Family With Sequence Similarity 177 Member A1 (FAM177A1)-related disorder is a rare neurodevelopmental disorder associated with intellectual disability, developmental delays, autism, treatment-resistant seizures. Early studies showed that FAM177A1 plays a role in a part of the cell called the Golgi complex, which helps process and transport proteins. However, the exact mechanism of action of FAM177A1 and its function in human brain cells are poorly understood. To investigate this, Dr. Berrak’s team will use patient derived neuronal cellular and 3D brain-in-a-dish (organoids) models to examine where the FAM177A1 protein is located in neurons, protein it interacts with, and how its loss may affect neuronal growth and function. This project will generate models to study FAM177A1-related disorder and provide a better understanding of the role of FAM177A1 in brain development, uncover the biological causes of this disorder, and lay the foundation for potential future therapies.
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