Nr2F1 Foundation

The NR2F1 Foundation was co-founded in 2018 by parents passionate about advocating for and increasing knowledge about Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) that is caused by changes in the NR2F1 gene. Our mission is to empower families and individuals living with rare NR2F1 variants through education, advocacy, and research.

It is estimated that BBSOAS affects 1 out of every 250,000 babies born each year, i.e. approximately 4,000 babies are born annually with a change in their NR2F1 gene around the world. As the number of BBSOAS cases increases annually through better awareness and identification of the disorder, we believe it is our responsibility to connect with, engage, and empower NR2F1 families across the globe.
The NR2F1 Foundation is also leading the charge to increase research in BBSOAS / NR2F1. We do this through community engagement, data collection, partnerships, and funding basic and translational science.