Patient Count Update—Nov 25, 2025

We believe there is power in numbers — every new diagnosis matters.

For the first time since the Foundation launched (2018) we now have a patient count! Here is our second census this year. Knowing how many individuals are diagnosed helps us share meaningful data with our community of scientists, researchers, and families like yours.

Join or Update the NR2F1 Patient Registry

We’re asking all BBSOAS families worldwide to take part in the NR2F1 Patient Registry. Whether you’re new or returning, your information is vital for research, future treatments, and clinical trials.

Why it matters:

• Help doctors and researchers understand BBSOAS symptoms and progression

• Support treatment development and clinical trial readiness

• See anonymous summaries from other families once you've completed your surveys

Available in 7 languages — just change language via the globe icon after logging in.

How to take part:

1. Register or log in to the NR2F1 Patient Registry (Matrix)

2. Complete all surveys in your dashboard

3. Upload your child’s genetic report

Every number tells a story. Every story brings us closer to understanding and improving life with BBSOAS.