General Science Archives | 06 June 2017

FFB Announces $6M in New Funding for Inherited Retinal Disease Research

The Foundation Fighting Blindness (FFB) today announced $6 million in new research funding across a spectrum of potential preventions, treatments and cures for inherited retinal diseases including retinitis pigmentosa and macular degeneration.  With this new funding, FFB now supports 101 research projects conducted by over 150 investigators at 61 institutions worldwide.

“FFB is very pleased to announce the grantees for this year’s research funding,” said Stephen Rose, PhD, FFB’s chief research officer.  Funding scientifically sound and innovative research is central to our mission to find treatments and cures for inherited retinal diseases.  Importantly, the awards to young clinician-scientists include mentoring and expert guidance from leaders in the established vision science community to move investigations and discoveries forward and ensure that the most promising enter clinical trials,” Rose said.

FFB research awards provide support within four major grant programs: the Alan Laties Career Development Award Program including the Howard Hughes Medical Institute-FFB Medical Fellows Program and the Diana Davis Spencer Clinical Research Fellowship program; the FFB Individual Investigator Research Awards program, FFB Project Awards program; and the Gund-Harrington Scholar Awards.

Alan Laties Career Development Award Program

Howard Hughes Medical Institute-FFB-Medical Fellows Program

Michelle Chung, Harvard Medical School: Understanding the Role of the RPE in Protecting the Outer Retina from Photoreceptor Loss. A layer of cells called the retinal pigment epithelium (RPE) plays a critical support role for photoreceptors, and often degenerate from inherited retinal disease. Ms. Chung is gaining a better understanding of the degree to which RPE death accelerates photoreceptor death and, conversely, how much photoreceptor death contributes to RPE loss.

Kevin Rolnick, University of Washington: Effects of the Chemical Photoswitch Known as DAD in a Rabbit Model of Retinal Degeneration. Chemicals known as photoswitches have the potential to restore light sensitivity to retinas that, due to retinal diseases, have lost their ability to process light and provide vision. Mr. Rolncik is investigating the photoswitch diethylamino-azo-diethylamion (DAD) for restoring vision in a rabbit model.

Marta Stevanovic, Keck School of Medicine, University of Southern California: HLA-Expressing Pluripotent Stem Cells as a Source of RPE to Treat AMD. Retinal pigment epithelial (RPE) cells, which play a critical support role for photoreceptors, are the first cells to degenerate in age-related macular degeneration (AMD). Ms. Stevanovic is investigating the potential for universal stem cells to be developed into an RPE cell therapy for those with AMD. Universal stem cells are engineered to minimize a deleterious reaction from the recipient’s immune system.

Diana Davis Spencer Clinical Research Fellowship Award

Rola Baabbad, MD, University College London: Reverse Phenotyping of Biallelic Loss of Function Variants in a Large Cohort of Families with Inherited Retinal Dystrophy. Mutations in retinal-disease genes that lead to complete loss of protein production are known as “loss of function” (LoF) mutations. Dr. Baabbad’s study is helping researchers better understand the variability and severity of LoF mutations to identify therapeutic opportunities and potential modifying factors of disease severity.

Florian Grigorian, MD, Oregon Health Science University: Wide Field OCT Angiography in Patients with RP. Dr. Grigorian is using a retinal-imaging technology known as optical coherence tomography (OCT) angiography to gain a better understanding of how changes in retinal vasculature correlate with degeneration of retinal cells in people with retinitis pigmentosa (RP). 

FFB Individual Investigator Research Awards

Qin Liu, M.D., PhD, Massachusetts Eye and Ear Infirmary: Development of CRISPR/Cas9-based Genome Editing Approaches for RP1-Associated Autosomal Dominant RP. Mutations in the gene RP1 are a leading cause of autosomal dominant retinitis pigmentosa (RP). Dr. Liu is developing a gene-editing therapy, using CRISPR/Cas9 technology, to address a relatively common RP-associated mutation in RP1. 

Sylvia Smith, PhD, Augusta University: Targeting Sigma 1 Receptor in RP. In prior lab studies, Dr. Smith showed that a drug targeting the sigma 1 receptor rescues cones in a mouse model of retinitis pigmentosa (RP). She is continuing her study of this therapeutic pathway in additional RP models to better understand how the pathway works, and identify the optimal approach for targeting the sigma 1 receptor in humans.

Douglas Vollrath, MD, PhD, Stanford University: TYRO3 as a Modifier of MERTK-associated Photoreceptor Degeneration. Dr. Vollrath and his collaborators have evidence that the gene TYRO3 can modify disease severity in retinitis pigmentosa (RP) caused by mutations in the gene MERTK. His research is now advancing the understanding of TYRO3 and its potential as a therapeutic target to save vision. 

David Williams, PhD., Regents of the University of California, Los Angeles: Gene Editing of the Usher 1B Gene. Dr. Williams is using an innovative gene-editing technique called CRISPR/Cas9 for correcting a mutation in the gene MYO7A, which causes Usher syndrome type 1B. MYO7A is a large gene, making it difficult to replace with conventional (viral) gene replacement therapy.

David Zacks, MD, PhD, Regents of the University of Michigan: Modulating Autophagy Flux — A Novel Mechanism for Treatment of ADRP Secondary to Rhodopsin Misfolding Mutations. Dr. Zacks and his colleagues are investigating how a misfolded rhodopsin protein impairs autophagy — a natural disposal process for un-needed cellular materials. Disruption of autophagy leads to photoreceptor death and vision loss.

Thomas Reh, PhD, University of Washington: Identification of Factors that Stimulate Retinal Regeneration. Dr. Reh is investigating the factors that can stimulate Muller glial cells to generate into photoreceptors for vision restoration in retinas affected by inherited diseases such as retinitis pigmentosa.

FFB Program Project Awards

Frans Cremers, PhD, Radboud University Medical Center: Splice Modulation to Treat Retinal Diseases. Dr. Cremers is leading a team of scientists to investigate defects in messenger RNA (mRNA) that can lead to inherited retinal disease, and potential therapeutic approaches, such as antisense oligonucleotides, to correct mRNA defects.

Jacque Duncan, MD, University of California, San Francisco, and Joe Carroll, PhD, Medical College of Wisconsin: Characterization of Existing and Newly Developed Models of Usher Syndrome. Drs. Duncan and Carroll are leading a multi-discipline team of scientists to develop and investigate models of Usher syndrome to identify those that can be used to more effectively evaluate therapies for humans with the condition. 

Ronald Roepman, PhD, Nijmegen University Medical Center: Targeting Proteostasis and Protein Quality Control in Photoreceptors. Dr. Roepman and his colleagues are studying the proteostasis network in photoreceptors to better understand the activities and interactions of proteins, and how imbalances in proteostasis lead to photoreceptor degeneration.

Gund-Harrington Scholar Awards

The Gund-Harrington Scholar Awards are part of an FFB - Harrington Discovery Institute collaboration to advance discoveries of new medicines.

The 2017 Gund-Harrington Scholars are:

Shannon Boye, PhD, University of Florida: Dual Vector Gene Therapy Development. Dr. Boye is developing a dual vector gene therapy for Usher syndrome type 1B, which is caused by mutations in the gene MYO7A. Dual vectors are needed, because most existing gene delivery systems don’t have the capacity for large genes such as MYO7A.

Thomas Reh, PhD, University of Washington: Developing a Drug that Changes Identity of Rods to Preserve Vision. Dr. Reh is developing an oral drug that will give rods a more cone-like identity. Because many forms of retinitis pigmentosa originate in rods, Dr. Reh believes he can slow degeneration by converting rods into cone-like photoreceptors.

Shigemi Matsuyama, PhD, Case Western Reserve University: Identifying and Developing Molecules to Prevent Photoreceptor Death. Dr. Matsuyama is screening molecules to identify those that can prevent retinal cell death and potentially treat a wide range of retinal degenerative diseases. 

Richard Kramer, PhD, University of California, Berkeley. Refining a Photoswitch Drug Candidate for the Treatment of Retinitis Pigmentosa. Dr. Kramer has identified a potential drug that can restore light sensitivity to a retina which has lost all of its photoreceptors. His goal is to develop an optimal formulation of the molecule and identify an optical imaging technology to more accurately measure the drug’s efficacy.

“The early and bridging role that FFB funding plays in supporting research on the best theories about how to prevent and treat retinal degenerations to be studied is pivotal to the search for cures,” said FFB’s Rose.  “The tremendous progress such research has made is demonstrated in the fact that the field has grown from no clinical trials on possible treatments to 20 such ongoing trials and a significant number more in the pipeline.  We are confident that this year’s stalwart group of grantees will continue to drive this research forward.”

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