiency diseases by altering cell responses to extracellular stimuli.