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- Brint Family Translational Research Awards
- Alan Laties Career Development Award Program
- Career Development Award
- Ted and Elaine Welp Enhanced Career Development Award
- Clinical Innovation Award
- Free Family AMD Research Award
- Individual Investigator Research Award
- Non-Rodent Large Animal Award
- PRPH2 and Associated Retinal Diseases Award
- Program Project Award
- Research Core Award
BRINT FAMILY TRANSLATIONAL RESEARCH AWARDS
Yvan Arsenijevic – $300,000
Fondation Asile des aveugles, University of Lausanne
“Gene augmentation therapy for FAM161A-associated retinal degeneration: IND-enabling studies towards a Phase I/IIa clinical trial”
Dr. Arsenijevic's team is developing a gene therapy to treat retinitis pigmentosa caused by mutations in the FAM161A gene. In this disease, the FAM161A protein is nonfunctional, leading to faulty photoreceptors that progressively deteriorate. To advance this treatment, he will conduct preliminary, pre-IND-enabling studies, that are necessary for moving toward a clinical trial.
Vadim Arshavsky – $300,000
Duke University
“Gene-Agnostic Therapy for Retinal Degenerations”
Dr. Arshavsky is working to address a problem found in several retinal diseases that affect the function of retinal proteins. In a process called 'proteasomal overload' there are too many misshaped or wrongly directed proteins. Normally, proteins are broken down or recycled through machinery called proteosomes, but when there's an overload, these machines can't keep up. To combat this, the team plans to use gene therapy to boost the number of proteosomes in the photoreceptor, helping to reduce the overload and potentially slow down disease progression.
Mike Byrne – $327,150
Wave Life Sciences
“Wave 1A, a stereopure antisense oligonucleotide to treat P23H RHO adRP”
Dr. Byrne will advance the development of Wave1A, a stereopure antisense oligonucleotide (spASO) designed to selectively reduce mutant P23H RHO mRNA without the risks of viral delivery. This project seeks to optimize repeat intravitreal dosing in a pig model to maintain rod and cone function. Results will hopefully inform IND-enabling studies.
Konstantinos Charizanis – $513,000
Crank Bio, Inc.
“Engineered small nuclear guide RNA (SNuG-RNA) for a safe and effective USH2A therapy”
Dr. Charizanis will develop a new gene therapy approach for Usher Syndrome Type 2, a condition that causes both vision and hearing loss and currently has no treatment. His team is designing an AAV-based gene therapy that uses engineered RNA to skip a faulty region of the USH2A gene, with the goal of restoring normal protein function. This project will test the effectiveness and safety of lab-grown retinal tissue and lay the groundwork needed to move this promising therapy toward clinical trials.
Yuanyuan Chen – $300,000
University of Pittsburgh
“Nuclear speckle rejuvenation to treat retinitis pigmentosa (RP).”
Dr. Chen is working on proof-of-concept of a new approach for treating dominant forms of retinitis pigmentosa (RP). The team plans to use a drug therapy, specifically a compound called pyrvinium pamoate, to help regulate proteins in photoreceptors. Inside the cell nucleus, there are structures called nuclear speckles that are rich in factors needed for processing pre-messenger RNAs, molecules that are the precursors of proteins. The team believes that by boosting the activity of these nuclear speckles, they could enhance the entire protein regulation pathway. This could potentially reverse the harmful effects of aberrant protein-related neurodegeneration, including RP.
Sylvain Chemtob – $215,850
Research Center of Hopital Maisonneuve-Rosemont
“Therapeutic innovation for ‘dry’ macular degeneration targeting IL-1R modulation”
Dr. Chemtob will advance MU-010, a novel interleukin-1 receptor modulator, for treating geographic atrophy in dry macular degeneration. This innovative treatment aims to reduce harmful inflammation without affecting the immune system, making it safer and more effective than current options.
David P. Corey – $402,223
Harvard Medical School
“Development of Mini-Gene Therapy for Usher Syndrome Type 1F Blindness”
Dr. Corey's team is working on a new approach to treat Usher syndrome type 1F, a condition caused by mutations in the PCDH15 gene. The challenge is that this gene is too large to fit into the standard virus vectors (like AAV) that are often used in gene therapy. To overcome this, the team has created smaller versions of the PCDH15 gene, which they call 'mini-genes'. These mini-genes can fit into the AAV vectors. The team will test these mini-PCDH15 constructs in zebrafish, mice, and human retinal organoids (which are like mini 3D models of the retina) to see if this new approach could be a potential treatment for Usher syndrome type 1F.
Michal Hannan – $419,000
Piximune, Inc.
“Unlocking the Endogenous Protective Mechanisms of mMcroglia: A Novel Therapeutic Approach to Treat Geographic Atrophy”
Dr. Hannan will develop a new treatment approach for geographic atrophy by activating the eye’s own protective immune cells, called microglia. Piximune is creating specialized antibodies designed to boost these cells’ ability to protect retinal tissue and slow disease progression. This project will refine the therapy, test its safety and effectiveness in animal models, and prepare it for advancement toward clinical trials.
Philip Kiser – $269,779
University of California Irvine
“Soft visual cycle modulators for treatment of Stargardt disease”
Dr. Kiser will develop a new class of treatments for Stargardt disease designed to reduce harmful byproducts in the eye while preserving night and low-light vision. Dr. Kiser's team will create and test improved compounds, evaluate their safety, and study their effectiveness in an animal model of the disease. If successful, this work could lead to human clinical trials and potentially provide a safer, more tolerable therapy for Stargardt disease and related conditions like dry age-related macular degeneration.
Aparna Lakkaraju – $256,207
University of California, San Francisco
“Zephyr: a gene agnostic combinatorial therapeutic approach for Stargardt disease and dry AMD”
Dr. Lakkaraju will develop a new treatment approach for Stargardt disease and dry age-related macular degeneration by combining two existing drugs that work together to protect retinal cells. Her team will test whether this therapy can prevent or slow vision loss in multiple disease models, while also improving how the treatment is delivered and confirming its safety. If successful, this work could lead to a broadly applicable therapy that works across different genetic causes of retinal disease.
Denise Montell – $300,000
University of California, Santa Barbara
“Development of a New Gene Therapy for Autosomal Dominant Retinitis Pigmentosa”
Dr. Montell is pioneering a gene therapy approach to combat retinitis pigmentosa (RP), specifically the autosomal dominant form caused by misfolded rhodopsin protein. By promoting the degradation of misfolded rhodopsin, through overexpression of the ZIP7 gene, Dr. Montell aims to slow retinal degeneration. Additionally, overexpressing the ZIP7 gene—a zinc transporter protein—may relieve cellular stress and prevent photoreceptor cell death in various models of autosomal dominant RP.
Shigemi Matsuyama – $500,000
Case Western Reserve University
“Prevention of blindness by an orally available cell death inhibitor”
Dr. Matsuyama is currently evaluating a group of compounds known as the M109S series. These compounds are novel inhibitors of a protein called Bax, which exists in all human cells and plays a role in cell death. By blocking Bax protein activity, there is potential to prevent cell death in the retina, particularly in patients with retinitis pigmentosa (RP).
Daniel Paull – $296,150
The Jackson Laboratory
“Precision drug discovery for dry age-related macular degeneration using large-scale iPSC modeling”
Dr. Paull will develop a precision medicine platform using stem cells from AMD patients to create retinal cells for drug testing. By automating this process and using advanced imaging and AI, he aims to discover new therapeutic targets and accelerate drug discovery for age-related macular degeneration and other retinal diseases.
Karsten Schmidt – $498,860
BioJiva
“Testing the efficacy of RT011, a deuterated form of DHA, as a mutation independent therapy in retinitis pigmentosa”
Biojiva is testing if BRX011, a novel mutation-independent oral drug candidate, can preserve retinal cones and cone function despite rod death in retinitis pigmentosa. To accomplish this goal, this project will evaluate BRX011 (D-DHA [docosahexaenoic acid]), a deuterated DHA analog in two complementary animal models of chronic RP (a juvenile pig model with early RP onset and an adult mouse model with late RP onset).
Clinical Research Fellowship Award
Valencia Potter – $65,000
University of Iowa
“Hypertonic Intervention and Retinal Structure and Function in Rs1-KO mice”
Dr. Potter will explore whether simple approaches, like a high-salt diet or mannitol injections, can reduce these cysts and protect vision without surgery. Her study will use a mouse model of XLRS to test these treatments and measure improvements in retinal function and structure using imaging and electrical activity tests. She will also examine whether these therapies help preserve the cells responsible for central vision
Career Development Award
Jason Miller – $75,000
Kellogg Eye Center, University of Michigan
“Regulation and Role of RPE Beta-Oxidation in AMD-Relevant Pathology”
Dr. Miller will explore the role of retinal pigment epithelium (RPE) and its ability to degrade the toxic fatty deposits known as drusen. Drusen accumulation outside the RPE leads to RPE death, as well as photoreceptor death, and causes central vision loss. Dr. Miller will use a genetically engineered mouse model and dish-grown RPE cells to determine whether RPE’s ability to degrade fat is important in preventing drusen buildup outside the RPE.
Christopher Toomey – $75,000
Shiley Eye Institute, UC San Diego
“Heparan Sulfate and Lipoprotein Interactions in Bruch's Membrane in the Early Stages of AMD”
Dr. Toomey will investigate whether age-related changes in heparan sulfate (HS) contribute to lipoprotein retention in Bruch’s Membrane during early AMD. HS is a kind of sugar molecule found in the Bruch's membrane (thin layer between the retinal pigment epithelium and choroid,) which normally
holds onto important nutrients and proteins, but as we age changes in HS can cause it to hold onto fats, which shouldn’t be there. This can lead to more drusen and worse vision.
Ishrat Ahmed – $75,000
Johns Hopkins University
“Extracellular vesicles as mediators of cellular dysfunction at the transition zone in retinitis pigmentosa”
Dr. Ahmed will investigate how cells in the retina communicate and contribute to disease progression in retinitis pigmentosa, with a focus on extracellular vesicles (EVs). EVs play a crucial role in cell-to-cell communication, helping to transfer information and materials between cells. Dr. Ahmed will evaluate how EVs released by damaged retinal cells transmit signals that influence the progression of the disease at the
transition zone.
Robert Hyde – $75,000
University of Illinois-Chicago
“Inner retinal dysfunction in retinitis pigmentosa”
Dr. Hyde is using a novel electroretinography (ERG) protocol in animal models of retinal degeneration to determine whether retinal remodeling leads to aberrant responses in inner retinal neurons that mask responses to a visual stimulus. ERG is a non-invasive means to measure the electrical responses of various cell types in the retina, to assess function. Inner retinal remodeling can cause aberrant inner retinal responses that limit the potential for functional improvement in all therapies that improve photoreceptor function.
Christopher Langlo – $75,000
Medical College of Wisconsin
“High Resolution Measures of Structure and Function in Retinal Degenerative Diseases”
Dr. Langlo will use high-resolution images to observe individual cells and assess their response to a flash of light with a technique called optoretinography (ORG). This technique will be applied to patients to examine photoreceptor function in areas along the borders of atrophic regions (dead zones) and near drusen buildups, comparing these to unaffected retinal areas. Dr. Langlo aims to use ORG to understand how cone cells in the eye are affected by changes in the retina's surface.
Thomas Mendel – $75,000
Ohio State University
“Surgical and adjuvant assisted retinal gene therapy”
Dr. Mendel will use a pig model to test a novel gene therapy administration approach that combines both administration on top of the retina (rather than under the retina) with insulin added to the gene therapy medication to accelerate uptake into retinal cells. Dr. Mendel hypothesizes this gene-agnostic approach will limit inflammation and deliver the gene therapy faster without retinal function degradation.
Lesley Everett – $75,000
Oregon Health & Science University Casey Eye Institute
“Investigation of the role of TUBGCP4 and TUBGCP6 in the development of the retinal vasculature”
Dr. Everett is discovering the role of TUBGCP4 and TUBGCP6 in chorioretinopathy and retinal vascular development, and to investigate whether they represent novel therapeutic targets to inhibit new blood vessel growth. This will determine whether TUBGCP4 and TUBGCP6 regulate retinal vascular development in a cell-autonomous manner.
Debarshi Mustafi – $75,000
University of Washington
“Deciphering the Missing Heritability in Inherited Retinal Diseases with Targeted Long-Read Genome Sequencing”
Dr. Mustafi is using long-read DNA sequencing technology to identify heritability in cases where standard genetic testing does not provide an answer due to hidden non-coding variants. Autosomal recessive inheritance requires 2 nonworking variants, and in many cases, only 1 or no variants are located in patients with clinical features of an IRD. Dr. Mustafi will analyze cases where only 1 genetic variant of ABCA4 and USH2A patients have been identified thro`ugh genetic testing and more in-depth mapping of the genome may result in the detection of a second non-coding variant. This data will be used to expand the gene panel testing of IRD patients to look for rare variants currently not included in standard testing.
Thomas Wubben – $75,000
University of Michigan
“Metabolic uncoupling and AMD: assessing the role of PKM2 in the bioenergetic crisis of the outer retina”
Dr. Wubben is developing a fundamental understanding of how photoreceptors metabolic adaptations uncouple the finely tuned metabolic system in dry AMD and aims to reveal the significance of modulating a metabolic target in photoreceptors.
Brian Ballios – $75,000
University Health Network
“Controlling the lineage specification and differentiation of photoreceptor progenitors for retinal regeneration”
Dr. Ballios' project focuses on developing and controlling the process in which stem cells produce rod and cone photoreceptors.
Katherine Uyhazi – $75,000
University of Pennsylvania
“Investigating the heterogeneity of photoreceptor precursor cells for retinal regeneration”
Dr. Uyhazi is seeking to better understand the different stages of photoreceptor precursor cells during development in order to identify the optimal cell type for cell-based therapies, including transplantation. Each novel subpopulation of photoreceptor precursor cells will be tested for their integration into the retina, and if they can increase photoreceptor cell generation.
Ajoy Vincent – $126,715
University of Toronto and The Hospital for Sick Children, Toronto
“A Transgenic Mouse Model for an Orphan Hereditary Macular Dystrophy”
Dr. Vincent is leveraging a gene discovery resulting in the creation of a new mouse model from an earlier Foundation award to characterize this mouse model, which lacks a key enzyme needed to breakdown fatty acids and is expected to show a reduction in protective Omega-3 fatty acids and buildup of toxic byproducts. He will follow disease progression in the model to understand disease mechanism and to follow a treatment approach using different dietary supplements to improve retinal health and prevent or slow disease progression.
Alessia Amato – $94,296
Ospedale Pediatrico Bambino Gesù
“Intersession repeatability and longitudinal follow-up in patients with retinitis pigmentosa undergoing full-field two-color dark-adapted perimetry and light-adapted perimetry with an unmodified and commercially available device”
Dr. Amato will address the need for rod-specific endpoints for conducting evaluations and studies of disease progression and therapy efficacy in people with retinitis pigmentosa and related conditions. She will use 2-color dark-adapted perimetry (2cDAP), a test that utilizes red and blue stimuli to evaluate the function of rods and cones. Validation of this method in a large cohort of patients is a critical step before regulatory agencies can accept it as an outcome measure.
Artur V. Cideciyan – $100,000
University of Pennsylvania
“Multi-luminance Chromatic Visual Acuity (MLCVA)”
Dr. Cideciyan and his team will completely re-evaluate the photoreceptor origins of visual acuity (VA) measurements in a wide range of inherited retinal diseases and disease stages, as well as in intermediate dry AMD. They will develop a multi-luminance chromatic visual acuity (MLCVA) protocol that can be used in the clinic with a combination of commercially available equipment and publicly available tools.
Yi-Zhong Wang – $100,000
Retina Foundation of the Southwest
“Deep Learning Assisted Measurements of Retinal Layer Metrics as Biomarkers for Progression in Retinitis Pigmentosa”
Dr. Wang will develop new, more robust deep learning models to predict visual field sensitivity from OCT scans and other types of retinal images. His team will conduct studies on the relationship between visual field sensitivity and retinal layer metrics from 50 patients with retinitis pigmentosa. The models will be valuable for reducing the variability of outcome measures in inherited retinal disease clinical trials, thereby reducing the number of patients needed, and the duration of trials required, to determine a therapeutic effect.
Sheldon Rowan – $199,998
Tufts University
“Diet, microbiome, and genetic therapies to target drusenogenic pathways in an atrophic AMD model”
Dr. Rowan and Dr. Singh's laboratories have teamed together to investigate whether lipophagy, a cellular cleanup process to declutter cells, can be enhanced to slow AMD progression. By activating lipophagy using genetic tools, gene therapy, and dietary interventions, the team aims to relieve cellular stress and prevent photoreceptor cell death. Additionally, they’re testing acarbose, an FDA-approved compound with dual benefits—anti-AMD and pro-lipophagy. This work not only advances our understanding of AMD but also offers hope for preserving vision in affected individuals.
Glenn Yiu – $200,000
University of California, Davis Health
“Exploring mechanisms of drusen biogenesis in nonhuman primates using integrative multiomics”
Dr. Yiu and Dr. Chen will study aged rhesus macaques to understand how drusen deposits form in the eye, which are linked to vision loss in AMD. By analyzing gene activity and blood changes, they aim to identify new drug targets and test treatments, potentially leading to better dietary recommendations for AMD patients.
Cell and Molecular Mechanisms
David Matthew Gamm – $100,000
University of Wisconsin, Madison
“Elucidating the human MYO7A interactome to improve understanding of Usher syndrome type 1B and develop potency assays”
Dr. Gamm aims to understand the molecular causes of Usher syndrome type 1B (USH1B) and to develop a test to help create and evaluate treatments. His study will focus on how genetic changes in the MYO7A gene affect human retinal organoid-derived photoreceptor cells and aims to confirm the location of the MYO7A protein, identify its protein partners, and create a reliable test for quality control of new therapies.
Brian Link – $100,000
Medical College of Wisconsin
“Investigating cell-type specific Myo7A functions and protein interactions using zebrafish”
Dr. Link and his team will uncover the vital roles of MYO7A in various retinal cell types to better understand Usher syndrome type 1B (USH1B). This research team has developed a pioneering zebrafish model that mirrors the retinal degeneration seen in USH1B patients.
Jillian Pearring – $100,000
University of Michigan
“Investigate whether sequestering overly active Arl3-GTP can rescue photoreceptor defects in a mouse model of RP2”
Dr. Pearring aims to determine whether gene therapies sequestering overactive Arl3-GTP can restore photoreceptor function, as well as determine the therapeutic window of treatment to restore visual function in an inherited retinal disease mouse model (RP2null) which exhibits overactive Arl3-GTP. This will provide insights into the impact of photoreceptor nuclear mislocalization on retinal health, advance knowledge of RP2 and ARL3 mutation pathobiology, and identify potential therapeutic targets for inherited blindness.
Eric Pierce – $100,000
Massachusetts Eye and Ear
“Circulating Biomarkers of Retinal Degeneration”
Dr. Pierce will search for RNA molecules released by the retina into the bloodstream that could serve as biomarkers for inherited retinal diseases. The RNA molecules are carried in the blood inside tiny membrane-bound extracellular vesicles (EVs). EVs play a crucial role in cell-to-cell communication, helping to transfer information and materials between cells. His team will study these molecules in patients with moderate to severe vision loss to develop faster, non-invasive ways to measure treatment effectiveness in clinical trials.
Miranda Scalabrino – $100,000
The Medical College of Wisconsin
“Understanding degeneration and rescue in RP1 retinitis pigmentosa”
Dr. Scalabrino will investigate how mutations in the RP1 gene cause vision loss in retinitis pigmentosa (RP), using a new mouse model to study retinal cell changes over time and test gene therapy. Her team will also compare findings across different RP types to uncover shared disease mechanisms that could lead to treatments benefiting a broader group of patients.
Clinical: Structure & Function
Ramkumar Sabesan – $100,000
University of Washington
“Early detection of photoreceptor dysfunction in retinitis pigmentosa using optoretinography”
Dr. Sabesan will use an advanced imaging technique called optoretinography to detect early signs of retinal degeneration in children and adults with RP. By identifying subtle changes in how photoreceptors respond to light, his team hopes to discover new biomarkers that can track disease progression and guide personalized treatment strategies.
Gene Therapy
Qin Liu,– $100,000
Massachusetts Eye and Ear
“Development of precise correction of c.2299delG mutation in the USH2A gene.”
Dr. Liu and her team will investigate the potential for using prime editing to correct the c.2299delG mutation in the USH2A. Traditional gene therapy is difficult due to the large size of the USH2A gene and the cargo capacity of delivery systems (viruses). Prime editing offers a precise method to correct single gene mutations. This research effort will focus on the feasibility of delivering prime editing components via an adeno-associated virus (AAV) to repair this mutation in a humanized mouse model of USH2A disease.
Rob Collin,– $85,798
Radboud University Medical Center
“EYS-OPEN: developing a molecular therapy for EYS-associated retinal disease”
Dr. Collin will design a new molecular therapy for EYS-related retinal disease by creating shortened versions of a large, complex protein that still functions properly. This approach could overcome current limitations in gene therapy for large genes and pave the way for new treatments for patients with EYS mutations.
Genetics
Kinga Bujakowska – $100,000
Massachusetts Eye and Ear
“Evaluating consequences of rare variants found in IRD patients on splicing and gene expression.”
Dr. Bujakowska will analyze thousands of unclear genetic variants found in IRD patients using advanced splicing and gene expression assays. Her goal is to reclassify many of these variants as disease-causing, improving diagnosis rates and expanding access to gene therapies and clinical trials.
Jason Comander – $100,000
Massachusetts Eye and Ear, Harvard Medical School
“Using functional assays to rapidly assess the pathogenic significance of missense variants in IRD patients”
Dr. Comander will develop high-throughput lab tests to determine which genetic changes found in IRD patients are truly disease-causing. By identifying harmful variants more efficiently, his work will improve genetic testing accuracy and help patients and clinicians make better-informed decisions about care and treatment options.
Elfride De Baere – $33,333
Ghent University
“MULTIOMICS-CHM: A multi-omics framework to elucidate CHM variant effects and disease variability in choroideremia”
Dr. De Baere will investigate why choroideremia can vary significantly in severity among individuals carrying variants in the same disease-causing gene. Using advanced multi-omics technologies and patient-derived retinal cells, her team aims to identify genetic and molecular factors that influence disease progression, improve interpretation of uncertain CHM variants, and support more precise diagnosis, genetic counseling, and future therapeutic development.
Manuel Irimia – $100,000
Centre for Genomic Regulation
“Identification, validation and modulation of uncharacterized splicing mutations in inherited retinal diseases”
Dr. Irimia is seeking to uncover novel genetic variants that cause splicing misregulation, leading to IRDs. This project aims to identify new variants in IRD genes that change the way the different pieces of a gene are combined together to make a functional protein. Potential variants identified through genetic sequencing will be tested in the lab to see if their presence has a detrimental effect on gene production and retinal cell biology.
Novel Medical Therapies
Ayyagari, Radha – $100,000
The Regents of the University of California; University of California San Diego.
“Understanding the Molecular Pathology of arRP Caused by Mutations in 5'UTR of TMEM216 and Advancing Therapeutic Development”
Dr. Ayyagari will study how mutations in the TMEM216 gene lead to vision loss in a rare form of RP by disrupting tiny cellular structures called cilia. Her team will test whether boosting this gene in patient-derived cells and mouse models can restore cilia and offer a new path toward gene therapy or drug development.
Astra Dinculescu – $12,000
University of Florida
“Maintenance of Swine Models of Usher Syndrome Type 3”
Dr. Dinculescu will maintain USH3 pig models to study vision and hearing loss.
Janet R. Sparrow – $100,000
Columbia University
“Vitamins E, C and Zinc: Therapeutics for ABCA4-disease (STGD1)”
Dr. Sparrow will conduct preclinical (mouse) studies to test the effectiveness of the AREDS antioxidant formula to treat ABCA4-associated disease (Stargardt disease or STGD1). The AREDS2 supplement formula is frequently prescribed for people with age-related macular degeneration. Her team hopes to demonstrate the protective effect of the AREDS2 formula on photoreceptor cell loss, reduce toxic protein accumulation, and reduce the production of toxic compounds.
Yannis Paulus – $160,465
Johns Hopkins University
“Development of Rabbit Models of Eyes Shut Homolog-Associated Retinal Degeneration”
Dr. Paulus and his team will develop two rabbit models of EYS each with a common mutation found in patients. (Mutations in EYS are a common cause of RP.) They propose to do so using gene and base editing tools to create two lines of mutant rabbits that will be phenotypically characterized by using non-invasive functional and imaging methods that are already in place in their labs.
Bhanu Telugu – $215,376
University of Missouri
“Generation and characterization of a novel porcine model of Choroideremia”
Dr. Telugu is focused on creating a novel porcine model for choroideremia. His study aims to replicate the pathogenesis of human choroideremia by inactivating the CHM gene in pigs. A clinically relevant minipig model will aid in the development of validated, reproducible, safe, and effective treatments for human patients.
Erwin van Wijk – $144,114
Radboud University Medical Center Nijmegen
“Generation and characterization of a porcine model for Usher syndrome type 2c”
Dr. van Wijk will generate a multifunctional humanized knockout pig model for Usher syndrome type 2C (USH2C) that can be used for basic and translational research. A humanized porcine model for USH2C can enable the assessment of therapeutic strategies currently under development. The model will help identify the optimal delivery routes and dosing and can enable toxicological assessment of therapeutic compounds prior to entering clinical trials.
Frauke Coppieters – $186,147
Ghent University
“Elucidating Disease Heterogeneity and a Novel Therapeutic Approach for PRPH2-related Inherited Retinal Disease”
Dr. Coppieters will investigate why symptoms vary widely among people with PRPH2-related eye diseases. By studying protein levels and genetic factors in patient cells, she aims to understand these differences and test a new treatment approach using antisense oligonucleotides to correct genetic issues, potentially offering new therapeutic options.
Breandan Kennedy – $139,841
University College Dublin
“PRPH2: Understanding Biology, Disease Variants & Environmental Modifiers, Advancing Therapeutics”
Dr. Kennedy’s team will study how mutations in PRPH2 affect photoreceptors to better understand how the disease begins and progresses. They will also create “humanized” zebrafish models carrying specific patient PRPH2 changes to assess how these changes affect vision and to test potential treatments tailored to patients. Finally, they’ll examine how factors like cigarette smoke, bright light, and aging by-products influence disease progression, and share findings with patients, clinicians, and the broader community.
Muayyad R. Al-Ubaidi – $160,469
University of Houston
“Mutation-independent therapeutic strategy for peripherin 2 associated diseases”
Dr. Al-Ubaidi aims to create a new treatment for diseases linked to the PRPH2 gene by using small RNA molecules to switch off the mutated gene and replace it with a healthy one in animal studies.
Andrew Goldberg – $147,809
Oakland University
“Natural history and AAV-mediated interventions for dominant negative and haploinsufficient mouse models of PRPH2-associated disease.”
Dr. Goldberg will conduct a natural history study on two strains of mice with different PRPH2 mutations. One mouse strain has a loss-of-function mutation, meaning there is a mutated copy of the gene that is not working properly and the other healthy copy cannot make up for the loss. The second mouse strain has a dominant negative mutation of the gene, resulting in a protein that interferes with normal function. His team will test whether AAV-mediated delivery of PRPH2 can stop or slow disease progression. The characterization of the mice to understand how these mutation types affect PRPH2-related disease will be a resource for other researchers developing therapies for this disease.
Krzysztof Palczewski – $166,700
The Regents of the University of California, Irvine
“Precision genome editing in humanized mice expressing mutant peripherin-2”
Dr. Palczewski aims to create a mouse carrying the human PRPH2 gene in place of the mouse gene, which will allow researchers to test genome editing therapies for PRPH2-associated retinal diseases.
Jason Comander – $166,667
Massachusetts Eye and Ear
“A Comprehensive Approach to Determining the Genetic Causality of PRPH2-Associated Retinal Degeneration”
Dr. Comander will investigate which of the 6000+ genetic changes in the PRPH2 gene cause vision loss. Using advanced cell tests and zebrafish models, he aims to identify problematic gene variants and understand how they lead to retinal degeneration, ultimately improving patient diagnoses and treatments.
Yoshikazu Imanishi – $161,486
Indiana University
“Elucidating Pathophysiological Mechanisms and Advancing High-Throughput Drug Discovery in PRPH2-Related Retinal Dystrophies”
Dr. Imanishi will determine how mutations in PRPH2 affect protein trafficking and incorporation into the outer segment of photoreceptors. This will improve our understanding of disease processes and aid in the identification of new therapies. His team will screen small drug-like molecules to find potential treatments and examine how mutations in the PRPH2 gene differently effect rods and cones using frog photoreceptors.
Qin Liu – $155,450
Massachussetts Eye and Ear
“Development of HITI-based mutation independent therapeutic approach for PRPH2-associated inherited retinal diseases”
Dr. Liu will test a next-generation gene-editing method called HITI to treat PRPH2-related IRDs by inserting a healthy PRPH2 gene into its natural spot in the DNA, while switching off the faulty copy that causes vision loss. The team will first fine-tune the HITI components in cells, then deliver them with viral vectors to “humanized” mice carrying the human PRPH2 gene to see if retinal structure and function improve. Success would identify the best HITI recipe and provide preclinical evidence that this strategy can prevent or reverse vision loss from PRPH2 mutations, while clarifying safety, risks, and next steps toward clinical development.
Jeremy Kay – $513,500
Duke University
“Defining the underlying causes of retinal degeneration in CRB1 disease”
Dr. Kay and his team hypothesize that loss of cell-cell connections in the outer retina underlies RP-like aspects of CRB1-associated disease, while loss of junctions between embryonic progenitors underlies LCA-like aspects. Dr. Kay's team will use multiple models to identify primary site(s) of damage caused by CRB1 dysfunction, and explore strategies to fix the damage. They will also work to determine whether these cellular features can be imaged in animals and in patients and be used as an endpoint in future clinical trials.
Gene Therapy
Dror Sharon – $563,190
Hadassah-Hebrew University Medical Center
“In vivo retinal RNA editing using the cellular adenosine deaminase acting on RNA (ADAR) enzyme”
Dr. Sharon and his team will advance 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 serves as molecular editors to correct a specific mutation in RNA. The technique is like gene editing but instead of editing the gene, this technique edits RNA, which is the transcript or message read from the gene to produce protein.
Alison Hardcastle – $498,167
University College London Institute of Ophthalmology
“Investigating the novel disease mechanism for autosomal dominant retinitis pigmentosa type 17 and exploring therapeutic approaches”
Dr. Hardcastle and her team aim to unravel the molecular basis of RP17, a form of retinal disease caused by structural genomic variants, a new genomic mechanism leading to autosomal dominant retinitis pigmentosa. Their projects will contribute to the resolution of elusive gene mutations causing retinal diseases, as well as other extraretinal genetic diseases.
Alberto Auricchio – $343,000
Fondazione Telethon
“microRNA-based therapy of inherited retinal diseases (RetMir)”
Dr. Auricchio and a team of co-investigators through their program, called “RetMir”, are identifying microRNAs and microRNA antagonists or ‘sponges’ that have a neuroprotective effect on the retina in order to provide a one-fits-all, mutation-independent therapeutic approach for inherited retinal degenerations.
Silvia Finnemann – $515,718
Fordham University
“A novel, rationally designed pharmacological approach to countering vision loss in a preclinical model of MERTK-associated Retinitis Pigmentosa”
Dr. Finnemann and her team will develop a new treatment approach for MERTK-associated retinitis pigmentosa by investigating the role of inflammation in disease progression and testing approved anti-inflammatory drugs in preclinical models, the team aims to identify a targeted therapy that could slow retinal degeneration and advance more rapidly toward clinical use than traditional gene therapy approaches.
Isabelle Audo – $485,080
Fondation Voir et Entendre
“Fighting Usher syndrome type IB blindness: disease pathogenesis and treatment solutions”
Dr. Audo and her team will focus on Usher Syndrome type 1B. With access to a large USH1B patient population, they will define onset, progression and severity of photoreceptors cell death; contributions of rods and cones; and and seek specific biomarkers for Usher disease severity and progression. They will also generate new models (mouse and retinal organoids) to test potential therapies for MYO7A-related retinal organoids) to test potential therapies for MYO7A-related retinal degeneration.
Kristy Lee – $50,000
University of North Carolina
“Salary support for a biocurator to continue the variant curation effort of the ABCA4 gene through a Variant Curation Expert Panel Protocol that will be deposited into the ClinVar database.”
Dr. Lee will continue the ABCA4 gene curation effort started by the ABCA4 Variant Curation Expert Panel, which is depositing new ABCA4 gene variants into the ClinVar database. This work will help to identify individuals appropriate for clinical trial interventions as well as gene therapy treatment once approved by FDA.
Lori Sadler Sullivan – $24,998
UTHealth Houston
“RetNet Curation”
Dr. Sullivan is responsible for the management and curation of the RetNet database. RetNet provides tables of genes and loci causing inherited retinal diseases to the research community.
