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Foundation Fighting Blindness funding nine new research projects

The Foundation Fighting Blindness announces nearly $3 Million in funding for nine new research projects to save and restore sight

Latest investments feed into more than $6 million that's been pumped into the research pipeline this year.

The Foundation Fighting Blindness, the world's largest private funder of research into preventions, treatments and cures for inherited retinal degenerative diseases, announces nearly $3 million in funding for nine promising research projects aimed at saving and restoring sight. These investments feed into more than $6 million that the Foundation has pumped into the research pipeline since March of this year, including six additional awards for its Translational Research Acceleration Program.

The Foundation's Scientific Advisory Board completed its annual grants review process, leading to the allocation of seven new $300,000, three-year grants totaling $2.1 million that will focus on identifying new disease-causing gene mutations, developing cross-cutting gene therapies and advancing potential treatments for dry age-related macular degeneration, among other projects. Another $800,000 was awarded to two research efforts at the University of California, Berkley, focused on optogenetic approaches to treat blinding inherited retinal diseases. Optogenetics is a relatively new field of research, which involves the delivery of genes or chemicals to restore light sensitivity to a highly degenerated retina. In essence, this type of treatment holds promise for restoring vision in people with advanced disease, and may do so regardless of the genetic defect causing the disease.

"Retinal diseases together affect more than 10 million Americans, and with an aging population this number is growing. Through the Foundation's retinal disease research investments, we are seeing cutting-edge initiatives with vision-saving potential," said Dr. Stephen Rose, the Foundation's chief research officer, of the newly funded projects. "The progress being made in research right now is remarkable; however there is still a long way to go to secure the resources to significantly expand the portfolio of trials across the spectrum of retinal diseases. We had to leave several excellent proposals on the table."

Descriptions of the Seven New Grants Awarded through the SAB’s Annual Review Process

Austin Roorda, Ph.D., the University of California, Berkeley

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. Dr. Roorda is performing studies of AOSLO to correlate changes in the retina (e.g., loss of photoreceptors) with changes in vision.

Stephen Burns, Ph.D., Indiana University

Enhancing AOSLO for Expanded Clinical Use
Dr. Burns is also working with AOSLO to study the correlation between retinal and vision changes. He is making AOSLO more affordable by using newer camera technology and 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.

Stephen Daiger, Ph.D., the University of Texas Health Science Center in Houston

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. Dr. Daiger will be looking at the role of 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.

Rui Chen, Ph.D., Baylor College of Medicine

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. Dr. Chen 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.

John Ash, Ph.D., the University of Florida

Developing Neuroprotective Gene Therapies to Preserve Vision
Dr. Ash is developing gene therapies that have potential to preserve vision in people affected by a broad range of retinal diseases. Unlike corrective gene therapies that work only for conditions caused by a specific gene, Dr. Ash's proposed treatments are designed to keep the retina healthy independent from 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.

Jayakrishna Ambati, M.D., the University of Kentucky

Targeting Inflammation to Halt AMD
Thanks to previous Foundation Fighting Blindness-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. Dr. Ambati is developing a gene therapy that preserves the RPE by preventing the harmful sequence of immune-system events.

Deborah Ferrington, M.D., the University of Minnesota

Boosting Cells' Energy Supplies to Save Vision in AMD
Based on prior research, Dr. Ferrington believes that mitochondrial dysfunction in the RPE plays a significant role in the development of AMD. Mitochondria are like miniature organs (organelles) within 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.

Descriptions of the Two New Grants Awarded for Optogenetics Research

John Flannery, Ph.D., the University of California, Berkeley

Dr. Flannery is developing an optogenetic gene therapy for bipolar cells in the retina, which survive for many people with significant retinal degeneration. Given these cells’ adjacency to photoreceptors, he believes bipolar cells have the potential to provide meaningful vision when treated with an optogenetic therapy. He’ll be testing the effectiveness of four gene therapies, each delivering a different light-sensing protein to bipolar cells.

Richard Kramer, Ph.D., the University of California, Berkeley

Dr. Kramer will study variations of a synthetic compound called AAQ as an optogenetic treatment in ganglion cells. Previous studies showed that injections of AAQ restored vision in mice, but only in very bright light. Dr. Kramer will be engineering compounds to work in dimmer light. And, because injections of AAQ have worked only temporarily, Dr. Kramer will be evaluating microspheres, small biodegradable particles, to provide sustained release of the compounds.

About Foundation Fighting Blindness

The Foundation Fighting Blindness is a national non-profit organization driving the research that will lead to preventions, treatments and cures for retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases that affects more than 10 million Americans. Since 1971, the Foundation has raised more than $500 million as the leading non-governmental funder of inherited retinal research. Breakthrough Foundation-funded studies using gene therapy have restored significant vision in children and young adults who were previously blind, paving the way for additional clinical trials to treat a variety of retinal degenerative diseases. With a coveted four-star rating from Charity Navigator, the Foundation also has nearly 50 chapters that provide support, information and resources to affected individuals and their families in communities across the country.

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