Understanding
Okur-Chung Neurodevelopmental Syndrome
Project: Characterization of Mouse Models of OCNDS
Lead Investigator: Dr. Heike Rebholz PhD.
Dr. Rebholz is an eminent neuroscientist and biochemist based in Paris, France at the Institute of Psychiatry and Neuroscience of Paris. Dr. Rebholz studies the communication between specific subtypes of brain cells, dubbed serotonergic and dopaminergic neurons. She is a leading expert specifically in the role of the protein CK2, partially encoded by the gene CSNK2A1 whose genetic mutation causes OCNDS, in this signaling between brain cells.
Grant Details:
Project funded for 3 years starting in 2023 for a total of $141,164.
Aims of Grant:
Dr. Rebholz and her team will characterize four mouse models of OCNDS, whose mutations in the CSKN2A1 gene represent many variants seen in patients. Through this study, the effects of OCNDS will be profiled from a macroscopic to microscopic level, looking for changes in behavior, neuron functionality, and the proteome. This will provide conclusive evidence for the molecular basis of OCNDS and will provide pre-clinical models for testing future treatments.