Deciphering perturbations of primary cilia in Okur-Chung neurodevelopmental disorder

Awardee: Abdelhalim Loukil

Institution: Sanford Research Institute

Grant Amount: $60,013

Funding Period: February 1, 2025 - January 31, 2026

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Summary:

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.