Project: Deciphering perturbations of primary cilia in Okur-Chung neurodevelopmental disorder

Lead Investigator: Abdelhalim Loukil, PhD, Sanford Research Institute

Grant Details:

Project funded for 1 year starting in 2025 for a total of $60,013. This grant was funded in collaboration with the Orphan Disease Center at the University of Pennsylvania Perelman School of Medicine's Million Dollar Bike Ride. The CSNK2A1 Foundation raised $30,013 and the Orphan Disease Center contributed a $30,000 match.

Aims of Grant:

The proposed project aims to investigate how mutations in the Csnk2a1 gene contribute to a rare genetic disorder called OCNDS, which causes speech difficulties, motor impairments, and cognitive issues. We will look at how these mutations affect the function of primary cilia, which are tiny hair-like structures in cells that play an important role in cell communication and brain development. By studying both mouse models and patient cells, we will identify the specific molecular changes in cilia caused by the gene mutation and their effects on brain development. This proposal will help us better understand how ciliary malfunction contributes to developmental difficulties in OCNDS. Additionally, we hope to uncover novel therapeutic targets by identifying the molecular pathways affected by the mutation. Our ultimate goal is to provide insights that could lead to potential treatments for the neurological challenges seen in OCNDS.