Rare Disease Funding Milestone: CURE Epilepsy Partnership Advances FAM177A1 Science

We are thrilled to be selected by CURE Epilepsy as co-funding partners for this new rare disease funding opportunity, the Rare Epilepsy Partnership Award! This collaboration represents a significant milestone in our shared commitment to transforming lives affected by epilepsy and related disorders.

Rare Disease Funding of Breakthrough Research

FAM177A1-related disorder (FRND) is a rare neurodevelopmental disorder associated with intellectual disability, developmental delays, autism, and 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. 

Berrak Ugur, Ph.D. at Yale University and her 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, the proteins 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. 

Gratitude for Rare Disease Funding

We are incredibly grateful to CURE Epilepsy for their generous support of our mission. This rare disease funding fuels our progress toward a cure for all children living with, or who will be diagnosed with, FAM Disorder.

Thanks to the extraordinary generosity of our donors, we are able to match CURE Epilepsy's $50,000 grant, dedicating a total of $100,000 to FAM177A1 research.

Together, we are accelerating cures and creating a brighter tomorrow for our FAM FRNDs.