2015 Funded Grants

ALAN LATIES CAREER DEVELOPMENT AWARDS

Howard Hughes Medical Institute-Foundation Fighting Blindness Medical Fellowship Award. 6

Begaj, Tedi, BS. 6

Chang, Emily, BS. 6

Clinical Research Fellowship Program.. 6

Huckfeldt, Rachel, MD, PhD.. 6

Veterinarian Residents Program Award. 6

Miyadera, Keiko, VMD, PhD.. 7

Elizabeth Anderson Career Development Award. 7

Kay, Christine, MD.. 7

Career Development Award. 7

Chavala, Sai, MD.. 7

Kleinman, Mark, MD.. 7

Michaelides, Michel, MD, FRC, Ophth. 8

Yang, Paul, MD, PhD.. 8

Sui, Ruifang, MD, PhD.. 8

Enhanced Career Development Award. 9

Pennesi, Mark, MD.. 9

INDIVIDUAL INVESTIGATOR AND COLLABORATOR AWARDS. 9

Cellular Molecular Mechanisms of Disease. 9

Nishina, Patsy, PhD.. 9

Ayyagari, Radha, PhD.. 9

Bowes Rickman, Catherine, PhD.. 10

Ding, Xi-Qin, PhD.. 10

Petersen Jones, Simon, DVM, DVO, PhD.. 10

Staley, Jonathan, PhD.. 11

Clinical Support. 11

Campochiaro, Peter, MD.. 11

Clinical: Structure and Function Studies. 11

Burns, Stephen, PhD.. 11

Roorda, Austin, PhD.. 12

Gene Therapy. 12

Boye, Shannon, PhD.. 12

Chulay, Jeffrey, MD.. 12

Collin, Rob, PhD.. 12

Flannery, John, PhD.. 13

Hauswirth, William, PhD.. 13

Kramer, Richard, PhD.. 13

Lewin, Al, PhD.. 14

Sahel, José-Alain, MD.. 14

Genetics. 14

Chen, Rui, PhD.. 14

Daiger, Stephen, PhD.. 15

Gamm, David, MD, PhD.. 15

Perlman, Ido, PhD.. 15

Pierce, Eric, MD, PhD.. 16

Stone, Edwin, MD, PhD.. 16

Farkas, Michael, PhD.. 16

Novel Medical Therapy. 16

Ambati, Jayakrishna, MD.. 16

Ash, John, PhD.. 17

Beeson, Craig, PhD.. 17

Fadool, James, PhD.. 17

Ferrington, Deborah, PhD.. 18

Hackam, Abigail, PhD.. 18

Lentz, Jennifer, PhD.. 18

Mumm, Jeffrey, PhD.. 19

Sahel, Jose-Alain, MD, PhD.. 19

Sahel, Jose-Alain, MD, PhD.. 19

Zack, Donald, MD, PhD.. 19

Regenerative Medicine. 20

Gamm, David, MD, PhD.. 20

Gamm, David, MD, PhD.. 20

Reh, Thomas, PhD.. 20

FFB RESEARCH CENTER AWARDS. 21

Berman-Gund Laboratory for the Study of Retinal Degenerations. 21

Pierce, Eric, MD, PhD.. 21

Pierce, Eric, MD, PhD.. 21

Vandenberghe, LUK, MD.. 21

Children’s Hospital of Pennsylvania for the Study of Pediatric Onset Inherited Retinal Degenerations. 22

Bennett, Jean, MD.. 22

Bennicelli, Jeannette, PhD.. 22

Maguire, Albert, MD, PhD.. 22

Morgan, Jessica, PhD.. 23

The Cleveland Clinic Foundation Research Center for the Study of Retinal Degenerative Diseases. 23

Anand-Apte, Bela, PhD.. 23

Crabb, John, PhD.. 23

Hollyfield, Joe, PhD.. 24

Peachey, Neal, PhD.. 24

Research for the Study of Retinal Degeneration at the Institute for Vision Research. 24

Russell, Steve, MD.. 24

Stone, Edwin, MD, PhD.. 24

Tucker, Budd, MD.. 25

Kearn Family Center for Study of Retinal Degeneration. 25

Duncan, Jacque, MD.. 25

Flannery, John, PhD.. 25

LaVail, Matthew, PhD.. 26

Vollrath, Douglas, MD, PhD.. 26

W.K. Kellogg Eye Center for the Study of Retinal Degenerative Diseases. 26

Ayyagari, Radha, PhD.. 26

Heckenlively, John, MD.. 27

Khanna, Hemant, PhD.. 27

Thompson, Debra, PhD.. 27

Zacks, David, MD, PhD.. 28

Research Center for the Study of Retinal Degenerative Diseases at the Institute of Ophthalmology and Moorfields Eye Hospital 28

Bhattacharya, Shomi, PhD.. 28

Fitzke, Frederick, PhD.. 28

Greater New York Regional Research Center for the Study of Retinal Degenerative Diseases. 28

Allikmets, Rando, PhD.. 29

Del Priore, Lucian, MD, PhD.. 29

Sparrow, Janet, PhD.. 29

Tsang, Stephen, MD, PhD.. 29

Zarbin, Marco, MD, PhD.. 30

Radboud University Nijmegen Research Center for Studying Retina Degenerative Diseases. 30

Cremers, Frans, PhD.. 30

den Hollander, Anneke, PhD.. 30

Kremer, Hannie, PhD.. 31

Ropeman, Ronald, PhD.. 31

Theelen, Thomas, MD, PhD.. 31

Oregon Health and Science University Research Center for the Study of Retinal Degenerative Diseases  32

Chiang, John, MD.. 32

Hauswirth, William, PhD.. 32

Neuringer, Martha, PhD.. 32

Weleber, Richard, MD.. 33

Paris Research Center for the Study of Retinal Degenerative Diseases. 33

Audo Isabelle, AND ZEITZ CHRISTINE, MD, PhD.. 33

Léveillard, Thierry, MD, PhD.. 33

Mohand-Said, Saddek, PhD.. 34

Picaud, Serge, PhD.. 34

Penn Large Animal Model Translational and Research Center. 34

Aguirre, Gustavo, VMD, PhD.. 34

Applebaum, Tatyana, VMD, PhD.. 34

Beltran, William, PhD.. 35

Aguirre, Gustavo, VMD, PhD.. 35

Scheie Eye Institute Retinal Degeneration Research Center. 35

Cideciyan, Artur, PhD.. 35

Hauswirth, William, PhD.. 36

Jacobson, Samuel, MD, PhD.. 36

Palczewski, Krzysztof, PhD.. 36

Southwest Regional Research Center for the Study of Retinal Degenerative Diseases. 37

Al-Ubaidi, Muayyad, PhD.. 37

Anderson, Robert E, MD, PhD.. 37

Birch, David G, PhD.. 37

Daiger, Stephen, PhD.. 38

Daiger, Stephen, PhD.. 38

Mandal, Nawajes, PhD.. 38

Wheaton, Dianna K, PhD.. 38

FOUNDATION FIGHTING BLINDNESS CLINICAL RESEARCH INSTITUTE. 39

Scholl, Hendrik, MD.. 39

Scholl, Hendrik, MD.. 40

Vision Medicines. 40

BOARD OF DIRECTORS’ AWARD.. 40

Shannon Boye, PhD.. 40

LLURA LIGGETT GUND AWARD.. 41

José-Alain Sahel, MD, PhD.. 41

ALAN LATIES CAREER DEVELOPMENT AWARDS

Howard Hughes Medical Institute-Foundation Fighting Blindness Medical Fellowship Award


Begaj, Tedi, BS

Harvard Medical School

 “Cone cell targeted gene therapy by AAV-mediated delivery in Retinitis Pigmentosa”

$41000

Mr. Begaj is using cone cell-specific AAV vectors to deliver neuroprotective compounds to the cone cells for promotion of their survival.


Chang, Emily, BS

Baylor College of Medicine

 “Reversal of autosomal dominant retinitis pigmentosa using recombinant adeno-associated virus delivery of the programmable nuclease CRISPR.”

$41000

Ms. Chang is developing a treatment for RP due to mutation in the rhodopsin gene using a CRISPR/Cas technology to impair mutant gene expression


Clinical Research Fellowship Program


Huckfeldt, Rachel, MD, PhD

Massachusetts Eye and Ear Infirmary

 “Role of RNA Splicing Factors in Retina Degeneration”

$65000

Dr. Huckfeldt is studying how genetic and clinical characteristics  are related in autosomal dominant RP to improve genetic diagnoses using state of the art imaging tools.


Veterinarian Residents Program Award


Miyadera, Keiko, VMD, PhD

University of Pennsylvania

 “Molecular characterization or a genetic modifier controlling the age of inset in a canine model of RPGRIP1 cone-rod dystrophy”

$28800

Dr. Miyadera has concluded that in certain rod-cone dystrophies there are genes mutations that modify the age and onset of disease.  By determining the modifier it will be possible to identify potential targets that could be incorporated into therapeutic application


Elizabeth Anderson Career Development Award


Kay, Christine, MD

VitreoRetinal Associates

 “Development and Optimization of a Viral Gene Delivery System for the Treatment of CNGB3-associated Achromatopsia”

$75000

Dr. Kay is developing an adeno-associated viral gene delivery system for the treatment of achromatopsia caused by mutations in CNGB3. Her goal is to be prepared to request authorization from the FDA to launch a clinical trial.


Career Development Award


Chavala, Sai, MD

The University of North Carolina, Chapel Hill

 “In vivo reprogramming strategies for retinal degeneration”

$75000

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


Kleinman, Mark, MD

University of Kentucky

 “Identification and Therapeutic Targeting of Pathogenic Nucleic Acids in AMD”

$75000

Dr. Kleinman is investigating various pathways for treating geographic atrophy (advanced dry age-related macular degeneration). As a result of his findings, he is evaluating potential therapeutic compounds and hopes to launch a clinical trial of a promising candidate.


Michaelides, Michel, MD, FRC, Ophth

Moorfields / University College London

 “Phenotyping and Genotyping Patients with Inherited Retinal Dystrophies in Preparation for Planned Therapeutic Interventions”

$75000

Dr. Michaelides is participating in a wide range of research efforts for Leber congenital amaurosis (AIPL1 mutations), X-linked retinitis pigmentosa (RPGR mutations), Stargardt disease and achromatopsia. His work includes gaining a better understanding of a disease’s effect on vision and underlying genetic cause. His team is also developing a number of gene therapies with strong clinical potential.


Yang, Paul, MD, PhD

Oregon Health Science University

 “Neuroprotective Mechanisms of Mycophenolate Mofetil in Retinitis Pigmentosa”

$75000

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.


Sui, Ruifang, MD, PhD

Peking Union Medical College Hospital

 “Clinical and Genetic Research of Inherited Ocular Diseases in China”

$100000

Dr. Sui is collecting and cataloguing genetic and natural history information for Chinese people affected by retinal degenerations. In addition to gaining a better understanding of retinal diseases, she is identifying participants for future clinical trials.


Enhanced Career Development Award


Pennesi, Mark, MD

Oregon Health Science University

 “Serotonin Receptor Modulation to Elicit Neuro-protection in Retinal”

$140015

Dr. Pennesi is expanding his study of serotonin receptors, which he previously showed can be modulated to protect photoreceptors from degeneration, to understand the mechanism of action to develop gene-independent therapies for RP.


INDIVIDUAL INVESTIGATOR AND COLLABORATOR AWARDS

Cellular Molecular Mechanisms of Disease


Nishina, Patsy, PhD

The Jackson Laboratory

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

$100000

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.


Ayyagari, Radha, PhD

University of California, San Diego

 “Molecular pathology underlying retinal degeneration due to the involvement of CTRP5/C1QTNF5 and MFRP genes”

$100000

Dr. Ayyagari is investigating a protein expressed in the retinal epithelial cells 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, Catherine, PhD

Duke University Medical Center

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

$100000

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, PhD

University of Oklahoma

 “Thyroid hormone receptor signaling and photoreceptor survival in retinal degeneration”

$100000

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.


Petersen Jones, Simon, DVM, DVO, PhD

Michigan State University

 “Generation of a large animal Stargardt disease model”

$97390

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


Staley, Jonathan, PhD

University of Chicago

 “Toward a common disease mechanism underlying splicing factor-associated adRP”

$100000

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.


Clinical Support


Campochiaro, Peter, MD

Johns Hopkins University School of Medicine

 “Biomarkers in Retinitis Pigmentosa”

TRAP

$39000

This study will enroll 20 patients with RP and 40 controls to develop biomarkers that could serve as interim readouts of drug activity, bioavailability, and compliance for planning and carrying out clinical trials.


Clinical: Structure and Function Studies


Burns, Stephen, PhD

Indiana University

 “Rapid Clinical Evaluation of Photoreceptors using High Throughput Adaptive Optics”

$99964

Dr. Stephen Burns is working with the adaptive optics scanning laser ophthalmoscope (AOSLO) to study the correlation between retinal and vision changes. He is also employing state-of-the-art computing technologies derived from video games to decrease image-processing times and costs. The new technology will make the imaging process more comfortable for the patient.


Roorda, Austin, PhD

University of California, San Francisco

 “The relationship between structure and function in inherited retinal disease.”

$99754

Dr. Roorda is performing studies of the adaptive optics scanning laser ophthalmoscope (AOSLO) to correlate changes in the retina (e.g., loss of photoreceptors) with changes in vision.  That capability can enable researchers to more quickly determine if a treatment is working in a clinical trial.


Gene Therapy


Boye, Shannon, PhD

University of Florida

 “Dual AAV vector-mediated therapy for Myosin7a Usher syndrome (USH1B)”

$75000

Dr. Boye is developing a gene therapy based on an adeno-associated virus for Usher syndrome type 1B, which is caused by mutations in the gene MYO7A. Because MYO7A is large, the treatment involves delivery of the gene in two packages (i.e., dual vector delivery).


Chulay, Jeffrey, MD

AGTC

 “AAV-Based Therapy for X-linked Retinoschisis”

$571564

Dr. Chulay is leading the development of a gene therapy based on an adeno-associated virus for X-linked retinoschisis in preparation for requesting authorization from the FDA to launch a clinical trial.


Collin, Rob, PhD

Radboud University

 “Developing Antisense Oligonucleotide-based therapy for CEP290-associated LCA”

$99681

Dr. Collin is developing a gene correction technique that uses RNA molecules to 'patch' mutations in the CEP290 gene which otherwise leads to Leber congenital amaurosis


Flannery, John, PhD

University of California, Berkeley

 “Development of optogenetic tools with increased light sensitivity for vision restoration”

Milestone-based payment

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


Hauswirth, William, PhD

University of Florida

 “Gene Therapy for LCA1”

$143446

Dr. Hauswirth is developing a gene therapy based on an adeno-associated virus for Leber congenital amaurosis (GC1 mutations) in preparation for requesting authorization from the FDA to launch a clinical trial.


Kramer, Richard, PhD

University of California, Berkeley

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

$69657

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.


Lewin, Al, PhD

University of Florida

 “Translating Gene Therapy for RHO adRP to the Clinic”

$94530

Dr. Lewin and his team are developing a two-step gene therapy for autosomal dominant retinitis pigmentosa caused by mutations in the gene rhodopsin. The treatment involves delivery of a healthy gene and suppression of the mutant gene’s activity. Success in the studies will help position the treatment for evaluation in a clinical trial.


Sahel, José-Alain, MD

University Pierre Marie Curie

 “Restoration of Visual Function Through Cone Reactivation”

Milestone-based payment

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.


Genetics


Chen, Rui, PhD

Baylor College of Medicine

 “Genetics of autosomal dominant Retinitis Pigmentosa”

$100000

Dr. Chen is on the hunt for genes linked to autosomal dominant retinitis pigmentosa (adRP). With DNA from 118 adRP families, including 18 families with at least nine affected members, Dr. Chen is well positioned to identify additional adRP-associated genes. Finding the new genes will provide researchers with targets for treatments and cures.


Daiger, Stephen, PhD

University of Texas at Houston

 “Factors Affecting Clinical Consequences of Mutations Causing X-Linked Retinitis Pigmentosa”

$98651

Dr. Daiger is investigating the role of various biological, genetic and environmental factors in vision-loss variability for those with XLRP. The identification of a significant factor that modulates vision-loss severity — perhaps a protective protein — could lead to a potential treatment.


Gamm, David, MD, PhD

University of Wisconsin

 “Finding Elusive RP Genes”

$268008

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


Perlman, Ido, PhD

Technion-Israel Institute of Technology

 “Mapping Inherited Retinal Degenerative Diseases (RDD) in the Israeli Population”

$200000

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


Pierce, Eric, MD, PhD

Massachusetts Eye and Ear Infirmary

 “Finding Elusive RP Genes”

$237593

Dr. Pierce and Dr. Gamm 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


Stone, Edwin, MD, PhD

University of Iowa

 “Developing Treatments for Recessive Retinal Degeneration”

TRAP

$671000

Dr. Stone is using both induced pluripotent stem cells and animal models to develop and evaluate gene therapies for a form of retinitis pigmentosa caused by defects in the MAK gene.


Farkas, Michael, PhD

Massachusetts Eye and Ear Infirmary

 “Functional characterization of a novel splice site variant in PRPF31”

$53289

Dr. Farkas is investigating whether a newly found variant of the PRPF31 gene leads to adRP.


Novel Medical Therapy


Ambati, Jayakrishna, MD

University of Kentucky

 “MyD88 inhibitory gene therapy for RPE degeneration”

$90738

Dr. Ambati is developing a gene therapy based on an adeno-associated virus that preserves retinal pigment epithelial (RPE) cells by preventing the harmful sequence of immune-system events associated with age-related macular degeneration.


Ash, John, PhD

University of Florida

 “Using AAV-STAT3 and AAV-PIM-1 vectors to induce broad-spectrum protection of photoreceptors and RPE”

$100000

Dr. Ash is developing neuroprotective gene therapies that have the potential to preserve vision in people affected by a broad range of retinal diseases. Unlike corrective gene therapies, which work only for conditions caused by a specific gene, Dr. Ash’s proposed treatments are designed to keep the retina healthy independent of the underlying disease-causing gene.


Beeson, Craig, PhD

MitoChem Therapeutics

 “Identification of lead compounds targeting mitochondrial metabolism”

$8000

Dr. Beeson is evaluating three compounds that appear to protect mitochondrial function and show potential for slowing vision loss caused by a variety of retinal degenerations. The goal is to determine which one will work best in people and move it into a clinical trial.


Fadool, James, PhD

Florida State University

 “Small Molecule In Vivo Screen For Modulators of Photoreceptor Degeneration-Induced Alterations”

$99997

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


Ferrington, Deborah, PhD

University of Minnesota

 “Enhancing Mitochondrial Function as a Treatment for Dry Age-related Macular Degeneration”

$100000

Based on prior research, Dr. Ferrington believes that mitochondrial dysfunction in the retinal pigment epithelium (RPE) plays a significant role in the development of age-related macular degeneration. She is evaluating compounds that help protect mitochondrial function in the RPE.


Hackam, Abigail, PhD

University of Miami Miller School of Medicine

 “Photoreceptor rescue by blocking the MyD88-mediated innate immune system”

$100000

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.


Lentz, Jennifer, PhD

Louisiana State University

 “An Antisense-Oligonucleotide Treatment for Retinitis Pigmentosa in Usher Syndrome”

$180414

Dr. Lentz and her collaborator Dr. Michelle Hastings are developing a corrective genetic patch to enable retinal cells to read through premature stop codon mutations that lead to Usher syndrome 1C. This technology has the potential to be used to treat any retinal disease caused by these types of mutations.


Mumm, Jeffrey, PhD

Johns Hopkins School of Medicine

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

Milestone-based payment

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.


Sahel, Jose-Alain, MD, PhD

INSERM

 “RdCVF Preclinical Studies”

$373100

Dr. Sahel 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.


Sahel, Jose-Alain, MD, PhD

INSERM

 “Treating inherited retinal blindness using RdCVF2v”

$100000

Dr. Sahel's laboratory group is validating two newly identified RdCVF variants (RdCVF2v and RdCVF2Lv1) as therapeutic agents for RP


Zack, Donald, MD, PhD

Johns Hopkins School of Medicine

 “Development of neuroprotective protein kinase inhibitors for the treatment of retinitis pigmentosa”

$143844

Dr. Zack continues investigation of a compound called sunitinib and related molecules that have a protective property known as kinase inhibition. His goal is to identify the optimal neuroprotective kinase inhibitor for evaluation in a clinical trial.


Regenerative Medicine


Gamm, David, MD, PhD

University of Wisconsin

 “Co-culture and analysis of neural retina and RPE derived from GMP super donor hiPSC lines”

$272008

In collaboration with several scientists, Dr. Gamm is using induced pluripotent stem cells (iPSC) to develop a two-layered cell replacement therapy (a patch) that may benefit people with a variety of conditions including Stargardt disease and choroideremia.


Gamm, David, MD, PhD

University of Wisconsin

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

$150000

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


Reh, Thomas, PhD

University of Washington

 “Reprograming Muller glial cells with AscIi to regenerate adult mouse retina”

$97251

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.


FFB RESEARCH CENTER AWARDS

Berman-Gund Laboratory for the Study of Retinal Degenerations


Pierce, Eric, MD, PhD

Massachusetts Eye and Ear Infirmary

 “Clinical Research Studies of Retinitis Pigmentosa and Allied Diseases”

$180000

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, MD, PhD

Massachusetts Eye and Ear Infirmary

 “Molecular Genetic Studies of Retinitis Pigmentosa and Allied Disease”

$140000

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, MD

Massachusetts Eye and Ear Infirmary

 “Animal Models of Retinal Degenerations”

$180000

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


Bennett, Jean, MD

University of Pennsylvania

 “Development of gene therapies for early onset, severe retinal degeneration.”

$100000

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).


Bennicelli, Jeannette, PhD

University of Pennsylvania

 “Research core for the development of retinal disease-specific induced pluripotent stem cells (iPSC) models for pediatric onset inherited retinal degenerations”

$100000

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.


Maguire, Albert, MD, PhD

University of Pennsylvania

 “Clinical Characterization and Treatment of Pediatric Retinal Degenerations”

$100000

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).


Morgan, Jessica, PhD

University of Pennsylvania

 “Development on non-invasive, High Resolution imaging of Pediatric Retinal Degenerations”

$100000

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).


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


Anand-Apte, Bela, PhD

Cole Eye Institute

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

$99180

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.


Crabb, John, PhD

Cole Eye Institute

 “Proteomic and Genomic Biomarkers for Monitoring AMD Risk”

$121248

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.


Hollyfield, Joe, PhD

Cole Eye Institute

 “Microglia and Macrophage involvement in Geographic Atrophy”

$44207

Module IV: Dr. Holyfield 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.


Peachey, Neal, PhD

Cole Eye Institute

 “Congenital Stationary Night Blindness: Genotype-Phenotype Analysis”

$71736

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.


Research for the Study of Retinal Degeneration at the Institute for Vision Research


Russell, Steve, MD

University of Iowa

 “Clinical Features of Inherited Retinal Diseases”

$100000

Module IV: Dr. Russell is collecting genetic and clinical data for as many as 3,000 patients affected by retinal degenerations such as age-related macular degeneration and retinitis pigmentosa. The data will help researchers to better understand and characterize these diseases and identify targets for treatments.


Stone, Edwin, MD, PhD

University of Iowa

 “Finding the Causes of Autosomal Recessive Photoreceptor Degeneration”

$129000

Module I: Dr Stone is using next-generation sequencing technology to identify the disease-causing gene in individuals and families affected by a wide range of retinal degenerations.


Tucker, Budd, MD

University of Iowa

 “Use of induced pluripotent stem cells to model and treat hereditary retinal degenerative disease”

$100000

Module II: Dr. Tucker is using induced pluripotent stem cells — stem cells derived from skin — to study retinal diseases in both humans and animal models.  He is also using the cells to evaluate potential treatments.


Kearn Family Center for Study of Retinal Degeneration


Duncan, Jacque, MD

University of California, San Francisco

 “High Resolution Photoreceptor Imaging: A Novel Biomarker of Disease Progression and Treatment Response in Inherited Retinal Degenerations”

$217907

Module I: Dr. Duncan is using adaptive optics scanning laser ophthalmoscope (AOSLO) imaging to assess the effect of ciliary neurotrophic factor (CNTF) on the cones of patients with retinitis pigmentosa (RP) and Usher syndrome. CNTF is a potentially vision-saving protein that is delivered by Neurotech’s encapsulated cell technology.


Flannery, John, PhD

University of California, Berkeley

 “Viral Mediated Gene Therapy for Retinal Degenerations”

$74836

Module III: Dr. Flannery is investigating the use of intravitreal injections for delivering gene therapies to the retina. Intravitreal injections are less invasive than subretinal. His work includes identification of new variants of adeno-associated viruses for more effectively getting genes to penetrate retinal cells.


LaVail, Matthew, PhD

University of California, San Francisco

 “Neuroprotective, Cell- and Gene-Based Therapies for Retinal Degenerations”

$80831

Module II: Dr. LaVail is conducting lab studies of a protein known as STC-1 for saving vision from retinal diseases such as RP. He is evaluating different approaches — including gene therapy and stem cells — for delivering STC-1 to the retina.


Vollrath, Douglas, MD, PhD

Stanford University

 “Mouse Models of RPE Dysfunction in RP and Dry AMD”

$78107

Module IV: Dr. Vollrath is conducting lab research to better understand, and potentially treat, retinal diseases caused by dysfunction of retinal pigment epithelial cells — cells that play a critical support role for photoreceptors. These conditions include age-related macular degeneration and some forms of RP.


W.K. Kellogg Eye Center for the Study of Retinal Degenerative Diseases


Ayyagari, Radha, PhD

University of California, San Diego

 “Molecular Genetic Analysis of Patients with Retinitis Pigmentosa and Macular Degeneration”

$99446

Module II: Dr. Ayyagari is using whole-exome sequencing to identify the genetic defects, new and previously known, in people with retinal diseases including XLRP, Stargardt disease, and cone/cone-rod dystrophies.


Heckenlively, John, MD

University of Michigan

 “Human Clinical Studies of Retinal and Macular Degenerative Diseases”

$102461

Module I: Dr. Heckenlively is performing clinical and genetic studies of patients affected by a wide range of retinal diseases including X-linked retinitis pigmentosa (XLRP). His work will enable researchers to better understand and diagnose retinal conditions and prepare for future clinical trials of emerging treatments.


Khanna, Hemant, PhD

University of Massachusetts Medical School

 “Molecular Mechanisms of Pathogenesis of X-linked Retinal dystrophies”

$45261

Module IV: Dr. Khanna is investigating various models of XLRP to better understand why the condition causes vision loss and identify potential treatments for preserving vision.


Thompson, Debra, PhD

University of Michigan

 “Therapeutic Intervention in Vitamin A Metabolism in Visual Cycle and Related Defects”

$40000

Module V: Dr. Thompson is conducting research to evaluate the feasibility of gene therapy for Leber congenital amaurosis caused by mutations in the gene RDH12.


Zacks, David, MD, PhD

University of Michigan

 “Autophagy and control of photoreceptor cell death in hereditary retinal degeneration”

$75000

Module VI: Dr. Zacks is investigating the mechanisms that control the varying rate of degeneration in retinas affected by a broad range of diseases. Finding the biochemicals or proteins that slow vision loss will help identify targets for potential vision-saving treatments.


Research Center for the Study of Retinal Degenerative Diseases at the Institute of Ophthalmology and Moorfields Eye Hospital


Bhattacharya, Shomi, PhD

University College London

 “Genetic Studies, Functional Genomics and Animal Models of Retinal Disease”

$121195

Module IV: Dr. Bhattacharya is conducting studies to identify and characterize disease-causing genetic mutations in people with a variety of conditions including Leber congenital amaurosis (RDH12) and autosomal dominant forms of retinitis pigmentosa.


Fitzke, Frederick, PhD

University College of London

 “Imaging and Psychophysical Studies in Retinal Degenerations”

$139183

Module II: Dr. Fitzke and his colleagues are conducting imaging and psychophysical studies to gain a better understanding of how vision is lost in diseases such as age-related macular degeneration and Stargardt disease. His work is also helping to evaluate the effects of gene therapy in a clinical trial for Leber congenital amaurosis. In addition, Dr. Fitzke’s clinic is identifying patients with a wide range of retinal conditions for future human studies.


Greater New York Regional Research Center for the Study of Retinal Degenerative Diseases


Allikmets, Rando, PhD

Columbia University

 “Gene Therapy for Stargardt's Disease”

$85000

Module IV: Dr. Allikmets is conducting lab studies of the Stargardt disease gene therapy developed by Oxford BioMedica that is now in a clinical trial. He continues to refine and enhance the therapy to improve its overall effectiveness.


Del Priore, Lucian, MD, PhD

Medical University of South Carolina

 “Bruch's Membrane Repair in Advanced AMD: A Regenerative Medicine Approach”

$89440

Module III: Dr. Del Priore is investigating ways to repair and/or re-engineer Bruch’s membrane to better support RPE cells in people affected by AMD.


Sparrow, Janet, PhD

Columbia University

 “Assessing Treatment Outcomes in Pre-clinical Studies of ABCA4-related Retinal”

$51303

Module V: Dr. Sparrow is conducting lab studies to assess the effects of lipofuscin (a component of drusen) that accumulate in retinas affected by Stargardt disease. She is also investigating the effectiveness of gene therapy in reducing lipofuscin accumulation.


Tsang, Stephen, MD, PhD

Columbia University

 “Assessing severity, progression, and prognosis of I) ABCA4 retinopathies and II) retinitis pigmentosa (RP)”

$75000

Module I: Dr. Tsang is using a variety of diagnostic tools in the clinic to assess the severity, progression, and prognosis of various retinal diseases including Stargardt disease and retinitis pigmentosa. His goal is to better understand the conditions and correlate disease genetics with the nature and magnitude of vision loss. This information should be helpful in the design of clinical trials.


Zarbin, Marco, MD, PhD

Rutgers- New Jersey Medical School

 “Toxicity assessment of bovine corneal endothelial cell conditioned media following subretinal injections in pigs”

$70137

Module II: Dr. Zarbin is conducting research to determine how therapeutic retinal pigment epithelial (RPE) cells can be transplanted onto Bruch’s membrane, a part of the retina that can be adversely affected by age-related macular degeneration (AMD).


Radboud University Nijmegen Research Center for Studying Retina Degenerative Diseases


Cremers, Frans, PhD

Radboud University

 “Identification of novel retinal dystrophy genes by combining homozygosity

mapping and next generation sequencing

$86600

Module II: Dr. Cremers is using whole-exome sequencing and other techniques to identify new genes linked to Leber congenital amaurosis (LCA), autosomal recessive forms of retinitis pigmentosa (RP), and cone-rod dystrophy.


den Hollander, Anneke, PhD

Radboud University

 “Identification of Mendelian inheritance models in age-related macular degeneration by next-generation sequencing”

$79600

Module III: Dr. den Hollander is conducting genetic studies of families that have several members affected by age-related macular degeneration. She believes that these families are affected by rare genetic variants, and by identifying the variants, doctors can better predict who will get AMD and how to treat it.


Kremer, Hannie, PhD

Radboud University

 “Molecular pathogenesis of Usher syndrome and related disorders”

$72500

Module II: Dr. Kremer is investigating the role of the network of Usher proteins, including USH2A, in the retina, and how this knowledge can be used to develop targets for Usher syndrome treatments.


Ropeman, Ronald, PhD

Radboud University

 “Molecular pathology of retinal ciliopathies”

$79964

Module IV: Dr. Roepman is conducting research to better understand the molecular causes of retinal ciliopathies, which include forms of LCA and RP. His findings will lead to targets for potential treatments.


Theelen, Thomas, MD, PhD

Radboud University

 “Functional retinal imaging and gene therapy”

$73500

Module V: Dr. Theelen is using high-resolution imaging tools for monitoring retinal disease progression and determining outcomes for potential treatments in clinical trials. These technologies can also help determine which areas of the retina are appropriate for treatment.


Oregon Health and Science University Research Center for the Study of Retinal Degenerative Diseases


Chiang, John, MD

Oregon Health Science University

 “Genetic Testing Resource”

$47500

Module V: Dr. Chiang is using whole-exome sequencing to identify new genes linked to Leber congenital amaurosis.  He is also conducting genetic testing to help identify patients for future clinical trials of treatments for Usher syndrome, retinoschisis, and autosomal recessive retinitis pigmentosa.


Hauswirth, William, PhD

University of Florida

 “Cone Targeted Gene Therapy”

$87551

Module IV: Dr.. Hauswirth is collaborating with Dr. Neuringer in the development of AAV-based gene delivery to cone cells


Neuringer, Martha, PhD

Oregon Health Science University

 “Nonhuman Primate Models of Retinal Disease”

$120373

Module II: Dr. Neuringer is developing improved animal models for evaluating potential age-related macular degeneration treatments. She is also enhancing adeno-associated viruses (AAVs) to more effectively deliver therapeutic genes to cone cells.


Weleber, Richard, MD

Oregon Health Science University

 “Evaluation and Treatment of Retinitis Pigmentosa and Allied Disorders”

$169112

Module I: Dr. Weleber and his colleagues are using a variety of imaging and electrophysiology tools to measure retinal function and health in patients. Their work is improving our understanding of retinal diseases and prepare for clinical trials of therapies for retinoschisis, achromatopsia, and Stargardt disease.


Paris Research Center for the Study of Retinal Degenerative Diseases


Audo Isabelle, AND ZEITZ CHRISTINE, MD, PhD

INSERM

 “Comprehensive genetic analysis to decipher pathogenic mechanisms underlying cone-rod dystrophies and phenotype/genotype correlations”

$130000

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.


Léveillard, Thierry, MD, PhD

INSERM

 “Neuroprotection  of Cones in Rod-Cone dystrophies: Mechanisms of action of RdCVF”

$61000

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.


Mohand-Said, Saddek, PhD

INSERM

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

$110000

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.


Picaud, Serge, PhD

INSERM

 “Visual Restoration in Retinal Dystrophies: Optogenetics”

$60300

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


Aguirre, Gustavo, VMD, PhD

University of Pennsylvania

 “Identification, Development and Molecular Studies of New Canine Retinal Degeneration Models”

$270000

Module II: 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, VMD, PhD

University of Pennsylvania

 “Gene expression and molecular pathways in photoreceptor cell death/survival”

$55000

Module III: 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.


Beltran, William, PhD

University of Pennsylvania

 “Medical Therapy Service”

$175000

Module I: 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, Gustavo, VMD, PhD

University of Pennsylvania

 “Optimizing Therapies in Preclinical Models of Early Onset RD”

$70000

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.


Scheie Eye Institute Retinal Degeneration Research Center


Cideciyan, Artur, PhD

University of Pennsylvania

 “Outcome Measures for Clinical Trials in Stargardt Disease, Congenital Cone Diseases, and Age-related Macular Degeneration”

$70000

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, PhD

University of Florida

 “Gene Therapy forCEP290 LCA and RPE Dystrophies”

$50000

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


Jacobson, Samuel, MD, PhD

University of Pennsylvania

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

$70000

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


Palczewski, Krzysztof, PhD

Case Western Reserve University

 “Gene Transfer and Pharmacological Therapy for Retinal Degenerations”

$35000

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


Southwest Regional Research Center for the Study of Retinal Degenerative Diseases


Al-Ubaidi, Muayyad, PhD

University of Oklahoma

 “Role of Tyrosine sulfation in vision”

$56462

Module VIII: 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.


Anderson, Robert E, MD, PhD

University of Oklahoma

 “Development of Novel Nitrones for Treatment for Macular Degeneration”

$63750

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.


Birch, David G, PhD

Retina Foundation of the Southwest

 “Treatment Trials for Retinal Degenerative Diseases (RDDs)”

$99026

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.


Daiger, Stephen, PhD

University of Texas at Houston

 “Molecular Studies of Autosomal dominant Forms of RP”

$78029

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, PhD

University of Texas at Houston

 ““RetNet” Retinal Information Network”

$17037

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 indispensable resource for the international retinal research community.


Mandal, Nawajes, PhD

University of Oklahoma

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

$31875

Module IX: 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.


Wheaton, Dianna K, PhD

Retina Foundation of the Southwest

 “Southwest Eye Registry”

$98074

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.


FOUNDATION FIGHTING BLINDNESS CLINICAL RESEARCH INSTITUTE

Foundation Fighting Blindness-Clinical Research Institute

 “EZ Area”

$16000

The Foundation is conducting a study to evaluate whether the measurement of the region of degenerating retina, called EZ area, can be used as a predictive sensitive endpoint in clinical trials when evaluating new therapeutic approaches for treatment of Retinitis pigmentosa


Foundation Fighting Blindness-Clinical Research Institute

 “National Registry”

$216000

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.


Scholl, Hendrik, MD

Johns Hopkins Hospital

 “SMART Study”

$136562

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


Scholl, Hendrik, MD

Johns Hopkins Hospital

 “ProgStar Natural History Clinical Study”

$834217

Dr. 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.


Foundation Fighting Blindness-Clinical Research Institute

 “A Phase II Multiple Site, Randomized, Placebo-Controlled Trial of Oral Valproic Acid for Retinitis Pigmentosa”

$874351

Phase II clinical trial to evaluate the effectiveness of VPA in slowing the progression of the autosomal dominant form of Retinitis Pigmentosa (ADRP) and to collect safety and tolerance information


Vision Medicines

Vision Medicine, Inc

 “VM200”

$900000

The company is developing a novel drug therapy for the treatment of Stargardt disease.


BOARD OF DIRECTORS’ AWARD


Shannon Boye, PhD

University of Florida, Gainsville

Dr. Boye was the recipeint of the 2015 Board of Directors’ award to recognize her groundbreaking advancements in the development of gene therapies to save and restore vision in millions of people around the world with retinal degenerative diseases.

LLURA LIGGETT GUND AWARD


José-Alain Sahel, MD, PhD

Institute de la Vision-INSERM

This award is the Foundation’s pinnacle recognition for lifetime scientific achievement