A Pitt researcher received $2.2M from the Gilbert Family Foundation to combat blindness caused by NF1

The University of Pittsburgh and the Eye and Ear Foundation of Pittsburgh have received a $2,182,900 multiyear grant from the Gilbert Family Foundation to support the organization's Vision Restoration Initiative (VRI), which aims to prevent blindness caused by mutations in the neurofibromatosis type 1 (NF1) gene. The award is part of a broader, multidisciplinary initiative by the Gilbert Family Foundation to advance transformative vision research and foster collaboration among 15 leading research centers.

"The support of VRI has been key in moving forward our efforts to find solutions for this currently incurable disease," said Anantha Shekhar, Pitt's senior vice chancellor for the health sciences and John and Gertrude Petersen Dean of the School of Medicine. "This latest round of funding will allow us to better understand the optic nerve degeneration associated with NF1 and find novel treatments for the debilitating condition."

NF1 is a genetic condition that causes changes in skin pigment and tumors on nerve tissue, including within the eye. It affects an estimated 1 in 2,500 people and can lead to premature death and complications such as blindness.

The Gilbert Family Foundation invited John Ash, E. Ronald Salvitti Chair in Ophthalmology Research at the School of Medicine, to join the VRI as a member of its "Dream Team" of researchers studying NF1 and vision. The funding will also support the work of a recently hired ophthalmology faculty member, Silmara de Lima, who joined the department from Boston Children's Hospital in 2025.

"Dr. de Lima and her mentor and colleague, Larry Benowitz, will combine their research expertise with Dr. Ash to develop novel therapeutic solutions to preserve and restore vision in NF1 patients. Their research is moving the science forward, and the support from the Gilbert Family Foundation will make it possible for us to enhance the Department of Ophthalmology's state-of-the-art facilities, test and validate therapies developed here and elsewhere, and explore new targets," said José-Alain Sahel, Distinguished Professor and Chairman of the Department of Ophthalmology at Pitt's School of Medicine.

"Equally important as the financial support associated with our partnership with VRI is the collaborative environment it creates among some of the best minds in this field, starting right here in Pittsburgh," added Sahel, who also serves as director of the UPMC Vision Institute and Emeritus Exceptional Class Professor at Sorbonne Université in Paris.

[Read more about Sahel's groundbreaking retinal implant.]

The grant calls for Ash's and de Lima's labs to cross-train with the other VRI grantees to develop best practices and standardized procedures for assessing NF1 disease pathology, optic nerve structure and function and genetics of NF1 disease models.

"Curing NF1 requires us to think differently. The disease is complex, but the scientific and translational opportunities in front of us have never been stronger. By merging cutting-edge biomedical and information technologies with a commitment to collaboration across scientific disciplines, we believe transformative breakthroughs are possible," said Laura Grannemann, executive director of the Gilbert Family Foundation. "The Vision Restoration Initiative exemplifies this approach by bringing together leading researchers to tackle one of NF1's most devastating complications. We are committed to producing therapies that restore vision and, ultimately, cure this disease."

Members of the VRI's Dream Team will meet regularly to align, harmonize and standardize established procedures, ensuring consistency across the consortium. Results and best practices will be shared among consortium members and disseminated broadly through presentations at national and international conferences.

"I cannot thank the Gilbert Foundation enough for its support of our work and that of our partner institutions," said Ash. "The Foundation's confidence in our collective ability to identify solutions that restore sight for individuals affected by NF1 is transformative. Progress in individual laboratories can take us only so far, but when all 15 institutions come together to collaborate, share discoveries and build on one another's successes, we can achieve far more and do so much more rapidly for the patients we serve."