2014 Funded Grants


 

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

Massachusetts Eye and Ear Infirmary

$500,000

Eric Pierce, MD, Ph.D.
LUK Vandenberghe, MD.

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.

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.

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.

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.,

Bela Anand-Apte, 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

$370,880

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

$451,166

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

$424,536

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

$500,000

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

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

Tatyana Applebaum Ph.D.,

William BeltranPh.D.

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.

Dr. Applebaum (formerly Dr. Sem Genini) is performing research to find new potential drugs that modulate cell death and survival processes in photoreceptors, and can be tested in the dog models. These are animals that have naturally-occurring forms of retinal degeneration that recapitulate very closely the human conditions. Her work applies to a variety of retinal degenerative diseases including RP and age-related macular degeneration.

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.

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

$444,253

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.

Sai Chayala, MD

University of North Carolina

$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.

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."

Ruifang Sui, MD, PhD

Peking Union Medical College Hospital

$100,000

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.

 

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

Brian Hafler, MD

Massachusetts Eye and Ear Infirmary

$65,000

Mutations in the gene PRPF31 can cause retinitis pigmentosa. Dr. Hafler is receiving a career development award to study how these mutations affect the processing (splicing) of genetic information into messages that retinal cells use to make proteins that are essential for vision.

Nieraj Jain, MD

OHSU

$43,333

Dr. Jain is receiving a career development award to correlate changes in retinal structure obtained through optical coherence tomography imaging with vision loss in people affected by choroideremia. His goal is to identify an outcome measure that can accelerate the advancement of emerging treatments through clinical trials.

Joaquin Tosi, MD

Kresege Eye Institute

$65,000

Dr. Tosi is receiving a career development award to study retinal degeneration and vision loss in pediatric patients. His findings will help better diagnose patients, understand disease progression, and design human studies for emerging therapies.

VETERINARIAN RESIDENTS PROGRAM AWARD

Keiko Miyadera, DVM

University of Pennsylvania

$28,000

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

 

HOWARD HUGHES MEDICAL INSTITUTE-FOUNDATION FIGHTING BLINDNESS MEDICAL FELLOWSHIP AWARD

Adrian Au

Cleveland Clinic Foundation

$40,000

Mutations known as premature stop codons in the gene TULP1 are a cause of retinitis pigmentosa and Leber congenital Amaurosis. Mr. Au has received a career development award to study why these genetic defects lead to vision loss. He will also be testing potential vision-saving drugs for people with these types of mutations in TULP1 and a variety of other retinal-disease genes.

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.

Andrew Zheng

Columbia University

$40,000

Defects in the enzyme PDE6 are a common cause of retinitis pigmentosa (RP). Researchers are conducting lab studies of gene therapies to treat people with RP caused by mutations in PDE6 genes. Despite some success in restoring vision, rod degeneration still occurs with gene therapy. Mr. Zheng is receiving a career development award to augment PDE6 gene therapies with short hairpin RNAs to reduce calcium influx and prevent rod degeneration.

INDIVIDUAL INVESTIGATOR AND COLLABORATOR AWARDS

CELLULAR AND MOLECULAR MECHANISMS OF DISEASE

Xi-Qin Ding, PhD

University of Oklahoma

$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.

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.

Jonathan Staley, PhD

University of Chicago

$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.

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 SUPPORT

Peter Campochiaro, MD

Johns Hopkins University School of Medicine

$39,000

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

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.

Austin Roorda, PhD

University of California, San Francisco

$100,001

"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).

GENE THERAPY

Gustavo Aguirre, VMD, PhD

University of Pennsylvania

Foundation Fighting Blindness

$20,057

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

Eliot Berson, MD

Massachusetts Eye and Ear Infirmary

Translational Research Acceleration Program

$374,614

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

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

Foundation Fighting Blindness

$100,000

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

Translational Research Acceleration Program

$20,000

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

William Hauswirth, PhD

University of Florida

Translational Research Acceleration Program

$546,404

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.

Andras Komaromy, PhD

Michigan State University

Foundation Fighting Blindness

$212,471

Dr. Komaromy is evaluating an AAV-based gene therapy for achromatopsia in canines in preparation for a human study.

Richard Kramer, PhD

University of California, Berkeley

Translational Research Acceleration Program

$19,822

"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."

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.

Debra Thompson, PhD

University of Michigan

Foundation Fighting Blindness

$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.

Jan Wijnholds, PhD

Netherlands Institute for Neuroscience

Foundation Fighting Blindness

$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.

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.

David Gamm, MD, PhD

University of Wisconsin-Madison

$334,569

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

Ido Perlman, PhD

Technion-Israel Institute of Technology

$200,000

Dr. Perlman is leading a team of researchers in an Israeli consortium to genetically diagnose the vast majority of Israeli RDD patients and to test gene-based therapeutic modalities on selected groups of patients.

Eric Pierce, MD, PhD

Massachusetts Eye and Ear Infirmary

$237,593

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

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.

Edwin Stone, MD, PhD

University of Iowa

$669,000

Translational Research Acceleration Program

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.

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.

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.

Craig Beeson, PhD

MitoChem Therapeutics

$586,667

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.

James Fadool, PhD

Florida State University

$99,997

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

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.

Jennifer Lentz, PhD

Louisiana State University

$95,987

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.

Jeffery Mum, PhD

Johns Hopkins University School of Medicine

$22,500

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.

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.

José-Alain Sahel, PhD

University of Pierre and Marie Curie

$100,000

Drs. José Sahel and Thierry Léveillard have shown that RdCVF has strong potential for preserving and restoring cones, the cells in the retina that provide central and color vision. The current study is to validate the two newly identified RdCVF variants (RdCVF2v and RdCVF2Lv1) as therapeutic agents for RP using a gene therapy that provides sustained delivery of RdCVF, and which may be beneficial to people with a broad range of retinal diseases, including several forms of retinitis pigmentosa.

Donald Zack, MD, PhD

Johns Hopkins University School of Medicine

$138,994

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

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.

David Gamm, MD, PhD

University of Wisconsin-Madison

$10,000

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.

Tom Reh, PhD

University of Washington

$97,251

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.

Michael Young, PhD

Schepens Eye Research Institute

$150,000

Dr. Young is conducting pre-clinical studies to investigate the long-term survival of pig Retinal Progenitor Cells after subretinal transplantation. Additionally, this study will inform the impact of cells needed on transplantation success.

Marco Zarbin, MD, PhD

Rutgers University

$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.

BOARD OF DIRECTOR’S AWARD

Davis Birch, PhD

Retina Foundation of the Southwest

Dr. Birch was the 2014 recipients of the Board of Directors' award to recognize his foresight and ingenuity in the development of a potential clinical trial endpoint known as EZ Area for quickly and accurately measuring disease progression and therapy efficacy in people with retinitis pigmentosa.

 

FOUNDATION FIGHTING BLINDNESS CLINICAL RESEARCH INSTITUTE

CLINICAL SUPPORT

Hendrik Scholl, MA, MD

Johns Hopkins Hospital

$1,144,994

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. This project includes two ancillary studies: SMART and Prog4 to investigate photoreceptor sensitivity and to include Stargardt 4 patients, respectively.

Foundation Fighting Blindness-Clinical Research Institute

$126,195

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.

Foundation Fighting Blindness-Clinical Research Institute

$243,838

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

CLINICAL: STRUCTURE AND FUNCTION STUDIES

$90,000

Dr. Stewart company, Dual Align Laboratories is working to remove a limitation to adaptive optic image processing with an advanced software tool, i2k Retina AO, that will reduce the time required to build an image montage from several hours to just a few minutes.

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