Project: Investigating Sleep and Circadian Dysregulation in Okur-Chung Neurodevelopmental Syndrome (OCNDS)

Lead Investigator: Vishnu Cuddapah, MD, PhD, Assistant Professor, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine

Grant Details:

Project funded for 1 year starting in 2025 for a total of $70,025.

Aims of Grant:

Sleep and circadian rhythm disturbances are common in individuals with Okur-Chung Neurodevelopmental Syndrome (OCNDS), yet their underlying mechanisms remain poorly understood. Studying these phenotypes can provide critical insights into the role of CSNK2A1 in neurodevelopment and offer potential therapeutic targets to improve sleep-related symptoms in individuals with OCNDS.



This project aims to further characterize sleep and circadian phenotypes in individuals with OCNDS through ongoing clinically relevant questionnaires, developing Drosophila (fruit fly) models harboring 7 distinct CSNK2A1 variants to assess their impact on sleep and circadian rhythms, and screening a curated list of compounds to identify drugs that may reverse sleep and circadian phenotypes. By validating drug candidates in a high-throughput system, we aim to accelerate the path toward preclinical studies, complementing ongoing research in mouse and iPSC models. The findings will contribute to a deeper understanding of OCNDS pathophysiology and inform future therapeutic strategies.