Funded Grants and Awards for Fiscal Year 2017 (July 1, 2016-June 30, 2017)

ALAN LATIES CAREER DEVELOPMENT AWARD PROGRAM


Diana Davis Spencer Clinical Fellowship Awards


Abalem, Maria Fernanda

University of Michigan

“EDI-OCT choroidal evaluation in patients with choroideremia”

$65,000

Dr. Abalem is investigating changes in the structure and function of the choroid, a layer of vasculature that is affected by inherited retinal diseases such as choroideremia. She is hoping to identify an endpoint (i.e., an outcome measure) that can be used to determine if an emerging therapy is saving vision in a clinical trial.

Wood, Terry

Oregon Health & Science University

“Evaluation of Retinal Function and Blood Flow in Usher Syndrome Using Optical Coherence Tomography Angiography (OCTA) and Microperimetry”

$65,000

Dr. Wood is investigating the correlation of macular blood flow with structural changes in the retinas of people with Usher syndrome. By gaining a better understanding of this relationship, he hopes to improve the ability to predict changes in vision and determine if improving blood flow may be a target for future vision-saving therapies.

Career Development Awards


Chavala, Sai

University of North Carolina at Chapel Hill

“In Vivo Reprogramming Strategies for Retinal Degeneration”

$75,000

Dr. Chavala is developing methods to reprogram cells into stem cell-like while they are in the eye, eliminating the need for cell transplantation for stem cell therapy.

Simunovic, Matthew

University of Sydney

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

$75,000

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

Vincent, Ajoy

Hospital for Sick Children

“Genetics of Hereditary Macular Dystrophies”

$75,000

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

Matsui-Serrano, Rodrigo

Ophthalmological Institute CONVAL

“Clinical and Molecular Characterization of Mexican Patients with Inherited Retinal Degenerations”

$75,000

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

Elizabeth Anderson Career Development Award

Yang, Paul

Oregon Health & Science University

“Neuroprotective Mechanisms of Mycophenolate Mofetil in Retinitis Pigmentosa”

$75,000

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

Ted and Elaine Welp Enhanced Career Development Award


Pennesi, Mark

Oregon Health & Science University

“Serotonin Receptor Modulation to Ellicit Neuroprotection in Retinal Degenerative Diseases”

$168,106

Dr. Pennesi is expanding his study of serotonin receptors, which he has shown can be modulated to protect photoreceptors from degeneration, to understanding the mechanism of this protection to develop gene-independent therapies for RP.

Comander, Jason

Massachusetts Eye and Ear Infirmary

“Improving Diagnosis of Retinitis Pigmentosa by Efficient Characterization of Potentially Pathogenic DNA Variants”

$170,000

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

INDIVIDUAL INVESTIGATOR RESEARCH AWARD PROGRAM


Cellular Molecular Mechanism of Disease


Al-Ubaidi, Muayyad R.

University of Houston

“Role of Tyrosine Sulfation in Vision”

$56,462

Dr. Al-Ubaidi is investigating the role of the complement system (immune system) modulation in the development of age-related macular degeneration (AMD). He plans to develop a new mouse model to improve the understanding of AMD development and test potential therapies.

Ayyagari, Radha

University of California, San Diego

“Molecular Pathology Underlying Retinal Degeneration due to the Involvement of CTRP5/C1QTNF5 and MFRP Genes”

$100,000

Dr. Ayyagari is investigating a protein expressed in the RPE called CTRP5, which is implicated in late-onset retinal degeneration. She will also be learning more about the protein MFRP, which binds to CTRP5 and is associated with early-onset degeneration. She believes that investigating the roles and interaction of these two proteins can lead to a better understanding of dry AMD and a number of other retinal pathologies.

Bowes Rickman, Cathy

Duke University

“Regulation of Sub-RPE Deposit Formation in AMD by Local and Systemic Complement Factor H”

$100,000

Dr. Bowes-Rickman is exploring how two proteins — CFH and FHL-1 — might be regulated in the retina to prevent complement-system activation and, ultimately, the onset of dry AMD.

Ding, Xi-Qin

University of Oklahoma Health Sciences Center

“Thyroid Hormone Receptor Signaling and Photoreceptor Survival in Retinal Degeneration”

$100,000

Dr. Ding is continuing lab studies of her promising work showing that suppression of thyroid hormone can be a viable approach for preserving cones in retinal degenerations.

Nishina, Patsy M.

The Jackson Laboratory

“Characterization and Treatment of a Mouse Model of Butterfly-Shaped Patterened Dystrophy”

$100,000

Dr. Nishina is investigating how mutations in the gene CTNNA1 lead to a retinal disease called Butterfly Macular Pattern Dystrophy (BPMD). This condition is characterized by RPE degeneration, following a disease pathway that’s very similar to that for dry AMD. Dr. Nishina will be developing gene-corrected RPE derived from stem cells as a potential therapy for BPMD and dry AMD.

Staley, Jonathan

University of Chicago

“Toward a Common Disease Mechanism Underlying Splicing Factor-Associated adRP”

$100,000

Dr. Staley is investigating how alterations in splicing factor genes — whose proteins help retinal cells properly process genetic code — result in retinal degenerations such as retinitis pigmentosa. He and his research team are developing strategies for correcting these alterations, thereby potentially saving vision in people.

Zacks, David

University of Michigan

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

$99,973

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

Clinical: Structure and Function Relationships


Farsiu, Sina

Duke University

“Automated Software for Analysis of Adaptive Optics Scanning Laser Ophthalmoscopy Images”

$99,999

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

Gene Therapy


Guziewicz, Karina E.

University of Pennsylvania

“AAV-Mediated Therapy for Best Vitelliform Macular Dystrophy”

$275,450

Dr. Karina Guziewicz is collaborating with Drs. David Gamm and Bill Hauswirth to conduct continuing preclinical studies to move gene therapy for autosomal recessive Bestrophin-1 caused maculopathy (BEST Disease) toward the clinic.

Liu, Qin

Massachusetts Eye and Ear Infirmary

“Development of CRISPR/Cas9-Based Genome Editing Approaches for RP1 Associated Autosomal Dominant Retinitis Pigmentosa”

$100,000

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

Wijnholds, Jan

Leiden University

“Advance Gene Therapy Research for CRB1-Related RDDs”

$100,000

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

Williams, David

University of California, Los Angeles

“Gene Editing of the Usher 1B Gene”

$100,000

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

Wolfrum, Uwe

Johannes Gutenberg University of Mainz

“Generation of a Transgenic USH1C Mini Pig”

$49,941

Dr. Wolfrum is developing a non-rodent large animal model for USH1C suitable to evaluation therapeutic strategies.

Genetic


Gamm, David

University of Wisconsin-Madison

“Finding Elusive RP Genes”

$273,511

Dr. Gamm and Dr. Pierce will use whole genome sequencing analysis and human iPS cell (hiPSC)-based approaches to develop technique(s) for the discovery of RP-causing gene mutations that escape standard methods of detection.

Small, Kent

Molecular Insight Research Foundation

“North Carolina Macular Dystrophy (NCMD): Finding All of the Mutations”

$100,000

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

Vollrath, Douglas

Stanford University

“TYRO3 as a Modifier of MERTK-Associated Photoreceptor Degeneration”

$100,000

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

Novel Medical Therapy


Ash, John

University of Florida

“Developing AAV Vectors for Drug-Regulated Expression of Neuroprotective Factors to Induce Broad Spectrum Protection of Photoreceptors and RPE”

$100,000

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

Banfi, Sandro

Fondazione Telethon

“MicroRNA miR-204, a New Potential Therapeutic Tool for Inherited Retinal Dystrophies”

$100,000

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

Campochiaro, Peter

Johns Hopkins Hospital

“The Effects of N-Acetylcysteine Amide on Retinal Degeneration”

$150,000

Dr. Campochiaro is evaluating N-acetylcysteine amide (NACA), an emerging antioxidant therapy for retinitis pigmentosa, in lab studies. The knowledge gained about the drug’s penetration of the retina in animal models will enable clinical researchers to determine optimal dosing and administration strategies for evaluation in a future clinical trial.

Fadool, James

Florida State University

“Small Molecule In Vivo Screen for Modulators of Photoreceptor Degeneration-induced Alteration”

$99,997

Dr. Fadool is screening thousands of potential vision-saving drugs in zebrafish models of retinal degenerations.

Hackam, Abigail

University of Miami

“Photoreceptor Rescue by Blocking the MyD88-Mediated Innate Immune System”

$100,000

Dr. Hackam is investigating the immune-system pathway for preventing vision loss from dry AMD. She has evidence that blocking the production of a protein called MyD88 may prevent damaging immune-system activity

Mandal, Nawajes

University of Tennessee Health Science Center

“Protective Effect of FTY720 in Animal Models of Human Retinal Degeneration”

$31,875

Dr. Mandal is evaluating the efficacy of a new drug called FTY720 in preventing or delaying vision loss in animal models of retinal degeneration. His goal is to develop a therapeutic eye drop that could be used in humans with retinal diseases.

Petersen-Jones, Simon M

Michigan State University

“Generation of a Large Animal Stargardt Disease Model”

$97,385

Dr. Petersen-Jones will develop a canine model of Stargardt disease with retinal degeneration very similar to that in humans.

Smith, Sylvia

Augusta University

“Targeting Sigma 1 Receptor in Retinitis Pigmentosa”

$100,000

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

Tsang, Stephen H.

Columbia University

“Gene Editing to Repair Mutations in adRP”

$130,000

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.

Zack, Donald J.

Johns Hopkins University

“Development of AAV Vector-Mediated CRISPR/Cas9 Gene Editing for the Treatment of ADRP”

$100,000

Dr. Zack's overall goal of this study is to use a gene editing tool in animal models of autosomal dominant RP to specifically alter the mutated copy of the disease-causing gene so that it does not express its toxic gene product, while not affecting expression of the WT gene.

Regenerative Medicine


Gamm, David

University of Wisconsin, Madison

“Production and Characterization of Patient-Specific iPS Cell Modules of Best Disease for Therapeutic Testing”

$150,000

Dr. Gamm is developing human induced-pluripotent stem cells lines of Best disease to test several drugs for therapeutic potential.

Reh, Thomas

University of Washington

“Reprogramming Muller Glial Cells with Ascli to Regenerate Adult Mouse Retina”

$97,251

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

Reh, Thomas

University of Washington

“Identification of Factors That Stimulate Retinal Regeneration”

$98,617

Dr. Reh is investigating the factors that can stimulate Muller glial cells to generate into photoreceptors for vision restoration in retinas affected by inherited diseases such as retinitis pigmentosa.

Singh, Ruchira

University of Rochester

“Engineering a Human Model of Outer Blood Retinal Barrier-Vascular Complex From hiPSCs”

$99,777

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

TRANSLATIONAL RESEARCH ACCELERATION PROGRAM


La Spada, Albert

University of California, San Diego

“Development of Oligonucleotide Rx for Knock-Down of a Toxic Disease Protein in Spinocerebellar Ataxia Type 7 Retinal Degeneration”

$360,439

Dr. La Spada's overall goal is to create a gene knockdown therapy development path (to reduce the expression of a chosen protein) for ANY retinal disease that results from the production of a toxic protein, including certain forms of macular degeneration.

Petrukhin, Konstantin

Columbia University

“Pharmacological Treatments for Stargardt Disease”

$350,996

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.

Gamm, David

University of Wisconsin, Madison

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

$227,535

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.

Flannery, John

University of California, Berkeley

“Development of Optogenetic Tools with Increased Light Sensitivity for Vision Restoration”

$115,691

Dr. Flannery is expressing a light-sensitive protein receptor in retinal bipolar cells to confer light perception to the brain in the absence of photoreceptors.

Kramer, Richard

University of California, Berkeley

“Development of Small Molecule Photoswitch Approach for Restoring Visual Function in Retinitis Pigmentosa”

$68,699

Dr. Kramer's project is developing photoswitch molecules as a potential therapy for restoring vision in RP patients. By developing a simple photosensitive drug for restoring light-sensitivity, they are essentially proposing a therapy that is not gene specific.

Pierce, Eric

Massachusetts Eye and Ear Infirmary

“Efficacy, Safety, and Toxicity of AAV-Mediated Human RPGRIP1 Replacement Gene Therapy in Mice and Nonhuman Primates”

$316,978

Dr. Pierce is conducting lab studies in preparation for a clinical trial of a gene therapy based on an adeno-associated virus for people with Leber congenital amaurosis caused by mutations in RPGRIP1.

Sahel, Jose-Alain

Pierre and Marie Curie University

“Restoration of Visual Function Through Cone Reactivation”

$310,695

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

Mumm, Jeffery

Johns Hopkins University

“Novel Drug Discovery Platform for Identifying Compounds Promoting Rod Photoreceptor Survial”

$129,415

Dr. Mumm is screening libraries of thousands of drugs, some of which are already FDA-approved for other conditions, to determine if they save vision. He is using zebrafish for the screening to gain a good initial sense of the drugs’ vision-saving potentials.

Campochiaro, Peter

Johns Hopkins Hospital

“The Effects of N-Acetylcysteine Amide on Retinal Degeneration”

$150,000

Dr. Campochiaro is evaluating N-acetylcysteine amide (NACA), an emerging antioxidant therapy for retinitis pigmentosa, in lab studies. The knowledge gained about the drug’s penetration of the retina in animal models will enable clinical researchers to determine optimal dosing and administration strategies for evaluation in a future clinical trial.

PROGRAM PROJECT AWARD/RESEARCH CENTER PROGRAM


Cremers, Frans

Radboud University Nijmegen Medical Center

“Splice Modulation to Treat Inherited Retinal Diseases”

$500,593

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

Duncan, Jacque

University of California, San Francisco

“Characterization of Existing and Newly Developed Models of Usher Syndrome”

$498,215

Drs. Duncan and Carroll are leading a multi-discipline team of scientists 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.

Berman-Gund Laboratory for the Study of Retinal Degenerations


Pierce, Eric

Massachusetts Eye and Ear Infirmary

“Clinical Research Studies of Retinitis Pigmentosa and Allied Diseases”

$180,000

Module I: Dr. Pierce is conducting clinical studies to: 1) determine if reduced levels of vitamin A supplementation are beneficial to children, 2) better understand the disease course in Usher syndrome type 1, and 3) determine if genetic mutation influences the response to vitamin A supplementation in adults with RP.

Pierce, Eric

Massachusetts Eye and Ear Infirmary

“Molecular Genetic Studies for Retinitis Pigmentosa and Allied Diseases”

$140,000

Module II: Dr. Pierce is studying the genetic profiles of patients with inherited retinal diseases. One of his primary aims is to identify new genes associated with the conditions.

Vandenberghe, Luk

Massachusetts Eye and Ear Infirmary

“Gene Therapies for Animal Models of Retinitis Pigmentosa and Allied Diseases”

$180,000

Module III: This module is developing gene therapies based on adeno-associated viruses for retinitis pigmentosa caused by Usher syndrome with mutations in USHIC and USH2A mutations.

Children’s Hospital of Pennsylvania for the Study of Pediatric Onset Inherited Retinal Degenerations


Maguire, Albert

University of Pennsylvania

“Clinical Characterization and Treatment of Pediatric Retinal Degenerations”

$100,000

Module I: Dr. Maguire and his colleagues are investigating the correlation between the genetic and clinical profiles of children with retinal disease. He will also be establishing the infrastructure for clinical trials of gene therapies based on adeno-associated viruses for people with Leber congenital amaurosis (CEP290 and lebercillin mutations) and/or Stargardt disease (ABCA4 mutations).

Bennett, Jean

University of Pennsylvania

“Development of Gene Therapies for Early Onset, Severe Retinal Degeneration”

$100,000

Module II: Dr. Bennett is performing preclinical studies of gene and small molecule therapies for people with Leber congenital amaurosis (CEP290 and lebercillin mutations) and Stargardt disease (ABCA4 mutations).

Morgan, Jessica

University of Pennsylvania

“Non-Invasive, High-Resolution Imaging of Pediatric Retinal Degenerations”

$100,000

Module III: Dr. Morgan is investigating the degeneration of the retina and visual cortex in patients with inherited retinal degenerative diseases using high-resolution imaging techniques such as adaptive optics scanning laser ophthalmoscopy (AOSLO) and functional magnetic resonance imaging (fMRI).

Mills, Jason

University of Pennsylvania

“Research Core for the Development of Induced Pluripotent Stem Cell (iPSC) Models for Pediatric Onset Inherited Retinal Degenerations”

$100,000

Module IV: Dr. Bennicelli is using induced pluripotent stem cells to create patient-specific disease models for Leber congenital amaurosis (lebercillin and CEP290 mutations). The models will be used to test potential therapies.

The Cleveland Clinic Foundation Research Center for the Study of Retinal Degenerative Diseases


Crabb, John

Cleveland Clinic Foundation

“Proteomic and Genomic Biomarkers for Monitoring AMD Risk”

$121,248

Module II: Dr. Crabb is working to identify various proteins in the blood that indicate a person is at risk for age-related macular degeneration.

Peachey, Neal S.

Cleveland Clinic Foundation

“Congenital Stationary Night Blindness: Genotype-Phenotype Analysis”

$71,736

Module III: Dr. Peachy is investigating how the genetic profile of people with congenital stationary night blindness (CSNB) compares correlates with the manifestation of the disease. He will also be developing CSNB mouse models to better understand the disease and test future therapies.

Hollyfield, Joe G.

Cleveland Clinic Foundation

“Microglia and Macrophage Involvement in Geographic Atrophy”

$44,207

Module IV: Dr. Hollyfield is studying the distribution and involvement of inflammatory cells (macrophages and microglia) in donor eyes affected by dry age-related macular degeneration. His findings will provide fundamental information for developing therapies.

Anand-Apte, Bela

Cleveland Clinic Foundation

“Dysregulation of ECM Homeostatsis in Bruch's Membrane Regulates RPE Function in AMD”

$99,180

Module V: Dr. Anand-Apte is investigating if and how dysregulation of protein breakdown or synthesis leads to dysfunction of retinal pigment epithelial cells thereby causing age-related macular degeneration. His findings may provide strategies for therapy development.

Paris Research Center


Mohand-Said, Saddek

French Institute of Health and Medical Research (INSERM)

“Optimization of Phenotype for Disease Modeling and Cohort Recruitment, Cohort Follow-Up and Clinical Trials”

$110,000

Module I: Dr. Mohand-Said is developing and implementing technological tools — including adaptive optics, optical coherence tomography, holographic Doppler imaging, and MRI — for improving and accelerating clinical evaluation of patients with retinal diseases.

Audo, Isabelle

French Institute of Health and Medical Research (INSERM)

“Comprehensive Genetic Analysis to Decipher Pathogenic Mechanisms Underlying IRDs and Phenotype/Genotype Correlations in a French Cohort of Patients”

$130,000

Module II: Dr. Audo is conducting genetic analyses of patients with inherited retinal diseases to identify new disease-causing mutations and better understand the correlation between the genetic defects and their effects on vision.

Leveillard, Thierry

French Institute of Health and Medical Research (INSERM)

“Neuroprotection of Cones in Rod-Cone Dystrophies: Mechanisms of Action of RdCVF”

$61,000

Module IV: Dr. Léveillard is conducting lab studies of the rod-derived cone viability factor (RdCVF) protein in preparation for evaluating the therapy in a clinical trial for people with retinitis pigmentosa. Sustained delivery of RdCVF will be provided by a gene therapy based on an adeno-associated virus.

Picaud, Serge

French Institute of Health and Medical Research (INSERM)

“Visual Restoration in Retinal Dystrophies: Prosthetics and Optogenetics”

$60,300

Module V: Dr. Picaud is conducting lab studies of an optogenetic gene therapy for bipolar cells, as well as a retinal prosthetic, to restore vision in people with the most advanced retinal diseases.

Penn Large Animal Model Translational and Research Center


Beltran, William

University of Pennsylvania

“Medical Therapy Service”

$270,000

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

Aguirre, Gus

University of Pennsylvania

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

$175,000

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

Applebaum, Tatyana

University of Pennsylvania

“Gene Expression/Molecular Pathways in Photoreceptor Cell Death/Survival”

$55,000

Dr. Genini 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.

Scheie Eye Institute Retinal Degeneration Research Center


Jacobson, Samuel Gregory

University of Pennsylvania

“Clinical Center and Clinical Translational Research in RP, LCA, and Macular Degeneration”

$70,000

Module I: Dr. Jacobson is expanding knowledge of the causes of human retinal degenerations to more effectively develop and advance promising therapies into clinical trials. He and his colleagues also provide clinical services to patients

Cideciyan, Artur V.

University of Pennsylvania

“Outcome Measures for Clinical Trials in Stargardt Disease, Congenital Cone Diseases, and AMD”

$70,000

Module II: Dr. Cideciyan is developing outcome measures, such as retinal images obtained from optical coherence tomography, which can be used to effectively evaluate potential therapies in clinical trials. He is targeting measures for age-related macular degeneration, Stargardt disease, and conditions affecting cones.

Hauswirth, William

University of Florida

“Gene Therapy for CEP290 LCA and RPE Dystrophies”

$50,000

Module III: Dr. Hauswirth is developing a gene therapy based on an adeno-associated virus for Leber congenital amaurosis caused by mutations in CEP290.

Palczewski, Krzysztof

Case Western Reserve University

“Gene Transfer and Pharmacological Therapy for Retinal Degenerations”

$35,000

Module IV: Dr. Palczewski is developing drug and gene delivery systems to safely and effectively get treatments to the human retina.

Aguirre, Gus

University of Pennsylvania

“Optimizing Therapies in Preclinical Models of Early Onset RD”

$70,000

Module V: Dr. Aguirre is optimizing emerging therapies in canine models of retinal degeneration. His studies are helping prepare promising treatments for evaluation in clinical trials.

Southwest Regional Research Center for the Study of Retinal Degenerative Diseases


Birch, David G.

Retina Foundation of the Southwest

“Treatment Trials for Retinal Degenerative Diseases”

$99,076

Module I: Dr. Birch is investigating novel ways to use optical coherence tomography to correlate retinal structure with visual function. He is also completing a clinical trial of DHA therapy for people with X-linked retinitis pigmentosa.

Wheaton, Dianna K.

Retina Foundation of the Southwest

“Southwest Eye Registry”

$98,074

Module II: Dr. Wheaton is maintaining and expanding the Southwest Eye Registry, a genetic and clinical database for people with retinal degenerations. The Registry, which has information on more than 4,100 individuals, helps retinal researchers better understand diseases, find new disease-causing genes, and identify participants for human studies.

Daiger, Stephen P.

University of Texas

“Molecular Studies of Autosomal Forms of RP”

$78,029

Module IV: Dr. Daiger and his team are using innovative techniques such as whole-exome sequencing to identify genes that are linked to autosomal dominant forms of RP (adRP). He is also performing genetic testing for families affected by adRP.

Daiger, Stephen P.

University of Texas

“RetNet Retinal Information Network”

$17,037

Module V: Dr. Daiger is continually updating RetNet, a comprehensive, user-friendly, and widely-used catalogue of disease-causing genetic mutations for retinal degenerative diseases. RetNet is an indispensible resource for the international retinal research community.

Anderson, Robert Eugene

University of Oklahoma

“Development of Novel Nitrones for Treatment for Macular Degeneration”

$63,750

Module VI: Dr. Anderson is testing the efficacy of a small molecule called PBN (and related derivatives) for slowing the loss of retinal cells and reducing the accumulation of the toxin A2E, in three animal models of retinal degeneration. He believes PBN may slow vision loss in people with age-related macular degeneration and Stargardt disease.

CLINICAL RESEARCH INSTITUTE PROJECTS


ProgStar Natural History Clinical Study

Dr. Hendrik Scholl is serving as the principal investigator for ProgStar, a natural history study of people with Stargardt disease. The goals of the study include determination of endpoints and identification of participants for future clinical trials. The Foundation has included an ancillary study to investigate the rod photoreceptor's sensitivity during the natural course of the disease through the ProgSTAR Study

My Retina Tracker

“National Registry”

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

Nacuity Pharmaceuticals, Inc.

“Development of N-Acetyl Cysteine Amide (NACA) for use in Treating Patients with Retinitis Pigmentosa”

Nacuity is a Texas-based biotech developing N-acetycysteine amide for the treatment of retinitis pigmentosa

SparingVision

“RdCVF Preclinical Studies”

Under the leadership of Dr. Sahel, SparingVision is developing a gene therapy that delivers rod-derived cone viability factor — a protein showing promise in preserving cones in models of retinal degeneration. His work includes studies in preparation for a clinical trial.

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.