With the support of the Marguerite-Marie Delacroix Foundation, our research group has been awarded a €132,600 research grant to further investigate CTR9-related neurodevelopmental disorders.
CTR9 was recently identified as a novel disease gene associated with a neurodevelopmental disorder. As only a limited number of patients have been reported worldwide, much remains unknown about the clinical presentation, the underlying disease mechanisms, and the optimal medical management of this condition.
Through this project, we will establish an international patient cohort and further characterise the disorder at both the clinical and molecular levels. To achieve this, we will combine detailed clinical data with neuroimaging, DNA methylation analyses, and functional studies. The findings will contribute to improved diagnosis, a better understanding of disease mechanisms, and the development of more targeted care for patients and their families.
Project:Clinical and Molecular Characterization of CTR9-related Neurodevelopmental Disorder
Funding: Marguerite-Marie Delacroix Foundation (2026–2028)
