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Funded Grants and Awards for Fiscal Year 2019 (July 1, 2018-June 30, 2019)

ALAN LATIES CAREER DEVELOPMENT AWARD PROGRAM

Howard Hughes Medical Institute Fellowship Award

grantee

Sean Wang

Harvard Medical School

“Investigating the role of microglia as a therapeutic target for inherited retinal degeneration”
$43,000

Dr. Wang is working to determine how expression of a known microglia-associated protein affects photoreceptor survival and visual function in RP. The findings revealed by this investigation will help clarify how microglia contribute to RP and better inform their potential as candidates for gene therapy.


Diana Davis Spencer Clinical Fellowship Awards

grantee

Marco Nassisi, MD

Foundation Voir et Entendre

“Rod-Cone and cone-rod dystrophies: phenotype-genotype correlation and progression modeling applied to mutations in RPGR”
$65,000

Dr. Nassisi is conducting a retrospective analysis of collected data, including functional and structural parameters to model disease progression, in people with X-linked retinitis pigmentosa caused by RPGR mutations. His goal is to better understand how different mutations in the gene affect vision loss. Ultimately, he wants to determine endpoints that can be used in clinical trials of gene therapies and other emerging treatments.


grantee

Peter Zhao, MD

University of Michigan

Predicting individual patient outcomes in Stargardt disease using a deep learning approach”
$65,000

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

grantee

Rachel Huckfeldt, MD PhD

Massachusetts Eye and Ear Infirmary

 “Mechanisms and novel therapies for cystoid macular edema associated with retinitis pigmentosa.”
$75,000

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

grantee

Shyamanga Borooah, MBBS MRCP (UK) MRCSEd FRCOphth PhD

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.”
$75,000

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.


grantee

Nieraj Jain, MD

Assistant Professor, Vitreoretinal Surgery and Diseases (Retina), Emory Eye Center

 “Redefining the pattern dystrophies through clinical and animal studies of a novel pigmentary maculopathy”
$75,000

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.


grantee

Rodrigo Matsui-Serrano, MD

Ophthalmological Institute CONVAL

 “Clinical and Molecular characterization of Mexican patients with inherited retinal degenerations”
$75,000

Dr. Matsui-Serrano is increasing the knowledge about people in Mexico with inherited retinal diseases through state-of-the-art genetic tests, and analyses of retinal function and structure. He is creating a registry of people who may be eligible for clinical trials of emerging therapies taking place around the world.

Elizabeth Anderson Career Development Award

grantee

Matthew Simunovic MB BChir PhD FRANZCO

University of Sydney

“Structure, Function, Gene Therapy and Surgery in Retinal Dystrophies”
$75,000

Dr. Simunovic is identifying and characterizing patients from Australia with inherited retinal diseases — including those with choroideremia, X-linked retinitis pigmentosa, and achromatopsia — for participation in Phase II/III clinical trials for gene therapies taking place in Europe and the United States.


grantee

Mandeep Singh, MD PhD

Johns Hopkins University

“Photoreceptor transplantation as a treatment for retinal degenerative diseases”
$75,000

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.


grantee

Vincent Ajoy, MBBS, MS

The Hospital for Sick Children

“Genetics of Hereditary Macular Dystrophies”
$75,000

Dr. Vincent and his colleagues are using next-generation screening technologies and conducting functional studies to identify new genetic mutations associated with macular dystrophies, inherited retinal conditions that cause central vision loss. Identifying the new mutations will enable researchers to diagnose more patients and find targets for therapy development.


grantee

Paul-Yang, MD PhD

Oregon Health & Science University

“Neuroprotective Mechanisms of Mycophenolate Mofetil in Retinitis Pigmentosa”
$75,000

Dr. Yang is receiving a career development award to evaluate two FDA-approved neuroprotective drugs — mycophenolate mofetil and methotrexate — in a mouse model of retinitis pigmentosa caused by PDE6B mutations.


Ted and Elaine Welp Enhanced Career Development Award

grantee

Jason I. Comander, MD PhD

Associate Director, Inherited Retinal Disorders Service, Massachusetts Eye and Ear; Assistant Professor, Ophthalmology, Harvard Medical School

“Improving Diagnosis of Retinitis Pigmentosa by Efficient Characterization of Potentially Pathogenic DNA Variants”
$170,000

Dr. Comander is conducting studies to identify mutations in the gene rhodopsin that cause retinitis pigmentosa. His primary goal is to gain a better understanding of which variants in rhodopsin lead to vision loss. His work will also help him and other researchers create disease models for investigating causes and potential therapies for vision loss from rhodopsin mutations.


INDIVIDUAL INVESTIGATOR RESEARCH AWARD PROGRAM

Cellular Molecular Mechanism of Disease

grantee

James Handa, MD

Johns Hopkins University

“Identifying RPE Subsets that Drive Dry AMD Progression”
$100,000

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.


grantee

Jeremy Kay, PhD

Duke University

“Molecular and cellular strategies to rescue visual impairment in CRB1 disease”
$100,000

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.


grantee

Martha Neuringer, PhD

Oregon Health & Science University

“Nonhuman Primate Model of Usher Syndrome”
$99,722

Dr. Neuringer and her colleagues are using the gene-editing technique CRISPR/Cas9 to develop a large animal model of Usher type 1B, which is caused by mutations in the gene MYO7A.  She believes that these animals will exhibit vision loss and will therefore be useful for testing potential Usher 1B therapies.


grantee

David Zacks, MD PhD

University of Michigan

“Modulating Autophagy Flux: A Novel Mechanism for Treatment of ADRP Secondary to Rhodopsin Misfolding Mutations”
$99,973

Dr. Zacks and his colleagues are investigating how a misfolded rhodopsin protein impairs autophagy — a natural degradation process for un-needed cellular materials. Disruption of autophagy leads to photoreceptor death and vision loss.


Clinical: Structure and Function Relationships

grantee

Sina Farsiu, PhD

Duke University

“Automated Software for Analysis of Adaptive Optics Scanning Laser Ophthalmoscopy Images”
$99,999

Dr. Farsiu’s goal is to develop and freely distribute software that efficiently and effectively analyzes the enormous amount of data generated by the advanced retinal imaging system known as the adaptive optics scanning laser ophthalmoscope (AOSLO). This automated tool will help researchers and doctors around the world provide quicker and more accurate diagnoses for patients and better detect vision changes for participants in clinical trials of emerging therapies.


grantee

Jessica I. W. Morgan, PhD

University of Pennsylvania

“Adaptive optics structural and functional outcome measures for assessing inherited retinal disease”
$100,000

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.


grantee

Ramkumar Sabesan, PhD

University of Washington

“Imaging macular photoreceptor function in RP and normal controls using an optoretinogram”
$100,000

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.


grantee

Yi-Zhong Wang, PhD

Retina Foundation of the Southwest

“Application of Deep Machine Learning for Identifying Structural and Functional Deficits in Retinitis Pigmentos”
$100,000

Mr. Wang will use recombinant AAVs to determine how CX3CL1 expression affects photoreceptor survival and visual function in RP mice.


Gene Therapy

grantee

Alberto Auricchio, MD

University “Federico II” (Italy)

Homology-independent targeted integration for gene therapy of dominant retinitis pigmentosa”
$100,000

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.


grantee

Leah Byrne, PhD

University of Pittsburgh

High throughput development of cell-specific AAV variants and promoters on a single cell level”
$100,000

Dr. Byrne is creating a toolbox of efficient and specific viral capsids and promoters for every retinal cell type, and make it available to the research community, thereby enhancing and expediting gene-therapy development for retinal diseases.


grantee

John Flannery, PhD

Associate Director, Helen Wills Neuroscience Institute, University of California, Berkeley

“Optogenetic Vision Restoration”
$100,000

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.


grantee

Qin Liu, MD PhD

Massachusetts Eye and Ear Infirmary

“Development of CRISPR/Cas9-based genome editing approaches for RP1 associated autosomal dominant retinitis pigmentosa”
$100,000

Mutations in the gene RP1 are a leading cause of autosomal dominant retinitis pigmentosa (RP). Dr. Liu is developing a gene-editing therapy, using CRISPR/Cas9 technology, to shut down a relatively common RP-associated mutation in RP1.


grantee

Jan Wijnholds, PhD

Leiden University

“Advance Gene Therapy Research for CRB1-related RDDs”
$100,000

Dr. Wijnholds is conducting preclinical studies of gene therapy for CRB1-related retinal degeneration (both RP and LCA)


grantee

David Williams, PhD

University of California, Los Angeles

“Gene Editing of the Usher 1B gene”
$100,000

Dr. Williams is using an innovative gene-editing technique called CRISPR/Cas9 for correcting a mutation in the gene MYO7A, which causes Usher syndrome type 1B. MYO7A is a large gene, making it difficult to replace with conventional (viral) gene replacement therapy.


Genetics

grantee

Isabelle Audo, MD PhD

Group Leader, Department of Genetics, Institut de la Vision, Consultant, Reference Centre for Rare Diseases at CHNO, Quinze-Vingts

“Unraveling missing gene defects underlying extensively investigated IRDs through a comprehensive pipeline including disease modeling in patient-derived retinal organoids”
$100,000

Dr. Audo and her team are using whole genome sequencing and subsequent tests in patient cells to identify their novel gene mutations.


grantee

Frans Cremers, PhD

Professor, Department of Human Genetics, Radboud University Nijmegen Medical Centre

“Deciphering the mechanisms underlying variable expression and non-penetrance of Stargardt disease”
$100,000

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.


grantee

Ido Perlman, PhD

Technion – Israel Institute of Technology

“Mapping Inherited Retinal Degenerative Diseases (IRDD) in the Israeli Population”
$100,000

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.


grantee

Kent Small, PhD

Molecular Insight Research Foundation

 “North Carolina Macular Dystrophy (NCMD): Finding All of the Mutations”
$100,000

Dr. Small is aiming at a better clinical and genetic characterization of NCMD. This study follows his reporting of gene mutations with unusual disease mechanism and understanding the underlying mutations may contribute to understanding other inherited retinal diseases


grantee

Douglas Vollrath, MD PhD

Associate Professor, Genetics, Stanford University School of Medicine

“TYRO3 as a modifier of MERTK-associated photoreceptor degeneration”
$100,000

Dr. Vollrath and his collaborators have evidence that the gene TYRO3 can modify disease severity in retinitis pigmentosa (RP) caused by mutations in the gene MERTK. His research is now advancing the understanding of TYRO3 and its potential as a therapeutic target to save vision.


Novel Medical Therapy

grantee

John D. Ash, PhD

Associate Professor, Ophthalmology, University of Florida College of Medicine

“Developing AAV vectors for drug-regulated expression of neuroprotective factors to induce broad spectrum protection of photoreceptors and RPE”
$100,000

Dr. Ash is developing human-engineered viruses to allow regulation of the expression of disease-slowing, vision-saving proteins to the retinas of people with a variety of inherited retinal degenerations.


grantee

Sandro Banfi, MD

Telethon Institute of Genetics and Medicine TIGEM

“MicroRNA miR-204, a new potential therapeutic tool  for inherited retinal dystrophies”
$100,000

Dr. Banfi is investigating micro-RNAs — part of a gene’s messaging system — in both small and large animal models as a potential tool toward therapy for inherited retinal diseases. His goal is to alter the mutated gene’s activity to slow or halt vision loss.


grantee

Sandro Banfi, MD

Telethon Institute of Genetics and Medicine TIGEM

“AAV-Sponge-mediated modulation of microRNA-181a/b: a potential therapeutic approach for Inherited Retinal Disease”
$100,000

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.


grantee

Paul S. Bernstein, MD PhD

Professor, Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah

“VLC-PUFA Therapeutics for Dry AMD and Dominant Stargardt Disease (STGD3)”
$100,000

Dr. Bernstein is working with lipid chemistry specialists at the University of Utah to develop potential VLC-PUFAs treatments to be tested in the lab. Earlier studies suggest that VLC-PUFAs may also be beneficial to people with dry age-related macular degeneration.


grantee

Daniel Lipinski, MSc DPhil

Medical College of Wisconsin

“Maintaining proteostasis to prevent photoreceptor degeneration in retinal disease”
$100,000

Dr. Lipinski is developing a gene therapy to prevent the degradation of proteins that leads to the death of cones, the photoreceptors that provide central vision, vision in lighted conditions, and the ability to read and drive. Such a treatment has the potential to help people with retinitis pigmentosa, Leber congenital amaurosis, and Usher syndrome by working independent of the patient’s gene mutation.


grantee

Sylvia B. Smith, PhD

Augusta University

“Targeting Sigma 1 Receptor in Retinitis Pigmentosa”
$100,000

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


grantee

W. Clay Smith, PhD

University of Florida

“Enhancing Metabolism in Photoreceptors with a Modified Arrestin to Treat Retinal Degeneration”
$100,000

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.


grantee

Stephen Tsang, MD PhD

Columbia University

“Gene Editing to Repair Mutations in adRP”
$100,000

Dr. Tsang's research will evaluate the therapeutic potential of gene-editing of a Rhodopsin mutation to restore vision in adRP with this specific mutation


Regenerative Medicine

grantee

Trevor McGill, PhD

Oregon Health and Science University

“Inhibition of retinal microglia to promote survival of transplanted RPE cells”
$100,000

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.


grantee

Thomas Reh, PhD

Director, Neurobiology and Behavior, Department of Biological Structure, University of Washington School of Medicine

 “Reprogramming Muller Glial Cells with Ascli to Regenerate Adult Mouse Retina”
$98,767

Dr. Reh is conducting lab studies to determine how photoreceptors can be regenerated from Muller glial — a process, if perfected in humans, could restore vision lost to advanced diseases such as retinitis pigmentosa.


grantee

Ruchira Singh, Ph.D.

University of Rochester

“Engineering a human model of outer blood retinal barrier-vascular complex from hiPSCs”
$99,777

Dr. Singh is using human induced pluripotent stem cells — stem cells derived from a person’s skin or blood — to create a layer of retinal vascular tissue known as the blood-retina barrier complex. This tissue is enabling her to study the onset of retinal disease in a human model, explore drug-delivery approaches, and investigate transplantation therapies for people with retinal diseases such as age-related macular degeneration.


Elusive Gene Initiative

grantee

Radha Ayyagari, PhD

Associate Professor, Ophthalmology, Shiley Eye Center, University of California, San Diego

“Identification of the elusive genetic causality of inherited retinal degenerations (IRDs)”
$500,000

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

grantee

Shannon E. Boye, PhD

Associate Professor, Department of Ophthalmology, University of Florida

“Dual AAV vector-mediated therapy for MyosinVIIa Usher syndrome (USH1B)”
$100,000

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.

Gund Harrington Scholar


grantee

David Gamm, MD PhD

Associate Professor, Ophthalmology and Visual Sciences, University of Wisconsin-Madison

“Bioengineering Micro-Patterned Scaffolds for Human Pluripotent Stem Cell-Based Photoreceptor Replacement Therapies”
$483,410

Dr. Gamm is developing transplantation therapies derived from stem cells to replace lost photoreceptors, the cells that make vision possible, and supportive cells called retinal pigment epithelium. His work includes the development of a scaffold that promotes photoreceptor organization and survival, and is biocompatible, biodegradable, and readily transplantable into the subretinal space.

Gund Harrington Scholar


grantee

Richard Kramer PhD

University of California, Berkeley

“Assessing in vivo functional restoration of retinal light responses by BENAQ, a photoswitch drug candidate for retinitis pigmentosa
$90,000

Dr. Kramer has identified a potential drug that can restore light sensitivity to a retina, which has lost all of its photoreceptors. His goal is to develop an optimal formulation of the molecule and identify an optical imaging technology to more accurately measure the drug’s efficacy.$90,000

Gund Harrington Scholar


grantee

Zheng-Rong Lu, PhD

Case Western Reserve University

“Nonviral Gene Therapy for Stargardt Disease”
$167,551

Dr. Lu will develop smart lipid/DNA nanoparticles to treat Stargardt disease.

Gund Harrington Scholar


grantee

Shigemi Matsuyama, DVM PhD

Case Western Reserve University

“High Throughput Screening (HTS) of Cyto-protective Small Molecules Protecting Retinal Cells from Bax and Bak”
$90,000

Dr. Matsuyama is screening molecules to identify those that can inhibit retinal cell death and potentially treat a wide range of retinal degenerative diseases.

Gund Harrington Scholar


grantee

Konstantin Petrukhin, PhD

Columbia University

“Pharmacological treatments for Stargardt disease”
$369,235

Dr. Petrukhin' s overall goal of this project is to develop a small molecule therapy that reduces the accumulation of toxic lipofuscin byproducts to benefit patients with Stargardt disease

Gund Harrington Scholar


grantee

Krishanu Saha, PhD

University of Wisconsin-Madison

Gene Editing Nanomedicines to Correct Pathogenic Mutations in the Retina”
$179,043

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 Projects

grantee

David Gamm, MD PhD

Associate Professor, Ophthalmology and Visual Sciences, University of Wisconsin-Madison

“Test of readthrough drug treatment for UGA PTC in the USH1B gene
$111,000

Dr. Gamm will establish the feasibility of using readthrough drugs as an interim treatment for a subset of mutations causing Usher 1B.


grantee

Ben Philpot, PhD

University of North Carolina

“Building IMPG2 Models Systems to Test Novel Therapeutics”
$75,000

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.


grantee

José-Alain Sahel, MD

Professor and Chairman, Ophthalmology, University of Pittsburgh School of Medicine, Professor, Ophthalmology at Sorbonne Université, Paris

“Restoration of Visual Function through Cone Reactivation”
$310,695

Dr. Sahel is developing an optogenetic gene therapy based on an adeno-associated virus to reactive cones in people with advanced retinal degeneration from conditions such as retinitis pigmentosa. His goal is to launch a clinical trial of the emerging treatment.


grantee

David Williams, PhD

University of California, Los Angeles

“Test of readthrough drug treatment for UGA PTC in the USH1B gene.”
$89,914

Dr. Williams will establish the feasibility of using readthrough drugs as an interim treatment for a subset of mutations causing Usher 1B.


PROGRAM PROJECT AWARD/RESEARCH CENTER PROGRAM

Program Director

Rando Allikmets, PhD

Columbia University

“Integrated analysis of genetic and clinical data for rational clinical trials of Stargardt disease”
$496,691

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.


Program Director

Frans Cremers, PhD

Professor, Department of Human Genetics, Radboud University Nijmegen Medical Centre

“Splice modulation to treat inherited retinal diseases”
$499,793

Dr. Cremers is leading a team of scientists to investigatie defects in messenger RNA (mRNA) that can lead to inherited retinal disease, and potential therapeutic approaches, such as antisense oligonucleotides, to correct mRNA defects.


Program Director

Jacque Duncan, MD

Professor of Clinical Ophthalmology, Beckman Vision Center, University of California, San Francisco

“Characterization of existing and newly developed models of Usher Syndrome”
$498,174

Drs. Duncan and Carroll are leading a multi-discipline team of scientist to  develop and investigate models of Usher syndrome to identify those that can be used to more effectively evaluate therapies for humans with the condition.  Retinal degeneration is subtle in most current Usher syndrome models


Program Director

Eric A. Pierce, MD PhD

William F. Chatlos Professor, Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School

“Platforms for Genetic Therapies of Inherited Retinal Degenerations Due to Mutations in Large Genes”
$500,000

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.


Program Director

Ronald Roepman, PhD

Radboud University Nijmegen Medical Center

“Targeting proteostasis and protein quality control in photoreceptors towards therapeutic intervention”
$360,583
Dr. Roepman and his colleagues have teamed together to study the proteostasis network in photoreceptors to better understand the activities and interactions of proteins, and how imbalances in proteostasis that lead to photoreceptor degeneration.


Penn Large Animal Model Translational and Research Center

grantee

Gustavo Aguirre, VMD PhD

Professor, Medical Genetics and Ophthalmology, School of Veterinary Medicine, University of Pennsylvania

 “Identification, Development and Molecular/Cellular Studies of New and Established Canine RD Models”
$175,000

Dr. Aguirre is identifying new canine models of retinal degeneration. He is also conducting genetic and molecular studies to better understand the conditions in new and existing disease models, His findings will help identify and validate potential targets for treatments.


grantee

William A. Beltran, DVM PhD

Associate Professor, Ophthalmology, School of Veterinary Medicine, University of Pennsylvania

 “Medical Therapy Service”
$270,000

Dr. Beltran is conducting studies to optimize currently tested therapies, and develop/test new therapeutic approaches in dog models of inherited retinal degeneration (RD). His work, some of which is in collaboration with biopharmaceutical companies, is directed at moving these therapies into clinical trials.


grantee

Tatyana Applebaum, PhD

University of Pennsylvania

 “Gene Expression/Molecular Pathways in Photoreceptor Cell Death/Survival”
$55,000

Dr. Applebaum is performing research to understand the genetic and molecular pathways that lead to retinal cell death and survival. His work applies to a variety of retinal degenerative diseases including RP and age-related macular degeneration.


FFB-supported Meetings and Workshops

2019 Cold Spring Harbor Lab – Vision: A Platform for Linking Circuits, Behavior & Perception

Cold Spring Harbor Laboratory

Vision: A Platform for Linking Circuits, Behavior & Perception to be held in Long Island, NY between June 12-26, 2019. The purpose of this course is to bring together students and faculty for in-depth and high-level discussions of modern approaches for probing how specific cell types and circuits give rise to defined categories of visual perception and behavior. It is also designed to address novel strategies aimed at overcoming diseases that compromise visual function.

2019 FASEB Science Research Conference on The Biology & Chemistry of Vision

Federation of American Societies for Experimental Biology

 2019 FASEB Science Research Conference on The Biology & Chemistry of Vision to be held in Steamboat Springs Colorado from June 23 to June 28, 2019. This conference is for scientists from academia and industry who study the biology of photoreceptor or RPE cells. The scientific program reflects the multi-disciplinary nature of this field, with presentations ranging from classical biochemistry to modern imaging approaches and molecular therapeutics. Specific session topics will range from photoreceptor physiology and RPE cell biology to the immune response to photoreceptor degeneration.

14th Scientific Meeting of the Association for Ocular Pharmacology and Therapeutics

Association for Ocular Pharmacology and Therapeutics

14th Scientific Meeting of the Association for Ocular Pharmacology and Therapeutics to be held in New Orleans, Louisiana from March 7 to March 10, 2019.


CLINICAL RESEARCH INSTITUTE PROJECTS

FFB-Clinical Research Institute, Clinical Consortium

“RUSH2A Natural History Study”

The Foundation's Clinical Consortium has launched a natural history study to gain a better understanding of how USH2A mutations affect the severity and progression of vision loss.  RUSH2A investigators at more than 20 international clinical sites, will use a variety of technologies to monitor changes in vision and retinal structure to document and analyze disease progression. 


My Retina Tracker

 “National Registry”

The Foundation has launched an online national registry for people with retinal degenerations.  Known as the My Retina Tracker Registry, the confidential secure registry will enable patients and their physicians to collect and update information about the patients' disease, genetic profile, and/or clinical care.