NR2F1 Foundation

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)

We're a non-profit organization that supports families and individuals around the world living with rare NR2F1 gene variants. These gene variants cause a neurodevelopmental disorder called Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS).

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How can we help you?

How can we help you?

What we do

Our vision is that every single family and individual living with rare NR2F1 variants will live a full and empowered life. Our mission is to empower families and individuals living with rare NR2F1 variants through education, advocacy and research.

Educate people

Let us teach you about BBSOAS. We have recommended actions, resources, and connections that can help.

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Empower families

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

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Drive research

So much about BBSOAS remains unknown. We work hard to uncover the mysteries of this condition and develop therapies.

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513 patientsHeart50 countries

An accurate count of BBSOAS cases worldwide helps us share meaningful data with our community of scientists, researchers, and families like yours.

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2026 Family & Scientific Conference

We bring together leading BBSOAS researchers from around the world alongside our community to collaborate, share the latest research, and inspire positive change.

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Support our work

There are plenty of ways to help. You can support us by donating, volunteering a few hours a month or helping us fundraise. Help us fulfil our mission!

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Memberships & partners

  • candid guidestar
  • Global genes
  • The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders
  • Rare epilepsy network
  • National organization for rare disorders