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Funded Grants and Awards for Fiscal Year 2018 (July 1, 2017-June 30, 2018)
ALAN LATIES CAREER DEVELOPMENT AWARD PROGRAM
Howard Hughes Medical Institute Fellowship Award
Rolnick, Kevin
University of Washington
“Effects of the chemical photoswitch known as DAD in a rabbit model of retinal degeneration”
$43,000
Mr. Rolnick is investigating the photoswitch diethylamino-azo-diethylamion (DAD) for restoring vision in a rabbit model of retinal disease.
Stevanovic, Marta
University of Southern California
“HLA-expressing pluripotent stem cells as a source of RPE to treat AMD”
$43,000
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 Fellowship Awards
Ba-Abbad, Rola
Moorfields Eye Hospital / University College London
“Reverse phenotyping of biallelic loss of function variants in a large cohort of families with inherited retinal dystrophy”
$65,000
Dr. Ba-Abbad is studying the extent of retinal dysfunction and degeneration as well as rate of disease progression in the patients with two mutations in both copies of the same gene.
Grigorian, Florin
Oregon Health & Science University
“Wide Field OCT Angiography in Patients with Retinitis Pigmentosa”
$43,333
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).
Career Development Award
Chavala, Sai
University of North Carolina at Chapel Hill
“In Vivo Reprogramming Strategies for Retinal Degeneration”
$75,000
Dr. Chavala is developing methods to reprogram cells into stem cell-like while they are in the eye, eliminating the need for cell transplantation for stem cell therapy.
Matsui-Serrano, Rodrigo
Ophthalmological Institute CONVAL
“Clinical and Molecular characterization of Mexican patients with inherited retinal degenerations”
$75,000
Dr. Matsui-Serrano is increasing the knowledge about people in Mexico with inherited retinal diseases through state-of-the-art genetic tests, and analyses of retinal function and structure. He is creating a registry of people who may be eligible for clinical trials of emerging therapies taking place around the world.
Elizabeth Anderson Career Development Award
Simunovic, Matthew
University of Sydney
“Structure, Function, Gene Therapy and Surgery in Retinal Dystrophies”
$75,000
Dr. Simunovic is identifying and characterizing patients from Australia with inherited retinal diseases — including those with choroideremia, X-linked retinitis pigmentosa, and achromatopsia — for participation in Phase II/III clinical trials for gene therapies taking place in Europe and the United States.
Vincent, Ajoy
Hospital for Sick Children
“Genetics of Hereditary Macular Dystrophies”
$75,000
Dr. Vincent and his colleagues are using next-generation screening technologies and conducting functional studies to identify new genetic mutations associated with macular dystrophies, inherited retinal conditions that cause central vision loss. Identifying the new mutations will enable researchers to diagnose more patients and find targets for therapy development.
Yang, Paul
Oregon Health & Science University
“Neuroprotective Mechanisms of Mycophenolate Mofetil in Retinitis Pigmentosa”
$75,000
Dr. Yang is receiving a career development award to evaluate two FDA-approved neuroprotective drugs — mycophenolate mofetil and methotrexate — in a mouse model of retinitis pigmentosa caused by PDE6B mutations.
Ted and Elaine Welp Enhanced Career Development Award
Comander, Jason
Massachusetts Eye and Ear Infirmary
“Improving Diagnosis of Retinitis Pigmentosa by Efficient Characterization of Potentially Pathogenic DNA Variants”
$170,000
Dr. Comander is conducting studies to identify mutations in the gene rhodopsin that cause retinitis pigmentosa. His primary goal is to gain a better understanding of which variants in rhodopsin lead to vision loss. His work will also help him and other researchers create disease models for investigating causes and potential therapies for vision loss from rhodopsin mutations.
INDIVIDUAL INVESTIGATOR RESEARCH AWARD PROGRAM
Cellular Molecular Mechanism of Disease
Neuringer, Martha
Oregon Health & Science University
“Nonhuman Primate Model of Usher Syndrome”
$99,722
Dr. Neuringer and her colleagues are using the gene-editing technique CRISPR/Cas9 to develop a large animal model of Usher type 1B, which is caused by mutations in the gene MYO7A. She believes that these animals will exhibit vision loss and will therefore be useful for testing potential Usher 1B therapies.
Zacks, David
University of Michigan
“Modulating Autophagy Flux: A Novel Mechanism for Treatment of ADRP Secondary to Rhodopsin Misfolding Mutations”
$99,973
Dr. Zacks and his colleagues are investigating how a misfolded rhodopsin protein impairs autophagy — a natural degradation process for un-needed cellular materials. Disruption of autophagy leads to photoreceptor death and vision loss.
Clinical: Structure and Function Relationships
Farsiu, Sina
Duke University
“Automated Software for Analysis of Adaptive Optics Scanning Laser Ophthalmoscopy Images”
$99,999
Dr. Farsiu’s goal is to develop and freely distribute software that efficiently and effectively analyzes the enormous amount of data generated by the advanced retinal imaging system known as the adaptive optics scanning laser ophthalmoscope (AOSLO). This automated tool will help researchers and doctors around the world provide quicker and more accurate diagnoses for patients and better detect vision changes for participants in clinical trials of emerging therapies.
Gene Therapy
Byrne, Leah
University of Pittsburgh
“High throughput development of cell-specific AAV variants and promoters on a single cell level”
$100,000
Dr. Byrne is creating a toolbox of efficient and specific viral capsids and promoters for every retinal cell type, and make it available to the research community, thereby enhancing and expediting gene-therapy development for retinal diseases.
Liu, Qin
Massachusetts Eye and Ear Infirmary
“Development of CRISPR/Cas9-based genome editing approaches for RP1 associated autosomal dominant retinitis pigmentosa”
$100,000
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 shut down a relatively common RP-associated mutation in RP1.
Wijnholds, Jan
Leiden University
“Advance Gene Therapy Research for CRB1-related RDDs”
$100,000
Dr. Wijnholds is conducting preclinical studies of gene therapy for CRB1-related retinal degeneration (both RP and LCA)
Williams, David
University of California, Los Angeles
“Gene Editing of the Usher 1B gene”
$100,000
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.
Genetics
Small, Kent
Molecular Insight Research Foundation
“North Carolina Macular Dystrophy (NCMD): Finding All of the Mutations”
$100,000
Dr. Small is aiming at a better clinical and genetic characterization of NCMD. This study follows his reporting of gene mutations with unusual disease mechanism and understanding the underlying mutations may contribute to understanding other inherited retinal diseases
Vollrath, Douglas
Stanford University
“TYRO3 as a modifier of MERTK-associated photoreceptor degeneration”
$100,000
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.
Novel Medical Therapy
Ash, John
University of Florida
“Developing AAV vectors for drug-regulated expression of neuroprotective factors to induce broad spectrum protection of photoreceptors and RPE”
$100,000
Dr. Ash is developing human-engineered viruses to allow regulation of the expression of disease-slowing, vision-saving proteins to the retinas of people with a variety of inherited retinal degenerations.
Banfi, Sandro
Fondazione Telethon
“MicroRNA miR-204, a new potential therapeutic tool for inherited retinal dystrophies”
$100,000
Dr. Banfi is investigating micro-RNAs — part of a gene’s messaging system — in both small and large animal models as a potential tool toward therapy for inherited retinal diseases. His goal is to alter the mutated gene’s activity to slow or halt vision loss.
Bernstein, Paul S.
University of Utah
“VLC-PUFA Therapeutics for Dry AMD and Dominant Stargardt Disease (STGD3)”
$100,000
Dr. Bernstein is working with lipid chemistry specialists at the University of Utah to develop potential VLC-PUFAs treatments to be tested in the lab. Earlier studies suggest that VLC-PUFAs may also be beneficial to people with dry age-related macular degeneration.
Lipinski, Daniel
Medical College of Wisconsin
“Maintaining proteostasis to prevent photoreceptor degeneration in retinal disease”
$100,000
Dr. Lipinski is developing a gene therapy to prevent the degradation of proteins that leads to the death of cones, the photoreceptors that provide central vision, vision in lighted conditions, and the ability to read and drive. Such a treatment has the potential to help people with retinitis pigmentosa, Leber congenital amaurosis, and Usher syndrome by working independent of the patient’s gene mutation.
Smith, Sylvia
Augusta University
“Targeting Sigma 1 Receptor in Retinitis Pigmentosa”
$100,000
In prior lab studies, Dr. Smith has shown 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.
Tsang, Stephen H
Columbia University
“Gene Editing to Repair Mutations in adRP”
Dr. Tsang's research will evaluate the therapeutic potential of gene-editing of a Rhodopsin mutation to restore vision in adRP with this specific mutation
Zack, Donald J.
Johns Hopkins University
“Development of AAV Vector-mediated CRISPR/Cas9 Gene Editing for the Treatment of ADRP”
$100,000
Dr. Zack's overall goal of this study is to use a gene editing tool in animal models of autosomal dominant RP to specifically alter the mutated copy of the disease-causing gene so that it does not express its toxic gene product, while not affecting expression of the WT gene.
Regenerative Medicine
Gamm, David
University of Wisconsin, Madison
“Production and Characterization of Patient-Specific iPS Cell Modules of Best Disease for Therapeutic Testing”
$61,440
Dr. Gamm is developing human induced-pluripotent stem cells lines of BEST Disease to test several drugs for therapeutic potential
Reh, Thomas
University of Washington
“Reprogramming Muller Glial Cells with Ascli to Regenerate Adult Mouse Retina”
$98,767
Dr. Reh is conducting lab studies to determine how photoreceptors can be regenerated from Muller glial — a process, if perfected in humans, could restore vision lost to advanced diseases such as retinitis pigmentosa.
Singh, Ruchira
University of Rochester
“Engineering a human model of outer blood retinal barrier-vascular complex from hiPSCs”
$99,777
Dr. Singh is using human induced pluripotent stem cells — stem cells derived from a person’s skin or blood — to create a layer of retinal vascular tissue known as the blood-retina barrier complex. This tissue is enabling her to study the onset of retinal disease in a human model, explore drug-delivery approaches, and investigate transplantation therapies for people with retinal diseases such as age-related macular degeneration.
TRANSLATIONAL RESEARCH ACCELERATION PROGRAM
Gund Harrington Initiative for Fighting Blindness
Kramer, Richard
University of California, Berkeley
“Assessing in vivo functional restoration of retinal light responses by BENAQ, a photoswitch drug candidate for retinitis pigmentosa”
$90,000
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.
La Spada, Albert
University of California, San Diego
“Development of Oligonucleotide Rx for Knock-down of a Toxic Disease Protein in Spinocerebellar Ataxia Type 7 Retinal Degeneration”
Dr. La Spada's overall goal is to create a gene knockdown therapy development path (to reduce the expression of a chosen protein) for ANY retinal disease that results from the production of a toxic protein, including certain forms of macular degeneration.
Gund Harrington Scholar
Matsuyama, Shigemi
Case Western Reserve University
“High Throughput Screening (HTS) of Cyto-protective Small Molecules Protecting Retinal Cells from Bax and Bak”
$90,000
Dr. Matsuyama is screening molecules to identify those that can inhibit retinal cell death and potentially treat a wide range of retinal degenerative diseases.
Petrukhin, Konstantin
Columbia University
“Pharmacological treatments for Stargardt disease”
$369,235
Dr. Petrukhin' s overall goal of this project is to develop a small molecule therapy that reduces the accumulation of toxic lipofuscin byproducts to benefit patients with Stargardt disease
Gund Harrington Scholar
Reh, Thomas
University of Washington
“Identification of factors that stimulate retinal regeneration”
$90,000
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.
Translational Research Acceleration Projects
Flannery, John
University of California, Berkeley
“Development of Optogenetic Tools with Increased Light Sensitivity for Vision Restoration”
$115,691
Dr. Flannery is expressing a light-sensitive protein receptor in retinal bipolar cells to confer light perception to the brain in the absence of photoreceptors
Guziewicz, Karina E.
University of Pennsylvania
“AAV-Mediated Therapy for Best Vitelliform Macular Dystrophy”
$758,533
Dr. Karina Guziewicz is collaborating with Drs. David Gamm and Bill Hauswirth to conduct continuing preclinical studies to move gene therapy for autosomal recessive Bestrophin-1 caused maculopathy (BEST Disease) toward the clinic.
Kramer, Richard
University of California, Berkeley
“Development of Small Molecule Photoswitch Approach for Restoring Visual Function in Retinitis Pigmentosa”
$68,699
Dr. Kramer's project is developing photoswitch molecules as a potential therapy for restoring vision in RP patients. By developing a simple photosensitive drug for restoring light-sensitivity, they are essentially proposing a therapy that is not gene specific.
Gund Harrington Scholar
Mumm, Jeff
Johns Hopkins University
$109,814
“Novel Drug Discovery Platform for Identifying Compounds Promoting Rod Photoreceptor Survival”
Dr. Mumm is screening libraries of thousands of drugs, some of which are already FDA-approved for other conditions, to determine if they save vision. He is using zebrafish for the screening to gain a good initial sense of the drugs’ vision-saving potentials.
Pierce, Eric
Massachusetts Eye and Ear Infirmary
“Efficacy, Safety, and Toxicity of AAV-Mediated Human RPGRIP1 Replacement
Gene Therapy in Mice and Non-Human Primates”
$316,978
Dr. Pierce is conducting lab studies in preparation for a clinical trial of a gene therapy based on an adeno-associated virus for people with Leber congenital amaurosis caused by mutations in RPGRIP1.
Sahel, Jose-Alain
Pierre and Marie Curie University
“Restoration of Visual Function through Cone Reactivation”
$310,695
Dr. Sahel is developing an optogenetic gene therapy based on an adeno-associated virus to reactive cones in people with advanced retinal degeneration from conditions such as retinitis pigmentosa. His goal is to launch a clinical trial of the emerging treatment.
PROGRAM PROJECT AWARD/RESEARCH CENTER PROGRAM
Cremers, Frans
Radboud University Nijmegen Medical Center
“Splice modulation to treat inherited retinal diseases”
$499,793
Dr. Cremers is leading a team of scientists to investigatie defects in messenger RNA (mRNA) that can lead to inherited retinal disease, and potential therapeutic approaches, such as antisense oligonucleotides, to correct mRNA defects.
Duncan, Jacque
University of California, San Francisco
“Characterization of existing and newly developed models of Usher Syndrome”
$498,174
Drs. Duncan and Carroll are leading a multi-discipline team of scientist 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. Retinal degeneration is subtle in most current Usher syndrome models
Roepman, Ronald
Radboud University Nijmegen Medical Center
“Targeting proteostasis and protein quality control in photoreceptors towards therapeutic intervention”
$360,583
Dr. Roepman and his colleagues have teamed together to study the proteostasis network in photoreceptors to better understand the activities and interactions of proteins, and how imbalances in proteostasis that lead to photoreceptor degeneration.
Berman-Gund Laboratory for the Study of Retinal Degenerations
Pierce, Eric
Massachusetts Eye and Ear Infirmary
“Clinical Research Studies of Retinitis Pigmentosa & Allied Diseases”
$180,000
Module I: Dr. Pierce is conducting clinical studies to: 1) determine if reduced levels of vitamin A supplementation are beneficial to children, 2) better understand the disease course in Usher syndrome type 1, and 3) determine if genetic mutation influences the response to vitamin A supplementation in adults with RP.
Pierce, Eric
Massachusetts Eye and Ear Infirmary
“Molecular Genetic Studies for Retinitis Pigmentosa & Allied Diseases”
$140,000
Module II: Dr. Pierce is studying the genetic profiles of patients with inherited retinal diseases. One of his primary aims is to identify new genes associated with the conditions.
Vandenberghe, Luk
Massachusetts Eye and Ear Infirmary
“Gene Therapies for Animal Models of Retinitis Pigmentosa & Allied Diseases”
$180,000
Module III: This module is developing gene therapies based on adeno-associated viruses for retinitis pigmentosa caused by Usher syndrome with mutations in USHIC and USH2A mutations.
Children’s Hospital of Pennsylvania for the Study of Pediatric Onset Inherited Retinal Degenerations
Bennett, Jean
University of Pennsylvania
“Development of gene therapies for early onset, severe retinal degeneration”
$100,000
Module II: Dr. Bennett is performing preclinical studies of gene and small molecule therapies for people with Leber congenital amaurosis (CEP290 and lebercillin mutations) and Stargardt disease (ABCA4 mutations).
Maguire, Albert
University of Pennsylvania
“Clinical Characterization and Treatment of Pediatric Retinal Degenerations”
$100,000
Dr. Maguire and his colleagues are investigating the correlation between the genetic and clinical profiles of children with retinal disease. He will also be establishing the infrastructure for clinical trials of gene therapies based on adeno-associated viruses for people with Leber congenital amaurosis (CEP290 and lebercillin mutations) and/or Stargardt disease (ABCA4 mutations).
Morgan, Jessica
University of Pennsylvania
“Non-invasive, High Resolution imaging of Pediatric Retinal Degenerations”
$100,000
Dr. Morgan is investigating the degeneration of the retina and visual cortex in patients with inherited retinal degenerative diseases using high-resolution imaging techniques such as adaptive optics scanning laser ophthalmoscopy (AOSLO) and functional magnetic resonance imaging (fMRI).
Mills, Jason
University of Pennsylvania
“Research core for the development of induced pluripotent stem cell (iPSC) models for pediatric onset inherited retinal degenerations”
$100,000
Dr. Mills is using induced pluripotent stem cells to create patient-specific disease models for Leber congenital amaurosis (lebercillin and CEP290 mutations). The models will be used to test potential therapies.
Penn Large Animal Model Translational and Research Center
Aguirre, Gus
University of Pennsylvania
“Identification, Development and Molecular/Cellular Studies of New and Established Canine RD Models”
$175,000
Dr. Aguirre is identifying new canine models of retinal degeneration. He is also conducting genetic and molecular studies to better understand the conditions in new and existing disease models, His findings will help identify and validate potential targets for treatments.
Beltran, William
University of Pennsylvania
“Medical Therapy Service”
$270,000
Dr. Beltran is conducting studies to optimize currently tested therapies, and develop/test new therapeutic approaches in dog models of inherited retinal degeneration (RD). His work, some of which is in collaboration with biopharmaceutical companies, is directed at moving these therapies into clinical trials.
Applebaum, Tatyana
University of Pennsylvania
“Gene Expression/Molecular Pathways in Photoreceptor Cell Death/Survival”
$55,000
Dr. Applebaum is performing research to understand the genetic and molecular pathways that lead to retinal cell death and survival. His work applies to a variety of retinal degenerative diseases including RP and age-related macular degeneration.
FFB-supported Meetings and Workshops
XVIIIth International Retinal Degeneration Symposium
“RD2018 September 03-08, 2018 in Killarney, Ireland”
$50,000
The XVIIIth International Retinal Degeneration Symposium will focus on age-related macular degeneration and inherited retinal degenerations with several keynote lectures, three full days of oral presentations, three evening poster sessions. The Foundation is supporting travel, meeting, lodging and meal expenses for five or more young postdoctoral trainees/junior faculty members the program.
CLINICAL RESEARCH INSTITUTE PROJECTS
FFB-Clinical Research Institute, Clinical Consortium
“RUSH2A Natural History Study”
The Foundation's Clinical Consortium has launched a natural history study to gain a better understanding of how USH2A mutations affect the severity and progression of vision loss. RUSH2A investigators at more than 20 international clinical sites, will use a variety of technologies to monitor changes in vision and retinal structure to document and analyze disease progression.
My Retina Tracker
“National Registry”
The Foundation has launched an online national registry for people with retinal degenerations. Known as My Retina Tracker, the confidential secure registry will enable patients and their physicians to collect and update information about the patients' disease, genetic profile, and/or clinical care.
Nacuity Pharmaceuticals, Inc.
“Development of N-acetyl cysteine amide (NACA) for use in treating patients with Retinitis Pigmentosa”
Nacuity is a Texas-based biotech developing N-acetycysteine amide for the treatment of retinitis pigmentosa
ProgStar Natural History Clinical Study
Dr. Scholl is serving as the principal investigator for ProgStar, a natural history study of people with Stargardt disease. The goals of the study include determination of endpoints and identification of participants for future clinical trials. The Foundation has included an ancillary study to investigate the rod photoreceptor's sensitivity during the natural course of the disease through the ProgSTAR Study
SparingVision
“RdCVF Preclinical Studies”
Under the leadership of Dr. Sahel, SparingVision is developing a gene therapy that delivers rod-derived cone viability factor — a protein showing promise in preserving cones in models of retinal degeneration. His work includes studies in preparation for a clinical trial.
ProQR
“Clinical Trial for LCA10 Treatment”
ProQR, a biotech company in the Netherlands, has reported vision improvements for patients in a Phase 1/2 clinical trial for QR-110, a therapy for people with Leber congenital amaurosis 10 (LCA10), which is caused by the p.Cys998X mutation in the CEP290 gene. The mutation is estimated to affect about 2,000 people in the Western world.
