Please join Vincent Bergin and his family (Bergin's) as we host our fourth annual Walk with Vincent for BBSOAS! This year is bigger than ever!

Join us on Saturday March 8 at 10:30am River Station Swim and Tennis - 4669 Outer Bank Dr, Norcross, GA 30092

Vincent was diagnosed with BBSOAS at the young age of one and will live with the limitations and unique challenges it comes with the rest of his life. BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, is a rare neurodevelopmental disorder caused by a disruption in the NR2F1 gene. BBSOAS is characterized by a wide array of clinical features, but the most common are visual impairment caused by optic atrophy, developmental delay, and intellectual disability. There are currently a few hundred known cases of BBSOAS worldwide with diagnoses rapidly increasing every month.

This is your opportunity to celebrate Rare Disease Day and support those individuals that fight through their limitations and daily challenges with a positive spirit and a smile. It's an opportunity to spread love and kindness to all individuals that bring so much joy!

This is a Free event, if you would like to make a donation to help improve the research and development of BBSOAS please donate here to the NR2F1 Foundation.

The NR2F1 Foundations mission is to empower families and individuals living with rare NR2F1 variants (BBSOAS) through education, advocacy and research. The NR2F1 Foundation is working hard to advocate and empower affected families and through research, we can find more answers to this rare genetic variant. Help us fulfill this mission!

LOVE TO YOU, FOR ALL THE SUPPORT SHOWN TO VINCENT AND/OR ANYONE ELSE LIMITED WITH A RARE DISEASE. REMEMBER…EVEN A SMILE GOES A LONG WAY!

With love and thanks,

Vincent and his family

Learn more about the type of work the NR2F1 Foundation funds?

Watch this short video with NR2F1 Foundation President, Jennifer Coughlin and Research Chair, Melissa Thelen explain a drug repurposing project

The NR2F1 Foundation in 2024 committed to a 3-year sponsorship and awarded the funds to Dr. Schaaf, Professor and Chair of Human Genetics at Heidelberg University and Medical Director of Human Genetics at the University Hospital of Heidelberg, to hire Dr. Elsa Wassmer. Dr. Wassmer now focuses exclusively on BBSOAS and the NR2F1 gene and it is the hope that this will be first of many similar grants the foundation will award to researchers. Read more here

What is BBSOAS?

BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, is an ultra rare neurodevelopmental disorder caused by a disruption in the NR2F1 gene. BBSOAS is characterized by a wide array of clinical features, but the most common are visual impairment, epilepsy/seizures, developmental delay, and intellectual disability.

There are only around 300 known cases in the world, and currently no cure or treatment. But there is one charity in the world trying to change that. The NR2F1 Foundation is funding research of BBSOAS in the hope to find treatment for all the other families living with the condition.

We are raising funds to support the NR2F1 Foundation, whose mission it is to empower families living with rare NR2F1 gene variants (BBSOAS) through education, advocacy, and research.

This year the NR2F1 Foundation need to raise a minimum of $205,000 to fund their research roadmap projects and operating costs.

Our vision is that every single family and individual living with rare NR2F1 variants will live a full and empowered life.

Vincent Bergin March 8th 2025

By NR2F1 FOUNDATION

Vincent Bergin March 8th 2025

Fourth annual 'Walk with Vincent for BBSOAS'