The NR2F1 Foundation created their patient registry earlier this year to facilitate patient driven research on BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. BBSOAS is a rare neurological disorder caused by a disruption in the NR2F1 gene, and is characterized by many different clinical features. With only a few hundred cases known in the world, new diagnoses are being made every month.
Recently, the NR2F1 Foundation applied for membership in NORD, National Organization for Rare Disorders. The Foundation is pleased to announce that NORD’s Board of Directors approved them to become a Platinum NORD member organization. The NR2F1 Foundation is honored to be a partner with an organization that works to empower the rare disease community by providing educational support and other resources.
NORD is a 501(c)(3) organization dedicated to individuals with rare diseases and the organizations that serve them. NORD has over 300 patient organization members and is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. Their database for reports on more than 1,200 diseases is but one of their many member resources.
NORD is having a Rare Diseases + Orphan Products Breakthrough Summit in Washington, DC this month on October 17-18, 2022. As a new member, Carlie Monnier will be attending the conference, representing the NR2F1 Foundation as President of the board of directors. This is an exciting time in the advancement of genetic testing, research, and the development of treatments for rare diseases.
