The 2022 Family and Scientific Conference
Was a Success!
The 2022 NR2F1 Family and Scientific Conference was held this year in Orlando, FL, on April 6 – 8. It was attended in-person and virtually by families from around the world who have a family member that has been diagnosed with BBSOAS. Ten countries were represented including Chile, Armenia, Germany, France, Israel, and Sweden, and 21 states in the US. Among the 180 in attendance, 70 were BBSOAS patients.
Click HERE to watch the presentations
Statement of Purpose
To provide a hybrid platform:
for NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) researchers and doctors to meet and share research findings to foster the growth of an international scientific community for a collaborative path to further BBSOAS research.
AND
for BBSOAS families to connect with each other to foster empowerment and enhance their knowledge of BBSOAS/NR2F1 science and research in order to further patient-led research.
Click on the links below for PDF’s of conference presentations:
Clinical Manifestations of BBSOAS Across the Lifespan – Dr. Christian P. Schaaf
Vision Findings From the 2018 BBSOAS Conference – Dr. Jane Edmond
Developing a BBSOAS Research Roadmap – Dr. Kyle Horning
Natural History is Power: The Rare Patient’s Most Valuable Resource – Dr. Terry Jo Bichell
NR2F1 Patient Registry LAUNCH! – Carlie Monnier & Stephanie Fountain
