Neurobiology Discovery through Systems Biology of a Rare Genetic Disorder

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.