The NR2F1 Foundation is actively involved in increasing research into BBSOAS and the NR2F1 gene. We do this through community engagement, data collection, partnerships, awareness, funding basic and translational science.
Our goals
Empower and engage families in research through collaborative projects including the NR2F1 Patient Registry
Strengthen relationships with existing partners invested in research for NR2F1 while building new, powerful collaborations
Engage the scientific advisory board and external researchers to build a research strategy
We want to accelerate the understanding of the NR2F1 gene and ultimately identify treatment.
Registering a patient with the NR2F1 Foundation
We want to keep track of the number of diagnosed cases around the world, so that we can share this with you and our community of scientists and researchers.
By registering with us, you’ll also receive important and helpful communications from the NR2F1 Foundation.
Learn moreKey initiatives and sponsored projects
Patient Registry
The NR2F1 Patient Registry collects information on how BBSOAS affects a person over a lifetime to better understand the disease. The data collected from surveys helps researchers and families learn more about BBSOAS.
Learn more about the Patient Registry
NR2F1 sponsored Post Doc Researcher
In June 2024, our foundation committed to a three-year sponsorship and awarded the funds to Dr. Schaaf, professor and chair of Human Genetics at Heidelberg University, to hire Dr. Elsa Wassmer.
Dr. Wassmer focuses exclusively on BBSOAS and the NR2F1 gene. She acts as a key resource coordinating across all BBSOAS researchers around the world.
Dr. Veeral Shah at Cincinnati Children's Hospital
The NR2F1 Foundation began partnering with Dr. Shah to establish a BBSOAS CVI Clinic in 2023, where Dr. Shah meets BBSOAS patients. This enables further research into BBSOAS and CVI.
Dr. Veeral Shah meets BBSOAS patients in his clinic. To schedule an appointment with him, contact CCHMC main ophthalmology line at +1-513-636-4751 or email Ophthalmology@cchmc.org
Learn more about the launch of the clinic
Dr. Sarah Poliquin, Scientific Officer
As well as being a member of our scientific advisory board, we rent the expertise of a Scientific Officer from COMBINEDBrain. Sarah has been working with the NR2F1 Foundation since 2023.
Dr. Magdalena Laugsch et al at Heidelberg University
The NR2F1 Foundation has worked tirelessly over the course of the last 2 years to collect biorepository samples (blood and urine) from BBSOAS patients and their families.
With a grant from the NR2F1 Foundation, those samples have been turned into data and are now being analyzed to identify potential biomarkers. Biomarkers are important for the development of drugs, biologics and certain medical devices.
Learn more about biomarket development here
Drug Repurposing Project
In early 2025, the NR2F1 Foundation issued a grant to Dr. Chow at University of Utah. Dr. Chow runs drug screens to check whether any existing FDA or European-approved drugs have a positive impact when it comes to treating symptoms of BBSOAS.
Learn more about the Drug Repurposing Project: introduction to project and most recent update here.
Communication ability and CVI outcome measure reported by observers
Beginning in 2022, the NR2F1 Foundation participated in a study to learn how individuals with neurodevelopmental disorders typically communicate from the caregiver’s perspective. This has helped refine the measurements used going forward.
NR2F1 Foundation strategic research meetings
Beginning in October 2023, the NR2F1 Foundation board and scientific advisory board come together every 2 years for a strategic research meeting. The purpose is to review and prioritise the research agenda. The next meeting takes place in Germany in October 2025.