Dyslexia is a specific impairment in learning to read which affects about 10% children. Dyslexia has a strong genetic component but little is known about the underlying biology. Imaging studies have consistently shown that the brain of individuals with dyslexia is less asymmetric compared to normo-readers. In 2004 I mapped the KIAA0319 gene, one of the few and most robust candidates for dyslexia. My work demonstrated a role of this gene during brain development but its exact cellular function remains poorly understood. Most recent experiments suggest that KIAA0319 plays a role in the development of cilia, which are cellular structures required to establish our left/right body asymmetries (e.g. heart on left side of the body). Defective cilia lead to asymmetry defects as well as problem during brain development.
This project will combine different molecular genetics and cell biology approaches to pinpoint the exact function of KIAA0319. Building on solid preliminary data, we will use state-of-the-art technology to observe what happen to cells and their cilia when the KIAA0319 gene is switched on and off. We will determine the exact cellular localization and the interacting partners of KIAA0319. The results will significantly advance our understanding of the biology underlying both dyslexia and cilia function. In particular, this project will elucidate fundamental mechanisms of cell biology implicated in the formation of cilia and their role in brain development, which are likely to be relevant to our understanding of the aetiology of neurodevelopmental disorders.