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Funded Grants - Fiscal Year 2013

 


 

FFB CENTER GRANTS

The following 13 Foundation-funded Centers foster the collaborative efforts of independent research institutions —pairing basic scientists with clinical investigators —enabling them to better share knowledge and resources to more effectively develop promising treatments and cures.

Berman-Gund Laboratory for the Study of Retinal Degenerations

Harvard Medical School, Massachusetts

Eye and Ear Infirmary, Boston, MA

Eliot L. Berson, M.D., Center Director

$338,200

Principal Investigators: Eliot L. Berson, M.D.,

Michael A. Sandberg, Ph.D.

Module I: Dr. Berson is working to identify modifiable risk factors, including nutritional interventions, to slow the course of retinitis pigmentosa (RP) and related conditions. He recently found that oily fish (high in DHA) consumption slowed loss of visual acuity in patients with RP already taking vitamin A palmitate supplements. He is also looking at how the genes responsible for retinal diseases correlate with severity of vision loss. Dr. Berson’s lab has more than 15,000 patients and 9,000 DNA samples to use in their studies.

Module III: Dr. Berson is in search of new genes linked to retinal degenerations such as RP, Usher syndrome, and Bardet-Biedl syndrome. He is also examining the donor eyes of deceased patients to better understand the disease process for these conditions.

Module IV: Dr. Sandberg is developing gene therapies for X-linked RP (RPGR mutations) and Leber congenital amaurosis (RPGRIP1 mutations). He is performing efficacy, safety and toxicology studies in animals to move the gene therapies toward a clinical trial.

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

Cole Eye Institute, Cleveland, OH

Joe G. Hollyfield, Ph.D., Center Director

$336,371

Principal Investigators: John W. Crabb, Ph.D.,

Stephanie A. Hagström, Ph.D., Joe G. Hollyfield, Ph.D.,

Neal Peachey, Ph.D., Bela Anand-Apte, Ph.D.

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.

Module IIII: 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.

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.

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.

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

Edward S. Harkness Eye Institute, Columbia University,

New York, NY; Medical University of South Carolina,

Charleston, SC; University of Medicine and Dentistry,

New Jersey Medical School, Newark, NJ

Lucian V. Del Priore, M.D., Ph.D., Center Director

$389,580

Principal Investigators: Rando L. Allikmets, Ph.D.,

Lucian V. Del Priore, M.D., Ph.D., Janet Sparrow, Ph.D.,

Stephen Tsang, M.D., Ph.D., Marco A. Zarbin, M.D., Ph.D.

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.

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).

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.

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.

Module VI: 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.

Kearn Family Center for the Study of Retinal Degeneration

University of California, San Francisco, CA; University of

California, Berkeley, Sacramento, CA; Stanford University

School of Medicine, Stanford, CA;

Matthew M. LaVail, Ph.D., Center Director

$450,792

Principal Investigators: Jacque Duncan, M.D.,

John G. Flannery, Ph.D., Matthew M. LaVail, Ph.D.,

Austin Roorda, Ph.D., Douglas Vollrath, M.D., Ph.D.

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.

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.

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.

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

University of Michigan, Ann Arbor, MI;

University of California, San Diego, CA;

University of Massachusetts, Worcester, MA

John R. Heckenlively, M.D., Center Director

$ 362,168

Principal Investigators: Radha Ayyagari, Ph.D.,

John R. Heckenlively, M.D., Hemant Khanna, Ph.D.,

Debra A. Thompson, Ph.D., David Zacks, M.D., Ph.D.

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.

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.

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.

Module V:  Dr. Thompson is conducting research to evaluate the feasibility of gene therapy for Leber congenital amaurosis caused by mutations in the gene RDh22.

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.

Oregon Health & Science University Research Center for the Study of Retinal Degenerations

Casey Eye Institute, Portland, OR;

University of Florida, Gainesville, FL

Richard G. Weleber, M.D., Center Director

$426,536

Principal Investigators: John Chiang, Ph.D.,

Betsy Ferguson, Ph.D., William W. Hauswirth, Ph.D.,

Brett Jeffrey, Ph.D., Martha Neuringer, Ph.D.,

Richard G. Weleber, M.D.

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.

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.

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

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.

Paris Research Center for the Study of Retinal Degenerative Diseases

INSERM, Hôpital Saint-Antoine,

Hôpital des Quinze-Vingts, UCL, Paris, France

José-Alain Sahel, M.D., Center Director

$ 361,300

Principal Investigators: Thierry Léveillard, Ph.D.,

Saddek Mohand-Said, M.D., Ph.D.

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.

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.

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.

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

Cornell University, Ithaca, NY;

University of Pennsylvania, Philadelphia, PA

Gustavo Aguirre, V.M.D., Ph.D., Center Director

$520,057

Principal Investigators: Gregory M. Acland, B.V.Sc.,

Gustavo Aguirre, V.M.D., Ph.D., William Beltran, V.M.D.,

Ph.D., Andras Komaromy, D.V.M., Ph.D.,

Barbara Zangerl, D.V.M., Ph.D.

Module I: Dr. Acland is conducting studies of a variety of gene therapies based on adeno-associated viruses (AAVs) in canine models of Leber congenital amaurosis, cone and cone-rod dystrophies, achromatopsia, and recessive, dominant, and X-linked forms of retinitis pigmentosa. His work, some of which is in collaboration with biopharmaceutical companies, is directed at moving these therapies into clinical trials.

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.

Module III: Dr. Aguirre 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.

Module IV: Dr. Aguirre is evaluating an AAV-based gene therapy for achromatopsia in canines in preparation for a human study.

Radboud University Nijmegen Research Center for Studying Retinal Degenerative Diseases

University Hospital Nijmegen, Nijmegen, the Netherlands

Frans Cremers, Ph.D., Center Director

$334,347

Principal Investigators: Frans Cremers, Ph.D.,

Anneke den Hollander, Ph.D., Hannie Kremer, Ph.D.,

Ronald Roepman, Ph.D., Thomas Theelen, M.D., Ph.D.

Module I: 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.

Module II: 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.

Module III: 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.

Module IV: 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.

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.

Research Center for the Study of Retinal Degeneration

University of Iowa,

College of Medicine, Iowa City, IA

Edwin M. Stone, M.D., Ph.D., Center Director

$329,000

Principal Investigators: Michael Abramoff, M.D., Culver Boldt, M.D.,

Terry Braun, Ph.D., Arlene Drack, Ph.D., James Folk, M.D.,

Vinit Mahajan, M.D., Ph.D., Robert Mullins, Ph.D., Steve Russell, M.D.,

Todd E. Scheetz, Ph.D., Val Sheffield, M.D., Ph.D., Elliot Sohn, M.D.,

Edwin M. Stone, M.D., Ph.D., Budd Tucker, Ph.D.

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.

Module III: 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.

Module V: 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.

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

Institute of Ophthalmology, University College London,

London, England, United Kingdom

Frederick W. Fitzke, Ph.D., Center Director

$260,378

Principal Investigators: Shomi Bhattacharya, Ph.D.,

Alan Bird, M.D., Christina Chakarova, Frederick W. Fitzke,

Ph.D., Graham Holder, Ph.D., Michel Michaelides, M.D.,

Anthony T. Moore, Ph.D., Anthony Robson, M.D.,

Andrew Webster, M.D., John Yates, Ph.D.

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.

Module VI: Dr. Bhattacharya is conducting studies to identify and characterize disease-causing genetic mutations in people with a variety of conditions including Leber congenital amaurosis (RDh22) and autosomal dominant forms of retinitis pigmentosa.

Scheie Eye Institute Retinal Degeneration Research Center

University of Pennsylvania, Philadelphia, PA; University

of Florida College of Medicine, Gainesville, FL; School of

Medicine, Case Western Reserve University,

Cleveland, OH;

Samuel G. Jacobson, M.D., Ph.D., Center Director

$295,000

Principal Investigators: Gustavo Aguirre, V.M.D., Ph.D.,

William Beltran, D.V.M., Ph.D., Arthur V. Cideciyan, Ph.D.,

William W. Hauswirth, Ph.D., Samuel G. Jacobson, M.D.,

Ph.D., Krzysztof Palczewski, Ph.D.

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.

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.

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

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

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

Retina Foundation of the Southwest, Dallas, TX;

University of Oklahoma Health Sciences Center,

Oklahoma City, OK; University of Texas Health

Science Center at Houston, Houston, TX;

Robert E. Anderson, M.D., Ph.D.,

David G. Birch, Ph.D., Center Co-Directors

$444,163

Principal Investigators: Muayyad R. Al-Ubaidi, Ph.D.,

Robert E. Anderson, M.D., Ph.D., David G. Birch, Ph.D.,

Sara J. Bowne, Ph.D., Stephen P. Daiger, Ph.D.,

Dennis Hoffman, Ph.D., James F. McGinnis, Ph.D.,

Muna Naash, Ph.D., Rand Spencer, M.D.,

Lori S. Sullivan, Ph.D., Dianna K.H. Wheaton, M.S.

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.

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.

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.

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.

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.

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.

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.

RESEARCH FACILITIES

Joe Hollyfield, PhD

Cole Eye Institute

$200,000

The pathophysiology facility collects retinal tissue from deceased individuals around the U.S. who were affected by retinal diseases. The tissues are shared with researchers from around the world, who are working to better understand the genetic and molecular causes of retinal diseases and how to treat them.

ALAN LATIES CAREER DEVELOPMENT PROGRAM

Career Development Awards support talented and ambitious clinician-scientists who are entering the field of retinal disease research. Clinician-scientists are critical to the advancement of retinal research because they are uniquely qualified to conduct clinical trials, they provide critical patient care, and they are strongly committed to the development of innovative treatments and cures.

Michael Grassi, MD, PhD

University of Illinois at Chicago

$75,000

Dr. Grassi is using an automated process to screen hundreds of thousands of molecules to find those that may preserve vision in people with retinitis pigmentosa. Promising molecules will be further studied in preclinical models to better determine their safety and potential for saving vision.

Mark Kleinman, MD

University of Kentucky

$75,000

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.

Michel Michaelides, MD, FRCOphth

Moorfields / University College London

$75,000

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.

Mark Pennesi, MD, PhD

OHSU

$75,000

Dr. Pennesi is conducting lab studies of various drugs, some of which are already FDA approved for non-retinal conditions, and may increase the production of vision-preserving proteins in the retina for a wide range of diseases.

ELIZABETH ANDERSON CAREER DEVELOPMENT AWARD

Christine Kay, MD

University of Florida

$75,000

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.

MARJORIE C. ADAMS WOMEN’S CAREER DEVELOPMENT AWARD

Isabelle Audo, MD, PhD

CHNO des Quatre-vingts

$75,000

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

Arlene Drack, MD

University of Iowa

$75,000

Dr. Drack is developing a gene therapy based on an adeno-associated virus  for Bardet-Biedl syndrome (BBS1 mutations). She is also developing genetic tests for all known BBS genes.

Ruifang Sui, MD, PhD

Peking Union Medical College Hospital

$75,000

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.

CLINICAL RESEARCH FELLOWSHIP AWARD

Tharikarn Sujirakul, MD

Columbia University

$65,000

Dr. Tharikarn will be using a variety of tools — including electroretinograms, optical coherence tomography, adaptive optic imaging, and microperimetry — to establish accurate markers for disease progression in people with retinitis pigmentosa.

VETERINARIAN RESIDENTS PROGRAM AWARD

Keiko Miyadera, DVM

University of Pennsylvania

$28,000

Dr. Miyadera is looking for modifier genes in canine models of retinal degeneration.  Identification of modifier genes may provide targets for treatments to preserve vision.

HOWARD HUGHES MEDICAL INSTITUTE-FOUNDATION FIGHTING BLINDNESS MEDICAL FELLOWSHIP AWARD

Erika Ellis

University of California, San Diego

$40,000

Ms. Ellis will be investigating how ganglion cells refine and package visual information and send it through the optic nerve to the brain, where final images are created and interpreted. Her findings will be helpful in the design and development of optogenetic therapies.

INDIVIDUAL INVESTIGATOR AND COLLABORATOR AWARDS

CELLULAR AND MOLECULAR MECHANISMS OF DISEASE

Wolfgang Baehr, PhD

University of Utah

$57,000

Dr. Baehr is developing a gene therapy based on an adeno-associated virus for autosomal dominant retinitis pigmentosa (GUCA1A mutations). He is also developing mouse models of X-linked retinitis pigmentosa (RP2 and ARL3 mutations).

Hemant Khanna, PhD

University of Massachusetts Medical School

$100,000

Dr. Khanna is developing a gene therapy for Leber congenital amaurosis caused by mutations in the CEP290 gene. Because the entire CEP290 is too large for delivery by an adeno-associated virus, he is working to replace only the defective portion of the gene.

Donald Zack, MD, PhD

Johns Hopkins University School of Medicine

$100,000

Dr. Zack is using next-generation sequencing technology to search for changes in genetic expression that lead to age-related macular degeneration (AMD). His findings may provide the basis for a simple blood test for AMD diagnosis and prognosis. His work may also lead to new insights into how and why AMD occurs.

CLINICAL: STRUCTURE AND FUNCTION STUDIES

Jean Bennett, MD, PhD

University of Pennsylvania

$100,000

Infrastructural Support for Clinical research at CHOP-Pennsylvania University

Stephen Burns, PhD

Indiana University

$99,964

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.

Joseph Carroll, PhD

Medical College of Wisconsin

$99,553

Dr. Carroll is using adaptive optics imaging tools to better understand retinal changes in people with choroideremia, achromatopsia and blue cone monochromacy.

Austin Roorda, PhD

University of California, San Francisco

$99,923

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.

R. Theodore Smith, MD, PhD

New York University

$100,000

Dr. Smith is conducting a number of clinical studies to better understand reticular macular degeneration, and why it predisposes people to advanced forms of age-related macular degeneration (AMD), most notably geographic atrophy (advanced dry AMD).

Dianna Wheaton, PhD

Retina Foundation of the Southwest

$50,086

Planning Grant to determine the prevalence of inherited retinal degenerations in Texas

GENE THERAPY

John Ash, PhD

University of Florida

$100,000

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.

Jean Bennett, PhD

University of Pennsylvania

Translational Research Acceleration Program

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

Eliot Berson, MD

Massachusetts Eye and Ear Infirmary

Translational Research Acceleration Program

Dr. Berson 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.

Shannon Boye, PhD

University of Florida

$100,000

Dr. Boye is developing a combination gene delivery system which involves subretinal delivery of corrective genes to the peripheral retina and intravitreal delivery of the treatment to the fovea (central retina). Intravitreal delivery is a safer and less invasive approach for gene delivery to the fovea, which can be made fragile by diseases such as Leber congenital amaurosis and achromatopsia.

Jeffrey Chulay, MD

AGTC

$429,326

Translational Research Acceleration Program

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.

Rob Collin, PhD

Radboud University

$99,681

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

John Flannery, PhD

University of California, Berkeley

$100,000

Dr. Flannery is developing a gene therapy based on an adeno-associated virus (AAV) for Leber congenital amaurosis caused by mutations in CRB1.  A critical aim for his project is to develop an AAV that can deliver the large DNA (CRB1) cargo.

Karina Guziewicz, PhD

University of Pennsylvania

$70,000

Dr. Guziewicz is conducting preclinical studies for the development of a gene therapy based on an adeno-associated virus for Best disease.

William Hauswirth, PhD

University of Florida

$225,000

Dr. Hauswirth is developing a gene therapy based on an adeno-associated virus for X-linked retinitis pigmentosa (RPGR mutations) in preparation for requesting authorization from the FDA to launch a clinical trial.

William Hauswirth, PhD

University of Florida

Translational Research Acceleration Program

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.

Andras Komaromy, PhD

Michigan State University

$153585

Dr. Komaromy is evaluating the safety and efficacy of gene therapy for achromatopsia, a retinal disease causing day blindness, in canine models of the condition.

Alfred Lewin, PhD

University of Florida

$100,000

Translational Research Acceleration Program

Dr. Lewin is developing a two-step, RNA-replacement gene therapy system for autosomal dominant retinitis pigmentosa caused by mutations in the rhodopsin gene. One step blocks the production of the mutant rhodopsin protein. The other step leads to the production of the normal rhodopsin protein.

Muna Naash, PhD

Oklahoma University Health Science Center

Oklahoma City, OK

Translational Research Acceleration Program

Dr. Naash is developing a nanoparticle-based (large capacity) gene therapy for the autosomal dominant form of retinitis pigmentosa caused by mutations in PRPH2 (RDS). Nanoparticles have the advantage of being able to deliver large therapeutic genes.

José-Alain Sahel, MD

University Pierre Marie Curie

Translational Research Acceleration Program

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.

David Schaffer, PhD

University of California, Berkeley

$100,000

Translational Research Acceleration Program

Dr. Schaffer is working to determine if gene delivery systems based on adeno-associated viruses can be modified to carry larger therapeutic genes.

Debra Thompson, PhD

University of Michigan

$75,000

Dr. Thompson is developing a gene therapy based on an adeno-associated virus for the treatment of X-linked retinitis pigmentosa caused by mutations in RPGR.

Luk Vandenberghe, PhD

MEEI

$92,965

Translational Research Acceleration Program

Dr. Vandenberghe is exploring different approaches for increasing the genetic cargo capacities of gene delivery systems based on adeno-associated viruses.

Jan Wijnholds, PhD

Netherlands Institute for Neuroscience

$100,000

Dr. Wijnholds is developing a gene therapy based on an adeno-associated virus (AAV) for Leber congenital amaurosis caused by mutations in CRB1.  A critical aim for his project is to develop an AAV that can deliver the large DNA (CRB1) cargo.

Jan Wijnholds, PhD

Netherlands Institute for Neuroscience

$100,000

Dr. Wijnholds is developing and optimizing adeno-associated viral gene therapy systems for treating Leber congenital amaurosis and retinitis pigmentosa caused by mutations in the CRB1.

Jun Yang, PhD

University of Utah

$50,000

Dr. Yang is developing a gene therapy based on an adeno-associated virus for the treatment of Usher syndrome type 2A.

GENETICS

Rui Chen, PhD

Baylor College of Medicine

$100,000

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.

Stephen Daiger, PhD

University of Texas

$98,651

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.

Michael Gorin, MD, PhD

University of California, Los Angeles

$104,827

Dr. Gorin is clinically and genetically characterizing people with Stargardt disease to better understand the condition and identify possible participants for future clinical trials.

Qin Liu, PhD

Massachusetts Eye and Ear Infirmary

$100,000

Dr. Liu is testing the capacity of high-throughput next generation sequencing technology for identifying new genes that cause retinal degeneration and finding known genes in affected individuals.

Johanna Seddon, PhD

Tufts Medical Center

$100,000

Dr. Seddon is working to identify variations in genes that lead to geographic atrophy (advanced dry age-related macular degeneration) to develop new therapeutic and preventive approaches as well as improve diagnosis of the condition.

Dror Sharon, PhD

Hadassah-Hebrew University Medical Center

$48,000

Dr. Sharon is conducting research to identify the most common retinal degeneration genes in the Israeli and Palestinian populations, and studying the mechanisms by which the genes cause the diseases.

Edwin Stone, MD, PhD

University of Iowa

$1,000,000

Translational Research Acceleration Program

Dr. Stone is sufficiently clarifying Retinitis Pigmentosa due to mutations in the MAK gene to make sensible recommendations for development of treatments.

Paul Wong, PhD

Emory University

$90,068

Dr. Wong is researching the causes of North Carolina macular dystrophy, an inherited, juvenile form of  macular degeneration. His primary focus is to find the gene(s) linked to the condition.

NOVEL MEDICAL THERAPY

Jayakrishna Ambati, MD

University of Kentucky

$90,738

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.

Craig Beeson, PhD

MitoChem Therapeutics

$589,667

Translational Research Acceleration Program

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.

Paul Bernstein, MD, PhD

University of Utah

$65,000

Dr. Bernstein is researching how defects in the gene ELOVL4 lead to autosomal dominant Stargardt disease and resulting vision loss. His work includes investigation into why the disease leads to altered levels of beneficial fatty acids in the mouse retina.

Deborah Ferrington, PhD

University of Minnesota

$100,000

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.

Muna Naash, PhD

University of Oklahoma

$100,000

Dr. Naash is developing a nanoparticle-based gene therapy for Usher syndrome type 2A (USH2A). Nanoparticles have the capacity to deliver large genes (e.g., USH2A), which current virus-based gene therapies can’t deliver.

Uwe Wolfrum, PhD

Johannes Gutenberg University of Mainz

$103,000

Dr. Wolfrum is developing a molecule that can read through certain mutations in genes, so that the gene functions normally, encoding the healthy protein, and correcting the retinal disease. His first disease target is Usher syndrome type 1C.

REGENERATIVE MEDICINE

Eyal Banin, MD, PhD

Hadassah-Hebrew University Medical Center

$100,000

Dr. Banin is exploring the immune properties of retinal pigment epithelial cells derived from stem cells to increase their potential for survival and integration when used in transplantation treatments for dry age-related macular degeneration and Best disease.

Marco Zarbin, MD, PhD

University of Medicine and Dentistry New Jersey

$100,000

Dr. Zarbin is identifying biological agents that can improve the survival and integration of transplanted retinal pigment epithelial cells for the treatment of age-related macular degeneration.

MEETINGS AND WORKSHOPS

University of Oklahoma

$30,000

The XVIth International Symposium on Retinal Degeneration will be held July 2014.  The conference will convene the world's leading retinal degeneration scientists. FFB's support provides travel awards to young investigators to attend the conference.

American Society of Gene and Cell Therapy

$10,000

Translational Research Acceleration Program

This meeting gathered the world's leaders  in the field of cell and gene therapy to further the understanding, development and application of genetic and cellular therapies as well as promoted professional and public education in these fields.

BOARD OF DIRECTOR’S AWARD

Gustavo Aguirre, VM PhD

William Beltran, VM PhD

University of Pennsylvania

This award recognizes an investigator’s outstanding progress in research that is advancing sight-saving treatments and cures

LLURA LIGGETT GUND AWARD

William Hauswirth, PhD

University of Florida

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

FOUNDATION FIGHTING BLINDNESS CLINICAL RESEARCH INSTITUTE

CLINICAL SUPPORT

Hendrik Scholl, MA, MD

Johns Hopkins Hospital

$1,037,155

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.

MY RETINA TRACKER REGISTRY

$156,177

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.

CLINICAL TRIAL

Foundation Fighting Blindness-Clinical Research Institute

$2,275,155

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

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