ALAN LATIES CAREER DEVELOPMENT AWARD PROGRAM
Diana Davis Spencer Clinical Fellowship Awards
Alekseev, Oleg – $65,000
Duke University
“Vitamin A Supplementation to Alleviate Night Vision Impairment in Choroideremia Patients”
Dr. Alekseev is examining the use of vitamin A to improve nighttime and peripheral vision in Choroideremia patients. He will also study potential visual function outcome measures for use in Choroideremia clinical trials.
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.
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.
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
Roosing, Susanne – $75,000
Radboudumc, Nijmegen, The Netherlands
“Exploring ectopic gene expression as a novel disease mechanism in autosomal dominant retinal disease”
Dr. Roosing’s project aim is to uncover elusive genes that cause IRDs in complex structural variants and chromosomal rearrangements that lead to errors in or wrongly expressed genes in the retina.
Rosin, Boris – $75,000
University of Pittsburgh
“Harnessing the Central Nervous System in the treatment of Inherited Retinal Dystrophies”
Dr. Rosin will study the changes of the visual pathways and visual circuit plasticity of the central nervous system prior to and following the application of gene therapy in animal models of IRDs, including a mouse model of retinitis pigmentosa.
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.
Roepman, Ronald – $10,000
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
Carroll, Joseph – $97,200
Medical College of Wisconsin
“Advancement of Ellipsoid Zone Intensity as a Surrogate Biomarker for Photoreceptor Structure”
Dr. Carroll seeks to correlate the detailed relationship between the biological marker, Ellipsoid Zone or EZ area, and the underlying photoreceptor structure when using optical coherence tomography (OCT). Dr. Caroll believes that the intensity of the images captured by OCT of the EZ may reflect the amount of retina degeneration.
Cooper, Robert – $95,226
Marquette University
“Assessing the Function of Individual Cells in Patients with Inherited Retinal Degenerative Disease”
Dr. Cooper's goal is to take a well-studied retinal imaging technique, adaptive optics, typically used to assess photoreceptor structure and use it to measure photoreceptor function. With appropriate optimization and analysis, the optophysiological changes captured by adaptive optics can be used to measure function of individual photoreceptors in patients with retinal disease at a greater resolution to standard clinical assays.
Farsiu, Sina – $100,000
Duke University
“Automated Software for Analysis of Adaptive Optics Scanning Optical Coherence Tomography Images”
Dr. Farsiu is developing fully-automated computational methods and software to quantify photoreceptors captured in 3-dimensional images using adaptive optics scanning optical coherence tomography, a high resolution imaging modality. He will integrate the final algorithms into a free and easy to use software package.
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.
Coppieters, Frauke – $100,000
Ghent University
“Design of a novel antisense oligonucleotide therapy for inherited retinal diseases”
Dr. Coppieters' goal is to design and validate a novel, mutation-independent antisense oligonucleotide (ASO) therapy which will target specific parts of the genome that control retinal RNA expression and ultimately protein production.
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.
Gorbatyuk, Marina – $100,000
University fo Alabama at Birmingham
“Targeting Tribbles Homolog 3 Protein in Retinal Degeneration”
Dr. Gorbatyuk is ising a multiprong approach to test the hypothesis that TRIB3 inhibition/reduction of TRIB3 activity will be neuroprotective to the degenerating retina, regardless of the underlying genetic cause.
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
Mass Eye and Ear
“SNP and haplotype-based gene editing approaches for the treatment of inherited retinal degenerative diseases”
Dr. Liu is developing gene editing strategies for the treatment of RP due to mutations in RP1, the third most common dominant RP gene; however, this approach is applicable for other types of autosomal dominant RP as well as other IRDs with autosomal dominant inheritance.
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.
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.
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.
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.
Dinculescu, Astra – $100,000
University of Florida
“Generation and Characterization of Swine Models of Usher Syndrome Type 3”
Dr. Dinculescu is developing an animal model that recapitulates aspects of human USH3, thus allowing for the execution of experiments to not only study the pathobiology of the disease, but also to provide an in vivo system for the testing of potential therapeutics.
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.
Regenerative Medicine
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
Lu, Zheng-Rong – $298,041
Case Western Reserve University
“Nonviral Gene Therapy for Stargardt Disease”
Dr. Lu will develop smart lipid/DNA nanoparticles to treat Stargardt disease.
Gund Harrington Scholar
Martin, Steve – $373,804
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.
Saha, Krishanu – $191,873
University of Wisconsin-Madison
“Gene Editing Nanomedicines to Correct Pathogenic Mutations in the Retina”
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.
Gund Harrington Scholar
Translational Research Acceleration Program Awards
Collin, Rob – $424,746
Radboud University Medical Center
“Antisense oligonucleotides for the treatment of Stargardt disease”
Dr. Collin is developing antisense oligonucleotides (AONs) for the treatment of Stargardt disease. AONs are small synthetic RNA molecules that can bind complementarily to pre-mRNA molecules. Therapeutically, AONs can be employed to correct disease-causing genetic variants.
Farhan, Mahdi – $999,700
Usher III Initiative
“Completing pre-IND Toxicity Studies to Advance a Novel Small-Molecule Therapy for Usher Syndrome Type III to Phase-1 Clinical Trials”
Dr. Farhan and the Usher III Initiative team will complete FDA-mandated studies on a small molecue prior to initiating Phase-1 Clinical Trials in humans to mitigate impacts of Usher Syndrome Type III (USH3). There studies will focus on establishing their lead therapy's safety profile, toxicity, dose, and risk-benefit assessment for humans. The objective is to advance a small molecule candidate as an oral therapy to halt or attenuate visual impairment experienced by individuals with USH3.
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.
Reh, Thomas – $287,264
University of Washington
“Stimulating neural retinal regeneration from Muller glia in the non-human primate retina”
Dr. Reh is exploring the feasibility of stimulating endogenous regeneration of retinal neurons from Müller glia in non-human primates. His project seeks to establish a protocol to repurpose a fraction of the Müller glia to restore cone photoreceptors in nonhuman primates.
Rohrer, Bärbel – $178,385
Medical University of South Carolina
“Proof of Concept Study for AAV-CR2fH in a Model of Dry AMD”
Dr. Rohrer proposes to evaluate a genetic-based therapy in an Non-Human Primate model that exhibits a syndrome of early onset, progressive, dominantly inherited drusenoid maculopathy. The animals will be placed on a high fat diet reflecting the nutrient composition of the average U.S. diet, which enhances the accuracy of the model for human dAMD. The phenotype of this syndrome, and the drusen composition, show similar morphology and expression of key markers similar to human dAMD (publication in preparation).
Scholl, Hendrik – $600,000
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
“Cone-based optogenetics for vision restoration”
Dr. Scholl and Dr. Roska's project goal is to deliver an optogenetic sensor (light-stimulated protein) by AAV to dormant cone cells in RP patients to reanimate these cells. This would be a gene-agnostic approach
Tsang, Stephen – $100,000
The Trustees of Columbia University in the City of New York
“1 Therapeutic cell - specific CRISPR editing of a roxadustat target for autosomal dominant retinitis pigmentosa”
Dr. Tsang is developing a gene-editing technology that reprograms rod and cone aerobic glycolysis which should promote cone photoreceptor cell survival in RP, independent of the underlying rod-specific genetic variants. This project seeks to advance an alternative path to retinal cell survival through gene-editing.
Yang, Paul – $300,000
Casey Eye Institute, Oregon Health and Science University
“Inosine Monophosphate Dehydrogenase (IMPDH) Inhibitors are a New Class of Neuroprotective Agents in Inherited Retinal Degenerations”
Dr. Yang’s lab will work to determine if inosine monophosphate dehydrogenase (IMPDH) is a druggable target for suppressing photoreceptor death due to cGMP toxicity. cGMP is the second messenger of phototransduction, and abnormal cGMP levels are associated with photoreceptor death in some retinal diseases.
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 – $522,530
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 – $522,602
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 – $498,409
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 – $539,021
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 – $500,000
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.
Non-Rodent Large Animal Model Award
McCall, Maureen A. – $167,507
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 – $228,344
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 – $150,000
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. – $218,446
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.
Foundation Fighting Blindness Clinical Consortium
“USH1F Natural History Study”
A natural history study, the Rate of Progression in PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F)
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.
FREE FAMILY AGE RELATED MACULAR DEGENERATION AWARD
Pera, Martin – $198,790
The Jackson Laboratory
“Precision Functional Genomics for Modeling Pathogenesis of Age Related Macular Degeneration”
Dr. Pera and Dr. Nishina seek to create models of AMD, to investigate a potential cellular pathway that may be critical for causing AMD, and lastly, to assess genetic causes of AMD disease. They will first use a precision medicine approach to generate multiple strains of mouse stem cell-derived RPE cells that are deficient in a known genetic risk factor for AMD called TIMP3. Based on this outcome they will then determine if they can predict the consequences of these mutations to the development of disease in a whole animal.
