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FY12 Funded Grants
CENTER GRANTS
The following 14 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 correlates 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
$211,652
Principal Investigators: John W. Crabb, Ph.D.,
Stephanie A.Hagström, Ph.D., Joe G. Hollyfield, Ph.D.,
Neal Peachey, Ph.D.
Module I: Dr. Hollyfield has created a mouse model of geographic atrophy (advanced dry age-related macular degeneration; AMD), which can be used to evaluate therapies to prevent or limit the progression of the disease and associated vision loss.
Module III: Dr. Crabb is searching for biomarkers (such as proteins or antibodies) in the blood, which can indicate if a person has susceptibility to AMD, so that a future therapy can be administered to prevent the disease and related vision loss.
Module IV: Dr. Hagstrom is looking at the proteins and other components found in drusen, which are the waste products in the retina associated with AMD. By studying the components of drusen, she can better understand if individuals at-risk for AMD could be identified by gene changes that affect the normal function of these proteins, why they cause the condition, and how to prevent vision loss.
Module V: Dr. Peachey is conducting studies of electroretinograms (ERGs) in mouse models of retinitis pigmentosa (RP) to better understand how they can be used to measure retinal function in humans with RP.
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
$379,381
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 (waste deposits) 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
$450,627
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
$ 412,168
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 RDH12.
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 o f 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
$124,444
Principal Investigators: Thierry Léveillard, Ph.D.,
Saddek Mohand-Said, M.D., Ph.D.
Module I: 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 IV: Drs. Sahel and Mohand-Said are structurally and functionally evaluating the retinas of people affected by retinal diseases for their potential participation in clinical trials for RdCVF and corrective gene therapies for Leber congenital amaurosis, Stargardt disease, and Usher syndrome.
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.,
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
$311,797
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 at the Institute for Vision Research 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 animals. 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 (RDH12) 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
$280,376
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 providing analysis and consultation for patients affected by a wide variety of retinal degenerative diseases. His work is helping researchers better understand the conditions and design clinical trials. His efforts have led to increased knowledge of several forms of Leber congenital amaurosis (LCA), Usher syndrome, and Bardet-Biedl syndrome.
Module II: Dr.Cideciyan is developing innovative imaging and psychophysical technologies to evaluate the effect of potential treatments in clinical trials, including a human study of gene therapy for LCA. His work is also helping identify outcome measures for forthcoming human studies.
Module III: Dr. Hauswirth is developing gene therapies for LCA (CEP290, GC1), autosomal dominant Stargardt disease, and dry age-related macular degeneration. He is focusing on therapies that are delivered to cone cells.
Module IV: Dr. Palczewski is gaining more knowledge of the visual cycle, the complex biochemical process that makes vision possible by converting light into electrical signals. His findings are providing targets for treatments for disease in which the visual cycle is compromised. These conditions include Stargardt disease, cone-rod dystrophy, and some forms of LCA.
Module V: Dr. Aguirre is studying canine models of retinal diseases, including LCA, cone-rod dystrophy, and X-linked retinitis pigmentosa to gain a better understanding of how photoreceptor degeneration affects other cell layers in the retina. His findings are helping researchers determine optimal treatment approaches and timing of therapy delivery.
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
$431,463
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 and his colleagues are conducting a variety of clinical trials for potential therapies including: Neurotech’s encapsulated cell technology (ECT-CNTF) for retinitis pigmentosa (RP), DHA for X-linked RP, valproic acid for autosomal dominant RP, and Second Sight’s ARGUS II retinal prosthesis.
Module II: Dr. Dianna Wheaton is maintaining and expanding the Southwest Eye Registry, a genetic and clinical database for people with retinal degenerations. The Registry helps retinal researchers better understand diseases, find new disease-causing genes, and identify participants for human studies.
Module V: 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.
Module VI: 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 VII: Dr. Anderson is investigating the function of the gene ELOVL4 in which mutations cause autosomal dominant Stargardt disease. He is also evaluating DHA as a potential therapy.
Module VIII: Dr. McGinnis is investigating the use of a nanoparticle-based therapy (nanoceria) for preventing oxidative damage and vision loss caused by RP, Usher syndrome, and age-related macular degeneration.
Module IX: Dr. Al-Ubaidi is conducting research to determine if modification of the protein TPST can help prevent age-related macular degeneration.
Module X: Dr. Muna Naash is evaluating the safety and efficacy of nanoparticles as a delivery system for corrective gene therapies for Leber congenital amaurosis (RPE65) and autosomal dominant RP (RDS).
Wilmer Eye Institute Research Center for the Study of Retinal Degenerative Diseases
Johns Hopkins University, Baltimore, MD;
Duke University, Durham, NC;
Kennedy Krieger Institute, Baltimore, MD$390,149
Principal Investigators: Peter A. Campochiaro, M.D.,
Nicholas Katsanis, Ph.D., Nicholas Marsh-Armstrong, Ph.D.,
Jeremy Nathans, M.D., Ph.D., Amir Rattner, Ph.D., Solomon
Snyder, M.D., M. Valeria Canto-Soler, Ph.D.,
Jennifer U. Sung, M.D., Donald J. Zack, M.D., Ph.D.
Module I: Dr. Katsanis is searching for genes that confer a higher risk of developing age-related macular degeneration (AMD), including genes that are involved in blood vessel growth, cholesterol transport and metabolism, and the complement (innate immune) system.
Module III: Drs. Rattner and Nathans are investigating the control of retinal blood vessel (vascular) development in the retina. Abnormalities in retinal vascular structure, function, and growth play a central role in major ocular diseases such as AMD.
Module IV: Dr. Marsh-Armstrong has developed a frog model of autosomal dominant retinitis pigmentosa (RP) and is using it to evaluate the vision-protecting effects of different proteins and chemical compounds.
Module V: Dr. Campochiaro is investigating the potential for the two related compounds NAC and NACA to protect retinas affected by RP from oxidative stress, thereby preventing photoreceptor degeneration and vision loss.
Module VII: Dr. Zack is evaluating various drugs and compounds for their ability to slow or prevent retinal degeneration and vision loss. By understanding the mechanisms of action of promising molecules, he can develop treatment candidates that have strong potential for saving vision in humans with retinal diseases.
Module VIII: Dr. Campochiaro is genetically engineering mice to produce proteins that protect retinas exposed to oxidative damage. This work could lead to gene therapies or other biological treatments to prevent vision loss from RP.
RESEARCH FACILITIES
Pathophysiology Facility for the Study of Retinal Degenerative Diseases
Cole Eye Institute
Joe G. Hollyfield, Ph.D.
Cleveland Clinic, Cleveland, OH
$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, M.D., Ph.D.
University of Illinois at Chicago,
Chicago, IL
$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, M.D.
University of Kentucky
Louisville, KY
$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, M.D.
Moorfields Eye Hospital,
University College London
London, England
$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, M.D., Ph.D.
Oregon Health & Science University,
Portland, OR
$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.
David Telander, M.D., Ph.D.
University of California,
Davis, CA
$8,725
Dr. Telander is working to understand how stem cells migrate to the appropriate places in the retina to replace damaged tissue. A better understanding of how these cells migrate will enable researchers to develop effective therapies for conditions such as age-related macular degeneration and retinitis pigmentosa.
Stephen H. Tsang, M.D., Ph.D.
Edward S. Harkness Eye Institute,
Columbia University Medical Center,
New York, NY
$75,000
Dr. Tsang is investigating potential stem cell transplantation treatments for age-related macular degeneration, retinitis pigmentosa and Leber congenital amaurosis.
ELIZABETH ANDERSON CAREER DEVELOPMENT AWARD
Christine Kay, M.D.
University of Florida
Gainesville, FL
$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, M.D., Ph.D.
Centre Hospitalier National
d’Ophtalmologie des Quatre-Vingts,
Paris, France
$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, M.D.
University of Iowa,
Iowa City, IA
$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, M.D., Ph.D.
Peking Union Medical
College Hospital,
Peking, China
$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
Benjamin Bakall, M.D., Ph.D.
University of Iowa,
Iowa City, IA
$65,000
Dr. Bakall is performing a number of lab, clinical and genetic studies to better understand and diagnose retinal degenerations.
Shiri Zayit-Soudry, M.D.
University of California, San Francisco
San Francisco, CA
$65,000
Dr. Zayit-Soudry is evaluating the adaptive optics scanning laser ophthalmosocope (AOSLO) as a tool for quickly and effectively measuring the effectiveness of emerging treatments on the health and population of cone cells in retinal diseases such as retinitis pigmentosa.
Paul Yang, M.D., Ph.D.
Oregon Health & Science University
Portland, OR
$65,000
Dr. Yang is conducting lab studies to evaluate the safety and effectiveness of immunomodulatory therapies for retinitis pigmentosa.
HOWARD HUGHES MEDICAL INSTITUTE - FOUNDATION FIGHTING BLINDNESS MEDICAL FELLOWSHIP AWARD
Haben Kafella
Yale University,
New Haven, CT
$40,000
Dr. Kafella is using induced pluripotent stem cells as a testing platform for potential drugs and compounds for the treatment of age-related macular degeneration.
Keirnan Willett
University of Pennsylvania
Philadelphia, PA
$40,000
Dr. Willett is conducting lab research for the development of an optogentic gene therapy to restore vision in people who have lost most or all of their vision to retinitis pigmentosa.
INDIVIDUAL INVESTIGATOR AND COLLABORATOR AWARDS
CELLULAR AND MOLECULAR MECHANISMS OF DISEASE
Wolfgang Baehr, Ph.D.
University of Utah,
Salt Lake City, UT
$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, Ph.D.
University of Massachusetts Medical School
Worcester, MA
$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, M.D., Ph.D.
Johns Hopkins University School of Medicine
Baltimore, MD
$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
Joseph Carroll, Ph.D.
Medical College of Wisconsin,
Milwaukee, WI
$99,254
Dr. Carroll is using adaptive optics imaging tools to better understand retinal changes in people with choroideremia, achromatopsia and blue cone monochromacy.
Gerald A. Fishman, M.D.
Chicago Lighthouse for People Who are Blind or Visually Impaired,
Chicago, IL
Translational Research Acceleration Program
$32,675
Dr. Fishman is identifying patients for Dr. Ed Stone’s (University of Iowa) screening studies to find their disease-causing genes as well as new genes linked to retinal degenerations such as retinitis pigmentosa, Usher syndrome, Stargardt disease, Best disease, Leber congenital amaurosis and Bardet-Biedl syndrome.
Samuel Jacobson, M.D., Ph.D.
University of Pennsylvania,
Philadelphia, PA
Translational Research
Acceleration Program
$32,675
Dr. Jacobson is identifying patients for Dr. Ed Stone’s (University of Iowa) screening studies to find their disease-causing genes as well as new genes linked to retinal degenerations such as retinitis pigmentosa, Usher syndrome, Stargardt disease, Best disease, Leber congenital amaurosis and Bardet-Biedl syndrome.
R. Theodore Smith, M.D., Ph.D.
New York University
New York City, New York
$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).
Richard Weleber, M.D.
Oregon Health & Science
University, Portland, OR
Translational Research
Acceleration Program
$32,675
Dr. Weleber is identifiying patients for Dr. Ed Stone’s (University of Iowa) screening studies to find their disease-causing genes as well as new genes linked to retinal degenerations such as retinitis pigmentosa, Usher syndrome, Stargardt disease, Best disease, Leber congenital amaurosis and Bardet-Biedl syndrome.
GENE THERAPY
Jean Bennett, M.D., Ph.D.
University of Pennsylvania
Philadelphia, PA
Translational Research Acceleration Program
$500,000
Eliot Berson, M.D.
Massachusetts Eye and Ear Infirmary,
Harvard Medical School,
Boston, MA
Translational Research Acceleration Program
$749,227
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 congential amaurosis caused by mutations in RPGRIP1.
Shannon Boye, Ph.D.
University of Florida
Gainesville, FL
$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.
Dominic Cosgrove, Ph.D.
Boys Town National Research Hospital,
Center for Hereditary Communication Disorders
Omaha, NE
$65,000
Dr. Cosgrove performed lab studies of a gene therapy for Usher syndrome type 1B in support of Oxford BioMedica’s UshStat® gene therapy clinical trial.
Jeffrey Chulay, M.D.
Applied Genetics Technologies Corp.
Alachua, FL
Translational Research Acceleration Program
$287,320
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.
Karina Guziewicz, Ph.D.
University of Pennsylvania,
Philadelphia, PA
$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, Ph.D.
University of Florida,
Gainesville, FL
Translational Research Acceleration Program
$242,378
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.
William Hauswirth, Ph.D.
University of Florida,
Gainesville, FL
$125,000
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, Ph.D.
University of Florida,
Gainesville, FL
$124,220
Samuel Jacobson, M.D., Ph.D.
University of Pennsylvania,
Philadelphia, PA
$117,083
Dr. Jacobson characterized patients with Usher syndrome type 1B to establish potential protocols and endpoints for future clinical trials.
Alfred Lewin, Ph.D.
University of Florida,
Gainesville, FL
Translational Research Acceleration Program
$100,000
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, Ph.D.
University of Oklahoma Health Sciences Center,
Oklahoma City, OK
Translational Research Acceleration Program
$392,685
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.
Martha Neuringer, Ph.D.
Oregon Health and Science University
Portland, OR
$212,680
Dr. Neuringer is evaluating a gene therapy based on an adeno-associated virus for X-linked retinoschisis in non-human primate animal models to support Dr. Chulay's studies in preparation for requesting authorization from the FDA to launch a clinical trial.
Thomas Rea, BS, MS
RetroSense Therapeutics
Ann Arbor, MI
$350,000
José-Alain Sahel, M.D.
INSERM, Hôpital Saint-Antoine,
Hôpital des Quinze-Vingts, UCL,
Paris, France
Translational Research Acceleration Program
$466,961
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, Ph.D.
University of California,
Berkeley, CA
Translational Research Acceleration Program
$100,000
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, Ph.D.
W.K. Kellogg Eye Center,
University of Michigan,
Ann Arbor, MI
$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
Massachusetts Eye and Ear Infirmary,
Harvard Medical School,
Boston, MA
Translational Research Acceleration Program
$95,525
Dr. Vandenberghe is exploring different approaches for increasing the genetic cargo capacities of gene delivery systems based on adeno-associated viruses.
Jan Wijnholds, Ph.D.
Netherlands Institute for Neuroscience
Amsterdam, The Netherlands
$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.
David Williams, Ph.D.
University of California,
Los Angeles, CA
$88,212
Dr. Williams conducted lab studies of a gene therapy based on an adeno-associated virus for the treatment of Usher syndrome type 1B.
Jun Yang, Ph.D.
University of Utah,
Salt Lake City, UT
$50,000
Dr. Yang is developing a gene therapy based on an adeno-associated virus for the treatment of Usher syndrome type 2A.
GENETICS
Stephen P. Daiger, Ph.D.
University of Texas Health
Science Center at Houston,
Houston, TX
$97,307
Dr. Daiger is conducting genetic studies to better understand why the severity of vision loss from X-linked retinitis pigmentosa caused by mutations in RPGR can vary so much between individuals and even people within the same family.
Stephen P. Daiger, Ph.D.,
Sara J. Browne, Ph.D.,
Lori S. Sullivan, Ph.D.
University of Texas Health
Science Center at Houston,
Houston, TX
Translational Research Acceleration Program
$310,576
Dr. Daiger and his team are using next generation genetic sequencing to accelerate the identification of new genes linked to autosomal dominant retinitis pigmentosa (adRP). The group is also working to more quickly identify known genes in affected families and individuals.
Anneke den Hollander, Ph.D.
Radboud University, Nijmegen
Medical Centre,
Nijmegen, Netherlands
$100,000
Dr. den Hollander is using next generation sequencing to identify new genes linked to Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
Albert Edwards, M.D., Ph.D.
University of Oregon,
Eugene, OR
$87,061
Dr. Edwards is conducting research to identify genetic factors that increase a person’s risk for age-related macular degeneration.
Michael Gorin, M.D., Ph.D.
University of California,
Los Angeles, CA
$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, Ph.D.
Massachusetts Eye and Ear Infirmary,
Harvard Medical School,
Boston, MA
$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, Ph.D.
Tufts Medical Center
Boston, MA
$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, Ph.D.
Hadassah-Hebrew University
Medical Center,
Jerusalem, Israel
$252,000
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 M. Stone, M.D., Ph.D.
University of Iowa, Iowa City, IA
Translational Research
Acceleration Program
$310,576
Dr. Stone’s lab is working to improve its ability to provide high-quality, meaningful genetic testing results to patients affected with all forms of retinitis pigmentosa. They are also conducting natural history studies of patients to better understand the diseases.
Paul Wong, Ph.D.
Emory University, Atlanta, GA
$98,844
Dr. Wong is researching the causes of North Carolina macular dystrophy, an inherited, juvenile form of of macular degeneration. His primary focus is to find the gene(s) linked to the condition.
NOVEL MEDICAL THERAPY
Craig Beeson, PhD
MitoChem Therapeutics
Charleston, SC
$820,667
Paul Bernstein, M.D., Ph.D.
University of Utah,
Salt Lake City, UT
$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.
Matthew M. LaVail, Ph.D.
Beckman Vision Center,
UCSF School of Medicine,
San Francisco, CA
Translational Research Acceleration Program
$168,701
Dr. LaVail is conducting lab research to determine the effectiveness of individual and combined neuroprotective agents in slowing retinal degeneration.
Thierry Levéillard, Ph.D.
Institute de la Vision-INSERM,
Paris, France
Translational Research Acceleration Program
$271,432
Dr. Levéillard is identifying plant extracts that mimic the cone-preserving properties of rod-derived cone viability factor for the treatment of retinal degenerations such as retinitis pigmentosa.
Muna Naash, Ph.D.
University of Oklahoma Health Sciences Center,
Oklahoma City, OK
$100,000
Dr. Naash is developing a nanoparticle-based gene therapy for Usher syndrome type 2A. Nanoparticles have the advantage of being able to deliver large therapeutic genes.
Bärbel Rohrer, Ph.D.
Medical University of
South Carolina, Charleston, SC
Translational Research Acceleration Program
$200,000
Dr. Rohrer is screening a 50,000-compound library in search of agents that boost mitochondrial function (the power supply in cells) and preserve vision in people with retinitis pigmentosa and age-related macular degeneration. Promising compounds are then being evaluated in animal models.
Hongjun Song, Ph.D.,
Donald J. Zack, M.D., Ph.D.
Wilmer Eye Institute,
The Johns Hopkins University
School of Medicine, Baltimore, MD
Translational Research Acceleration Program
$329,163
Drs. Zack and Song are screening libraries of compounds to find those that can protect and increase the survival of photoreceptor cells. They are also identifying compounds that can encourage stem cells to develop into photoreceptor cells.
Uwe Wolfrum, Ph.D.
Johannes Gutenberg University
of Mainz, Mainz, Germany
$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, M.D., Ph.D.
Hadassah-Hebrew University
Medical Center,
Jerusalem, Israel
$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 M. Gamm, M.D., Ph.D.,
Derek Hei, Ph.D.,
Ray Lund, Ph.D.,
Eric Pierce, M.D., Ph.D.,
James Thomson, Ph.D.
Waisman Center, University of
Wisconsin, Madison, WI
Translational Research Acceleration Program
$562,756
Dr. Gamm and his collaborators are developing induced pluripotent stem cell therapies in which stem cells used for treatment are obtained by genetically tweaking a skin or blood sample from the patient. Their work is in preparation for a future clinical trial.
Jan Nolta, Ph.D.
University of California, Davis
Sacramento, CA
$66,275
Dr. Nolta is researching how therapeutic stem cells migrate to the places in the retina where they are needed to repair damage from conditions such as age-related macular degeneration and retinitis pigmentosa.
Marco Zarbin, M.D., Ph.D.
University of Medicine and Dentistry of New Jersey
Newark, 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.
Llura Ligget Gund Award - Edwin Stone M.D., Ph.D.
University of Iowa
Dr. Stone received this award for his career achievements in genetic research, clinical care, and treatment development. His genetics lab (Carver Lab) is recognized as a world leader in ge |
