There is power in numbers — every new diagnosis matters.
For the first time since the Foundation launched (2018) we have a patient count! Over the past few months, we’ve been working tirelessly to get the most accurate count of BBSOAS cases worldwide. Knowing how many individuals are diagnosed helps us share meaningful data with our community of scientists, researchers, and families like yours.
Thanks to the dedication of our amazing student intern, Abi from Kean University, we now have our first official BBSOAS patient count!
A quick note: This count isn’t complete yet — some information is still missing. If you received an email from Abigayle Nafus or were tagged in a post in our BBSOAS Parent Support Facebook Group, please respond so we can make sure your diagnosis is included.
Here is the global breakdown: We have been able to visualize where many of our BBSOAS cases are around the world by continent and by country!
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.
Already registered? Complete your surveys by September 1, 2025 to be included in this year’s findings.
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:
Complete all surveys in your dashboard
Upload your child’s genetic report
Every number tells a story. Every story brings us closer to understanding and improving life with BBSOAS.