Richmond (UK) Marathon September 15, 2024

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 200 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 Edith, Haley, Mathilde and 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. Whats in the research roadmap?

Sponsor 3 Post Doctoral researchers to work alongside our lead scientists to exclusively research NR2F1 and BBSOAS for 3 years, in US, France and Germany
A NR2F1 ‘New Investigator’ grant. Attract junior researchers to research the NR2F1 gene
Develop a new BBSOAS mouse model
Discovery of BBSOAS Biomarkers

Who are the dream team of athletes running?

Tim - Dad to BBSOAS Edith, London, UK
Jeff - Dad to BBSOAS Haley, coming all the way from Pittsburgh USA!
Nesrine - Mom to BBSOAS Mathilde, coming all the way from Paris, France! (half marathon)
Sam - Uncle to BBSOAS Edith (half marathon)
Adam - Friend to BBSOAS Edith
Katie - Friend to BBSOAS Edith
Pedro - Friend to BBSOAS Edith
Izzy - Friend to BBSOAS Edith

Help Lead the Way to Answers

The NR2F1 Foundation is working hard to advocate and empower affected families. Through research, we can find more answers to this rare genetic variant. Help us fulfil this mission!

BBSOAS UK Marathon - September 15 2024

Team Members