Published April 8, 2013
This year's $110,000 grant brings the total awarded to $790,000.
Primarily, the grant helps fund laboratory-based and clinical
research exploring vision processes and disease.
For example, a study led by Jack
M. Sullivan, MD, PhD, clinical associate professor, is seeking
novel approaches to gene therapies to correct retinitis pigmentosa,
a progressive, hereditary blinding disorder.
P. Patel, MD, PhD, research assistant professor, is leading
research on molecular mechanisms that regulate hydration of the
cornea, a process important to maintain a healthy, transparent
covering over the eye. Her lab is investigating the transport of
water across the corneal endothelium, the innermost layer of the
cornea, isolating the contributions and regulation of various ionic
This research could lead to the first non-surgical treatment for edema of the cornea, a condition that can cause vision loss.
The 2013 grant also will support extensions of 2012 projects, which resulted in 11 published papers and encompassed three major areas of study, described below.
In 2012, UB researchers produced the first three-dimensional, X-ray structure of the interphotoreceptor retinoid-binding protein (IRBP), shedding light on its function in the vision cycle, health and disease.
The protein, secreted by light-detecting photoreceptors on the retina, shuttles vitamin A-related and other lipid-soluble molecules between the neural retina and the retinal pigment epithelium.
Researchers believe that mutations in the protein's chemical binding site―definitively established for the first time by the X-ray structure―can disrupt the protein’s transport function.
This disruption may cause a recessive form of retinitis pigmentosa, a group of hereditary diseases that results in severe vision loss.
Using genetically modified mice, UB researchers studied Onecut
1, a transcription factor or protein that helps control the
expression of genes in the retina.
Their experiments showed that Onecut 1 plays a crucial role in the formation of horizontal cells, laterally interconnected neurons in the retina that allow eyes to adjust to different light conditions, among other functions.
The research also revealed previously unknown and unexpected roles for Onecut 1: it helps preserve retinal integrity as well as the survival of photoreceptor cells.
Another area of research may lead to a new therapy for Smith-Lemli-Opitz syndrome (SLOS), a hereditary disorder of cholesterol metabolism that leads to cholesterol deficiency and also, in part, to retinal dysfunction and degeneration.
The syndrome is marked by the abnormal accumulation of 7-dehydrocholesterol (7DHC), an immediate chemical precursor of cholesterol.
Using in vivo models, UB researchers found that oxidized forms of 7DHC, which are degradation products of the sterol, may cause degeneration of the retina. The researchers believe that blocking oxysterol formation with antioxidants may provide a better therapy for SLOS, when combined with conventional cholesterol supplementation therapy.
In addition to research, the grant will continue to support the department’s Distinguished Lectures in Vision Science series, which brings some of the world’s most prominent vision scientists to UB to discuss their research.
A portion of the funds also will allow department clinicians and scientists to travel to biomedical conferences to present research results.
“I’m extremely excited about the research coming out
of the department and the Vision Research Center housed at the
Buffalo VA Medical Center, and I’m very proud of our faculty
who are generating these discoveries,” says Steven
J. Fliesler, PhD, Meyer H. Riwchun Endowed Chair Professor
and a research health scientist at the Buffalo VA.
“I look forward to the day when these research results will be translated into clinical therapies and cures that will improve or restore vision for those with visual disabilities, and prevent vision loss for those who otherwise might suffer from progressive blinding disorders.”
As in previous years, James D. Reynolds, MD, professor and chair of the department, is the grant’s principal investigator. As the department's vice chair and director of research, Fliesler will help coordinate investigations that faculty conduct under the grant.