ALAN LATIES CAREER DEVELOPMENT AWARD PROGRAM
Diana Davis Spencer Clinical Fellowship Awards
Calzetti, Giacomo – $65,000
Institute of Molecular and Clinical Ophthalmology Basel
“Ocular perfusion in retinal degeneration”
Dr. Calzetti is developing new imaging techniques to study the relationship between ocular blood flow, retinal structure and visual function to further our understanding of the mechanism of disease for inherited retinal diseases.
O'Neil, Erin – $65,000
University of Pennsylvania
“Optimizing Gene Therapy for Choroideremia: Redefining Cellular Targets, Treatment Window and Outcome Measures”
Dr. O'Neil is examining photoreceptors and RPE in early choroideremia to determine the appropriate targets for gene therapy in early stages of the disease.
Zhao, Peter – $65,000
University of Michigan
“Predicting individual patient outcomes in Stargardt disease using a deep learning approach”
Dr. Zhao is developing a deep learning algorithm, a form of artificial intelligence, to analyze fundus (back of the eye) autofluorescence images of patients with Stargardt disease.
Diana Davis Spencer Career Development Award
Huckfeldt, Rachel – $75,000
Massachusetts Eye and Ear Infirmary
“Mechanisms and novel therapies for cystoid macular edema associated with retinitis pigmentosa.”
Dr. Huckfeldt is investigating cystoid macular edema (CME), a common, vision-robbing complication of retinitis pigmentosa and other inherited retinal diseases. Dr. Huckfeldt will be working to better understand what causes the potentially harmful collection of fluid associated with CME, as well as better ways to treat it.
Career Development Awards
Borooah, Shyamanga – $75,000
Shiley Eye Center
“Combining the utility of human induced pluripotent stem cell modeling and CRISPR-Cas9 gene editing with adeno associated virus vector gene delivery to develop and optimize novel gene editing in inherited RPE disease.”
Dr. Borooah is testing CRISPR/Cas9 gene-editing (gene-correction) in human cells and animal models of autosomal dominant diseases affecting retinal pigment epithelial (RPE) cells. The conditions include: Late-onset retinal dystrophy, Sorsby fundus dystrophy, and Malattia Leventinese/Doyne honeycomb retinal dystrophy.
Jain, Nieraj – $75,000
Emory Eye Center, Emory University
“Redefining the pattern dystrophies through clinical and animal studies of a novel pigmentary maculopathy”
Dr. Jain is investigating a retinal dystrophy associated with chronic use of the interstitial cystitis drug pentosan polysulfate sodium (PPS). The retinal abnormalities in patients who use the drug are similar to those of people with age-related macular degeneration (AMD) and other retinal conditions known as pattern dystrophies. Using PPS, Dr. Jain plans to develop a mouse model that can be used to better understand, and test treatments for, AMD and pattern dystrophies.
Matsui-Serrano, Rodrigo – $75,000
Ophthalmological Institute CONVAL
“Clinical and Molecular characterization of Mexican patients with inherited retinal degenerations”
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 – $75,000
University of Sydney
“Structure, Function, Gene Therapy and Surgery in Retinal Dystrophies”
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.
Singh, Mandeep – $75,000
Johns Hopkins University
“Photoreceptor transplantation as a treatment for retinal degenerative diseases”
Dr. Singh is investigating transplantation of cones derived from embryonic stem cells for vision restoration. Cones are the photoreceptors that provide central and color vision, and the ability to read, drive, and recognize faces. Dr. Singh will be using mouse models to address cone photoreceptor transplantation challenges such as functional integration with the host retina and survival of newly introduced cells.
Vincent, Ajoy – $75,000
Hospital for Sick Children
“Genetics of Hereditary Macular Dystrophies”
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.
INDIVIDUAL INVESTIGATOR RESEARCH AWARD PROGRAM
Cellular Molecular Mechanism of Disease
Baker, Sheila Annetta – $100,000
University of Iowa
“Elucidating the Molecular Pathogenesis of Cone Dystrophy with Supernormal Rod Response”
Dr. Baker is using CRISPR/Cas9 to create a mouse model of CDSSR so that she and the research community can better understand how the disease occurs and identify targets for treatments.
Handa, James T. – $100,000
Johns Hopkins University
“Identifying RPE Subsets that Drive Dry AMD Progression”
Dr. Handa believes subsets of RPE cells are pathologic in AMD and play a lead role in driving the disease. His goal is to better understand and identify the changes in diseased RPE cell subsets and investigate potential targets for treating them.
Kay, Jeremy – $100,000
Duke University
“Molecular and cellular strategies to rescue visual impairment in CRB1 disease”
Dr. Kay believes he has identified a CRB1 isoform that will work well in a gene therapy for people. He is evaluating the rescue efficacy and expression pattern of this isoform. His efforts will help CRB1 gene therapy developers design the optimal gene therapy for people with CRB1 mutations.
Khanna, Hemant – $100,000
UMASS Medical School
“Generation and characterization of a porcine model of a common cause of autosomal recessive retinitis pigmentosa (RP25).”
Dr. Khanna's goal is to develop and characterize a large animal model of photoreceptor degeneration essential for preclinical studies and for mechanistic studies of how EYS contributes to photoreceptor health. Mutations in the EYS gene are the second most common cause of autosomal recessive Retinitis Pigmentosa, accounting for ~35% of cases. Unlike the pig, mice and rats do not express the EYS gene and therefore are not suitable models of EYS disease.
Neuringer, Martha – $99,722
Oregon Health & Science University
“Nonhuman Primate Model of Usher Syndrome”
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.
Roepman, Ronald – $100,000
Radboud University Medical Center
“Scrutinizing dynamic protein complex assembly in photoreceptor connecting cilia towards therapeutic modulation of inherited retinal degeneration”
Dr. Roepman project plans to identify therapeutic targets for retinal diseases that involve a structure in a retinal cell called a cilium, or hair. Using gene-edited retinal organoids of human retinal ciliopathies the investigators expect to understand the proteins and their function in these diseases, so they can understand how to correct them in disease.
Clinical Innovation Awards
Clinical: Structure and Function Relationships
Morgan, Jessica – $100,000
Scheie Eye Institute
“Adaptive optics structural and functional outcome measures for assessing inherited retinal disease”
Dr. Morgan and her team are using state-of-the-art, noninvasive multi-channel AOSLO retinal imaging combined with adaptive optics functional testing to precisely characterize disease progression in patients with inherited retinal degenerations including retinitis pigmentosa, Stargardt disease, and Leber congenital amaurosis.
Sabesan, Ramkumar – $100,000
University of Washington
“Imaging macular photoreceptor function in RP and normal controls using an optoretinogram”
Dr. Sabesan is using optoretinogram techniques to correlate retinal structure and function in patients with retinitis pigmentosa and those without retinal disease. His findings will help the research community better evaluate retinal disease progression and the efficacy of emerging therapies in clinical trials.
Wang, Yi-Zhong – $100,000
Retina Foundation of the Southwest
“Application of Deep Machine Learning for Identifying Structural and Functional Deficits in Retinitis Pigmentosa”
Mr. Wang will use recombinant AAVs to determine how CX3CL1 expression affects photoreceptor survival and visual function in RP mice.
Gene Therapy
Auricchio, Alberto – $100,000
University "Federico II"
“Homology-independent targeted integration for gene therapy of dominant retinitis pigmentosa”
Dr. Auricchio is developing a gene-editing therapy — homology-independent targeted integration (HITI) which uses CRISPR/Cas9 — to cut and replace both the normal and mutated copies of RHO.
Sharon, Dror – $100,000
Hadassah- Hebrew University Medical Center
“ADAR-based RNA Editing as a Potential Therapy for Inherited Retinal Degenerations”
Dr. Sharon is working to advance an RNA editing technology to correct specific retinal disease-causing mutations. By developing and administering novel biological machinery to the retina that uses enzymes called “adenosine deaminase acting on RNA” or ADAR that serve as molecular editors to correct a specific mutation in RNA.
Byrne, Leah – $100,000
University of Pittsburgh
“High throughput development of cell-specific AAV variants and promoters on a single cell level”
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.
Flannery, John – $100,000
University of California, Berkeley
“Optogenetic Vision Restoration”
Dr. Flannery's team is developing optogenetic approaches that will work in a broader spectrum of lighting conditions and potentially provide better perception of details than other optogenetic alternatives in clinical trials.
Gyorgy, Bence – $100,000
Institute of Molecular and Clinical Ophthalmology Basel
“Prime editing for Usher Syndrome Type 2A”
Dr. Gyorgy's goal is to use a next generation gene editing technique called Prime editing. Like CRISPR/Cas9 gene editing it is a search and replace technique that can correct genetic sequences in a mutated gene. It may have the potential to be better than CRISPR/Cas9 editing in some situations, but that remains to be proven. This proposal seeks to understand the value of Prime editing and will use correction of the USH2A gene to develop the technology.
Liu, Qin – $100,000
Massachusetts Eye and Ear Infirmary
“Development of CRISPR/Cas9-based genome editing approaches for RP1 associated autosomal dominant retinitis pigmentosa”
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.
Trapani, Ivana – $100,000
Università degli Studi di Napoli "Federico II", Naples, Italy
“Homology-independent genome editing for treatment of Stargardt Disease”
Dr. Trapani plans to generate a treatment for Stargardt disease by developing a gene editing approach that converts the mutated ABCA4 gene in a patient’s DNA back into the normal sequence inside photoreceptors.
Wijnholds, Jan – $100,000
Leiden University
“Advance Gene Therapy Research for CRB1-related RDDs”
Dr. Wijnholds is conducting preclinical studies of gene therapy for CRB1-related retinal degeneration (both RP and LCA)
Genetics
Audo, Isabelle – $100,000
Institut de la Vision
“Unraveling missing gene defects underlying extensively investigated IRDs through a comprehensive pipeline including disease modeling in patient-derived retinal organoids”
Dr. Audo and her team are using whole genome sequencing and subsequent tests in patient cells to identify their novel gene mutations.
Cremers, Frans – $100,000
Radboud University Medical Center
“Deciphering the mechanisms underlying variable expression and non-penetrance of Stargardt disease”
Dr. Cremers and his team are genetically analyzing Stargardt disease in families and sibling pairs to identify potential modifier genes, which may also be targets for vision-preserving therapies.
Perlman, Ido – $100,000
Technion – Israel Institute of Technology
“Mapping Inherited Retinal Degenerative Diseases (IRDD) in the Israeli Population”
Dr. Perlman is leading a team of researchers in an Israeli consortium to genetically diagnose the vast majority of Israeli RDD patients and to test gene-based therapeutic modalities on selected groups of patients
Novel Medical Therapy
Banfi, Sandro – $100,000
Fondazione Telethon
“AAV-Sponge-mediated modulation of microRNA-181a/b: a potential therapeutic approach for Inherited Retinal Disease”
Dr. Banfi is evaluating inhibition of microRNAs 181a/b as a therapeutic approach (prevention of cell death) in several mouse models of inherited retinal disease. The approach may be beneficial to people with a broad range of retinal degenerative conditions.
Bernstein, Paul S. – $100,000
University of Utah
“VLC-PUFA Therapeutics for Dry AMD and Dominant Stargardt Disease (STGD3)”
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.
Cheetham, Mike – $134,933
UCL Institute of Ophthalmology
“Investigating the potential of Eupatilin as a ciliopathy therapy using 3D retinal organoids.”
Dr. Cheetham is independently validating the published findings on the effects of eupatilin and extending the research into a human 3D retinal organoid model to show the potential to treat inherited retinal dystrophies associated with loss of CEP290 function.
Lipinski, Daniel – $100,000
Medical College of Wisconsin
“Maintaining proteostasis to prevent photoreceptor degeneration in retinal disease”
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, W. Clay – $100,000
University of Florida
“Enhancing Metabolism in Photoreceptors with a Modified Arrestin to Treat Retinal Degeneration”
Dr. Smith’s goal is to boost glycolysis in photoreceptors to slow degeneration. He is working to accomplish this by delivering a modified arrestin1 protein to photoreceptors in various animal models. This approach is designed to work independent of the disease-causing gene mutation, so it has the potential to help people with a broad range of inherited retinal diseases.
Zack, Donald J. – $99,973
Johns Hopkins University
“Development of AAV Vector-mediated CRISPR/Cas9 Gene Editing for the Treatment of ADRP”
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
McGill, Trevor – $100,000
Oregon Health and Science University
“Inhibition of retinal microglia to promote survival of transplanted RPE cells”
Dr. McGill is investigating drugs that can inhibit microglia when retinal pigment epithelial cells (RPE) are transplanted to treat retinal conditions such as age-related macular degeneration and Stargardt disease.
Reh, Thomas – $98,767
University of Washington
“Stimulation of neural regeneration from human Muller glia”
Dr. Reh's project focuses on stimulating the growth of new retinal cells from nearby Muller glia cells, by using reprogramming genetic factors. This study will provide evidence for whether Muller glia cells can be used to repair damaged human retinas.
ELUSIVE GENE INITIATIVE
Ayyagari, Radha – $500,000
University of California, San Diego
“Identification of the elusive genetic causality of inherited retinal degenerations (IRDs)”
Dr. Ayyagari and her team will be looking for ultra-rare IRD genes yet to be discovered, as well as hard-to-find defects in known genes. The study will include more than 140 families and an additional 400 individuals.
TRANSLATIONAL RESEARCH ACCELERATION PROGRAM
Gund Harrington Initiative for Fighting Blindness
Kramer, Richard – $90,000
University of California, Berkeley
“Assessing in vivo functional restoration of retinal light responses by BENAQ, a photoswitch drug candidate for retinitis pigmentosa”
Gund Harrington Scholar
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.
Lu, Zheng-Rong – $146,933
Case Western Reserve University
“Nonviral Gene Therapy for Stargardt Disease”
Gund Harrington Scholar
Dr. Lu will develop smart lipid/DNA nanoparticles to treat Stargardt disease.
Martin, Steve – $135,409
University of Texas at Austin
“Development of small molecule modulator for preserving vision in people with retinitis pigmentosa”
Dr. Martin and his colleagues are developing a small-molecule modulator known as TMEM97/σ2R that can be administered into the vitreous in a slow-release formulation to delay the progression of photoreceptor loss and to preserve vision in people with retinitis pigmentosa. The emerging therapy is designed to work independent of the underlying gene mutation causing the disease. The goal is to develop a drug that can be moved into toxicology studies in preparation for a clinical trial.
Matsuyama, Shigemi – $164,088
Case Western Reserve University
“High Throughput Screening (HTS) of Cyto-protective Small Molecules Protecting Retinal Cells from Bax and Bak”
Gund Harrington Scholar
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 – $299,132
Columbia University
“Pharmacological treatments for Stargardt disease”
Gund Harrington Scholar
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
Saha, Krishanu – $191,803
University of Wisconsin-Madison
“Gene Editing Nanomedicines to Correct Pathogenic Mutations in the Retina”
Gund Harrington Scholar
Dr. Saha will generate nanocarriers of gene editing machinery. These nonviral delivery strategies sidestep the safety issues inherent in viral delivery. His approach will leverage nanoscale assembly of CRISPR-Cas9 components to promote precise gene correction.
Translational Research Acceleration Program Awards
Boye, Shannon – $200,000
University of Florida
“Dual AAV vector-mediated therapy for MyosinVIIa Usher syndrome (USH1B)”
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 gene delivery systems don’t have the capacity for the large gene such as MYO7A.
Gamm, David – $162,000
University of Wisconsin-Madison
“Test of readthrough drug treatment for UGA PTC in the USH1B gene.”
Dr. Gamm, in collaboration with David Williams, will establish the feasibility of using readthrough drugs as an interim treatment for a subset of mutations causing Usher 1B.
Williams, David – $180,615
UCLA
“Test of readthrough drug treatment for UGA PTC in the USH1B gene.”
Dr. Williams, in collaboration with David Gamm, will establish the feasibility of using readthrough drugs as an interim treatment for a subset of mutations causing Usher 1B.
Philpot, Ben – $75,000
University of North Carolina
“Building IMPG2 Models Systems to Test Novel Therapeutics”
Dr. Philpot will maintain a Y250C IMPG2 missense mouse line for future testing of functional recovery in vivo with base editors, generate AAV-mediated vectors for base pair editing in mice, and test for safety and functional recovery in mice by end of year two. These studies have the potential to show that base editors can prevent the progression of RP.
PROGRAM PROJECT AWARD
Allikmets, Rando – $496,691
Columbia University
“Integrated analysis of genetic and clinical data for rational clinical trials of Stargardt disease”
Dr. Allikmets and his team will recruit and evaluate patients and family members with ABCA4 disease and associated maculopathies, perform clinical studies to determine quantifiable biomarkers, determine the interplay of ABCA4 variation with that in other genes (i.e., modifiers) resulting in specific sub-phenotypes and sub-categories (slow and fast progressors,) and will search for new genes modifying ABCA4 disease.
Cremers, Frans – $503,434
Radboud University Nijmegen Medical Center
“Splice modulation to treat inherited retinal diseases”
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.
Dalkara, Deniz – $402,026
Fondation Voir et Entendre
“Next Generation Optogenetics for Vision Restoration”
Dr. Dalkara and her team are developing an optogenetic therapy that can be administered to different retinal cell types depending on the condition (stage of disease) of the patient’s retinal structure. Furthermore, the approach has the potential to bestow a higher degree of sensitivity (i.e., better vision) than current optogenetic approaches in clinical trials and translational studies.
Duncan, Jacque – $498,656
University of California, San Francisco
“Characterization of existing and newly developed models of Usher Syndrome”
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
Pierce, Eric – $500,000
Mass Eye and Ear, Harvard Medical School
“Platforms for Genetic Therapies of Inherited Retinal Degenerations Due to Mutations in Large Genes”
Dr. Pierce is leading a team of scientists is develop effective genetic therapeutic platforms for IRDs caused by mutations in genes that are too large to fit in AAV. Their approaches include minigenes, CRISPR/Cas9 mediated genome editing, and base editing.
Roepman, Ronald – $530,900
Radboud University Nijmegen Medical Center
“Targeting proteostasis and protein quality control in photoreceptors towards therapeutic intervention”
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.
Penn Large Animal Model Translational and Research Center
Beltran, William – $300,000
University of Pennsylvania
“Translational Retinal Therapy Facility & Service”
Dr. Beltran and his team are using dog models to accelerate the development and pre-clinical testing of new and effective approaches to treat different forms of IRDs. This program will focus on identifying new canine forms of IRD and establishing how well they recapitulate the equivalent human retinal diseases. Models that are clinically relevant will then be characterized and used to better understand the disease process, with the goal of identifying new therapeutic targets.
Sudharsan, Raghavi – $117,318
University of Pennsylvania
“Development of Late Stage Retinal Disease Therapies”
Dr. Sudharsan’s is working to establish novel strategies to improve gene therapy outcome in patients treated at advanced stages of IRDs. The objective is two-fold: 1) to develop novel photoreceptor-specific promoters for AAV-mediated gene therapy with improved treatment efficacy at patient-relevant advanced stages of retinopathies, and 2) to assess the potential clinical benefits of regulating retinal inflammation using a drug therapy in combination with gene therapy.
Aguirre, Gus – $82,682
University of Pennsylvania
“Models Discovery & Characterization”
Dr. Aguirre will continue to drive the expansion of the portfolio of naturally occurring canine models by identifying the genetic and molecular players that impair function and/or lead to cell death in new IRDs recently introduced into the Center’s research colony. Characterization of the clinical features and natural course of disease will assist with identifying the best models for future translational studies.
Non-Rodent Large Animal Model Award
McCall, Maureen A. – $170,752
University of Louisville School of Medicine
“Creation of new models of inherited retinal disease in swine”
Dr. McCall and her team proposes to characterize a new autosomal dominant RP pig model that carries the P23H rhodopsin mutation. They propose to re-establish a model with a slow disease onset followed by a rapid decline in rod photoreceptor function and expand the colony for research use. The team will also create a second model and use gene editing to create an ABCA4 knockout pig model for Stargardt disease. For both models, they will generate natural history of disease onset and progression, using approaches common in patient populations.
Neuringer, Martha – $133,766
Oregon Health & Science University
“Propagation of a Nonhuman Primate Model of Usher Syndrome”
Dr. Neuringer and her team are developing the methodology to optimize the genetic engineering tools needed to create a macaque model of an inherited retinal disease, this program seeks to now create a better model of Usher disease 1B in non-human primates, confirm how closely it resembles the human disease, and use the model to test a new type of dual-AAV gene therapy.
Roska, Botond – $250,000
Institute of Molecular and Clinical Ophthalmology Basel
“Developing a non-human primate model for Stargardt disease caused by the ABCA4 G1961E mutation.”
Dr. Roska and his team of investigators are using the CRISPR/Cas9 gene editing system to create a marmoset model carrying the humanized sequence of the ABCA4 with the G1961E Stargardt disease causing mutation. Previously it has been shown that 15 to 20% of patients carry the same mutation in the ABCA4. In generating this model, they also expect to generate a mutation-independent knock-out model of Stargardt disease.
Research Core Award
den Dunnen, J.T. – $232,055
Leiden University Medical Center
“Comprehensive registry and in silico assessment of variants associated with non-syndromic inherited retinal diseases, Bardet-Biedl syndrome and Usher syndrome”
Dr. Den Dunnen and Dr. Frans Cremers host the Leiden Open Variation Database platform, a genetic variant database for use by the Inherited Retinal Disease research community.
CLINICAL RESEARCH PROJECTS
Foundation Fighting Blindness Clinical Consortium
“PRO-EYS Natural History Study”
The Foundation is supporting an international, four-year study called PRO-EYS, to study retinal degeneration caused by a mutation in the EYS gene, one of the more common causes of autosomal recessive RP. The study will evaluate a variety of clinical measures with the goal of identifying those measures that are most useful to apply in future clinical trials to show if a therapy is working.
Foundation Fighting Blindness Clinical Consortium
“Rate of Progression in USH2A Related Retinal Degeneration: The RUSH2A 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 Registry
“National Registry”
The Foundation’s online national registry for people with retinal degenerations. A confidential secure registry to enable patients and their physicians to collect and update information about the patients' disease, genetic profile, and/or clinical care.
