The Faundez Lab
Department of Cell Biology. Emory University
We are a cell biology laboratory focused on the study of novel neuronal mechanisms using systems biology, biochemical, functional, and genetic strategies.
We are particularly interested in the biology of rare human neurodevelopmental and neurodegenerative genetic disorders. We view these disorders as a fertile and untapped space to discover novel biology affecting neurons.
To encompass diverse mechanisms of synapse dysfunction in rare disorders, we have selected Menkes disease, the 22q11.2 microdeletion syndrome, Rett syndrome, and CDKL5 disorder. All these diseases share neurodevelopmental and/or neurodegenerative phenotypes expressed early in the childhood. Our current interest Has been driven by data to focus on the mitochondria.
The human brain consumes five orders of magnitude more energy than the sun by unit of mass and time.
This staggering bioenergetic cost serves mostly the synapse. The peak of both brain bioenergetic demands and the age of onset for neurodevelopmental disorders is ~FIVE years of age. This correlation suggests to us that defects in mitochondria could cause neurodevelopmental disorders.
Thus, we hypothesize that defects in mitochondria are key steps in a cascade of events that ultimately result in synaptic impairments observed genetic disorders of human neurodevelopment.
