The NR2F1 Foundation is making history with the launch of the first BBSOAS Center of Excellence at Cincinnati Children’s Hospital on April 21, 2023. The BBSOAS Center of Excellence, led by Dr. Veeral Shah and his team, is a major milestone for the NR2F1 Foundation and our community!
Individuals with BBSOAS will be invited to Cincinnati Children’s Hospital at regular intervals for a comprehensive physical and visual assessment including neuro-ophthalmic evaluation of optic nerves, CVI severity testing, and MRI of the anterior and posterior visual pathways recently observed to be anatomically affected in patients with CVI.
What is a Center of Excellence?
Definitive Healthcare defines a center of excellence as “a hospital or healthcare facility where patients continually return to receive primary care or treatment for acute conditions, separate from the place of diagnosis.” Centers of Excellence link clinicians and others to share knowledge and best practices, advance diagnostic and treatment tools and methods, and improve patient care.
Centers of Excellence link clinicians and others to share knowledge and best practices, advance diagnostic and treatment tools and methods, and improve patient care.
According to Global Genes, Allies in Rare Diseases, “Centers of excellence are valued by rare disease patients because of the complexity of their conditions and the need many of these patients face to seek treatment from a variety of different specialists. Centers of excellence provide an opportunity for coordinated care among a group of specialists, allow for easier access to these specialists, and connect patients and their families to others with the same disease.”
The Center of Excellence impact on research
Dr. Veeral Shah, a pediatric neuro-ophthalmologist, will direct the multi-disciplinary BBSOAS Center of Excellence (COE), which will initially include 3 BBSOAS patients. The team will include Terry L. Schwartz, MD, a pediatric ophthalmologist, Karen L. Harpster, PhD, OTR/L, an occupational therapist III, and Melissa Rice, OD, FAAO, a pediatric optometrist.
Patients will be studied longitudinally with a 1-, 3-, and 5-year follow-up, and additional assessments will be performed using validated measures for neurodevelopmental disorders, as well as patient-reported outcome measures through collaboration with the NR2F1 Foundation and the NR2F1 Patient Registry in Across Healthcare Matrix.
As an ultra-rare disorder, we are incredibly fortunate to have the perfect combination of expertise within one medical institution. Dr. Veeral Shah, who has been a trusted Scientific Advisor to the NR2F1 Foundation since its inception and sits on our Scientific Advisory Board, is able to provide insights on our patients as both a pediatric neuro-ophthalmologist and also an authority in Cerebral Visual Impairment (CVI).
This COE, in collaboration with Dr. Shah’s colleagues at Cincinnati Children’s Hospital, will enhance our capacity to further research into the impact of the NR2F1 gene and give us a methodical approach to gathering natural history data.
BBSOAS Center of Excellence Goal
With the goal of finding viable treatments for our patients, one of the challenges we now face is the absence of a validated outcome measure for CVI. For our patients and their caregivers, vision is crucial to learning and daily life. This affects not just BBSOAS but also a much larger population of neurodevelopmental disorders. The COE will offer the ideal coalition of physicians and patients to study and develop this outcome measure.
Dr. Veeral Shah, MD, PH.D.
Dr. Shah is a Pediatric Neuro Ophthalmologist in the Division of Pediatric Ophthalmology at Cincinnati Children’s Hospital Medical Center. He is also an Assistant Professor at the UC Department of Ophthalmology.
Dr. Shah is a pediatric and adult neuro-ophthalmologist with clinical interests that include demyelinating diseases, nystagmus, eye movement abnormalities, cranial nerve palsies, optic nerve hypoplasia, craniofacial diseases, intracranial tumors, optic neuropathy, complex strabismus, and ocular genetics/electrophysiology.
Dr. Shah said, “We’re excited to start a BBSOAS (NR2F1) Center of Excellence at Cincinnati Children’s Medical Center! Our goal is to provide holistic and personalized medical care to BBSOAS children and youths afflicted with neuro-ophthalmology and vision development conditions through superior care coordination, translational cutting-edge resources, and pioneering scientific discovery.”
Carlie is the President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.
