The Foundation Invests $2.1 Million in Seven New Research Efforts
Scientific Advisory Board (SAB) recently completed its annual grants review
process, leading to the allocation of $2.1 million in funding for seven new
research projects, including those for identifying new disease-causing gene
mutations, developing cross-cutting gene therapies and advancing potential
treatments for dry age-related macular degeneration. The three-year grants were
awarded after the SAB reviewed 117 proposals submitted to the Foundation last
“Grants review is a rigorous, multi-step process that takes most of the year to complete,” says Stephen Rose, Ph.D., chief research officer, Foundation Fighting Blindness. “Due to revenue limitations, we can only fund a fraction of the high-quality projects we’d like to fund. That makes the selection process even more challenging. We had to leave several excellent proposals on the table.”
Here are brief descriptions of the new research projects:
AOSLO: Detecting Retinal Degeneration Before Vision is Lost
The adaptive optics laser scanning ophthalmoscope (AOSLO) is like a powerful microscope that enables retinal researchers to see structural changes in the retina well before vision is lost from a retinal disease. That power can enable researchers to more quickly determine if a treatment is working in a clinical trial. Austin Roorda, Ph.D., of the University of California, Berkeley, is performing studies of AOSLO to correlate changes in the retina (e.g., loss of photoreceptors) with changes in vision.
Enhancing AOSLO for Expanded Clinical Use
Like Dr. Roorda, Stephen Burns, Ph.D., of the University of Indiana, is working with AOSLO to study the correlation between retinal and vision changes. He is also making AOSLO more affordable by using newer camera technology. In addition, he’s employing state-of-the-art computing technologies derived from video games to decrease image-processing times and costs. The new technology will make the imaging process more comfortable for the patient by tolerating more head and eye movement.
Figuring Out Why Severity of Vision Loss Varies for People with XLRP
Researchers have reported for many years that the severity of vision loss for people with X-linked retinitis pigmentosa (XLRP) can vary greatly, even for people within the same family. Stephen Daiger, Ph.D., of the University of Texas Health Science Center at Houston, will be looking at the role of a various biological, genetic and environmental factors in vision-loss variability for those with XLRP. The identification of a significant factor that modulates vision-loss severity — perhaps a protective protein — could lead to a potential treatment.
Finding New Genes Linked to ADRP
Researchers have identified almost two dozen genes linked to autosomal dominant retinitis pigmentosa (adRP), but many are yet to be found. Rui Chen, Ph.D., of Baylor College of Medicine, is on the hunt for those remaining adRP genes. With DNA from 118 adRP families, including 18 families with at least nine affected members, Dr. Chen is well positioned to identify additional genes linked to adRP. Finding the new genes will provide researchers with targets for treatments and cures.
Developing Neuroprotective Gene Therapies to Preserve Vision
John Ash, Ph.D., is developing gene therapies that have the potential to preserve vision in people affected by a broad range of retinal diseases. Unlike corrective gene therapies, which work only for conditions caused by a specific gene, Dr. Ash’s proposed treatments are designed to keep the retina healthy independent of the underlying disease-causing gene. He also believes the proteins delivered by his treatments — PIM-1 and STAT3 — will be less likely to cause damaging inflammatory side effects than some previously investigated neuroprotective proteins.
Targeting Inflammation to Halt AMD
Thanks to previous Foundation-funded genetic studies, researchers have strong evidence that the progression of age-related macular degeneration is associated with an over-active immune system. This ultimately leads to inflammation and cell death in the retinal pigment epithelium (RPE), a layer of cells that provides critical waste and nutritional support to photoreceptors. Loss of the RPE subsequently leads to loss of photoreceptors and vision. Jayakrishna Ambati, M.D., of the University of Kentucky, is developing a gene therapy that preserves the RPE by preventing the harmful sequence of immune-system events.
Boosting Cells’ Energy Supplies to Save Vision in AMD
Based on prior research, Deborah Ferrington, M.D., of the University of Minnesota, believes that mitochondrial dysfunction in the RPE plays a significant role in the development of AMD. Mitochondria are like miniature organs (organelles) within all cells that provide energy. When not working properly in retinal cells, they can lead to cell death and vision loss. Dr. Ferrington is evaluating compounds that help protect mitochondrial function in the RPE.