The Foundation Fighting Blindness has modified its Research Center program to better align with our goals to promote excellence in clinical care for individuals affected with retinal degenerative disorders (RDDs) and to advance the field towards treatments and therapies for RDDs. Retinal diseases of interest includes AMD-like diseases that may be graded by international grading systems as geographic atrophy, but may actually represent inherited maculopathies caused by different molecular mechanisms to AMD.
Goal of the PPA
The PPA is designed to support collaborative, multi-disciplinary, research studies that engage investigators with different expertise and resources. The PPA is intended to enable studies that are too large or complex for a single investigator to undertake in a reasonable amount of time and to address gaps in our current knowledge or therapeutic options. The PPA must be unified around a single, well-articulated hypothesis and a clearly defined deliverable(s), relevant to the mission of the Foundation. A PPA must contain a minimum of three research projects, each headed by a principal investigator. The principal investigators may be in the same or different institutions. The teams supported by a PPA must be tightly integrated and sharply focused, freely share data and creative ideas, and each be essential to the common goal. A PPA application will primarily be reviewed as a whole, integrated team program, not as individual projects.
The PPA is not intended to support clinical research unless it is tightly integrated with the other projects, as described below, and the PPA is not intended to support research cores.
The PPA must address a knowledge gap or therapeutic goal identified by the Foundation or an equally significant gap or goal approved by the Foundation prior to submission of the PPA proposal. When addressing a therapeutic, the teams should consider the practicalities of the intended clinical use of the deliverable.
RFAs will be by invitation only. For information, email firstname.lastname@example.org
Budgets will be considered up to $500,000 per year for up to five years. Funding will be paid to the PPA Project Leader, who will then distribute funding in compliance with the agreed budget.
Frans Cremers, PhD
Professor, Department of Human Genetics, Radboud University Nijmegen Medical Centre
“Splice modulation to treat inherited retinal diseases”
Dr. Cremers is leading a team of scientists to investigatie defects in messenger RNA (mRNA) that can lead to inherited retinal disease, and potential therapeutic approaches, such as antisense oligonucleotides, to correct mRNA defects.
Jacque Duncan, MD
Professor of Clinical Ophthalmology, Beckman Vision Center, University of California, San Francisco
“Characterization of existing and newly developed models of Usher Syndrome”
Drs. Duncan and Carroll are leading a multi-discipline team of scientist to develop and investigate models of Usher syndrome to identify those that can be used to more effectively evaluate therapies for humans with the condition. Retinal degeneration is subtle in most current Usher syndrome models
Ronald Roepman, PhD
Radboud University Nijmegen Medical Center
“Targeting proteostasis and protein quality control in photoreceptors towards therapeutic intervention”
Dr. Roepman and his colleagues have teamed together to study the proteostasis network in photoreceptors to better understand the activities and interactions of proteins, and how imbalances in proteostasis that lead to photoreceptor degeneration.
Berman-Gund Laboratory for the Study of Retinal Degenerations
Eric A. Pierce, MD PhD
William F. Chatlos Professor, Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School
“Clinical Research Studies of Retinitis Pigmentosa & Allied Diseases”
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.
“Molecular Genetic Studies for Retinitis Pigmentosa & Allied Diseases”
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.
Luk Vandenberghe, PhD
Massachusetts Eye and Ear Infirmary
“Gene Therapies for Animal Models of Retinitis Pigmentosa & Allied Diseases”
Module III: This module is developing gene therapies based on adeno-associated viruses for retinitis pigmentosa caused by Usher syndrome with mutations in USHIC and USH2A mutations.
Children’s Hospital of Pennsylvania for the Study of Pediatric Onset Inherited Retinal Degenerations
Jean Bennett, MD PhD
University of Pennsylvania
“Development of gene therapies for early onset, severe retinal degeneration”
Module II: Dr. Bennett is performing preclinical studies of gene and small molecule therapies for people with Leber congenital amaurosis (CEP290 and lebercillin mutations) and Stargardt disease (ABCA4 mutations).
Albert Maguire, MD
University of Pennsylvania
“Clinical Characterization and Treatment of Pediatric Retinal Degenerations”
Dr. Maguire and his colleagues are investigating the correlation between the genetic and clinical profiles of children with retinal disease. He will also be establishing the infrastructure for clinical trials of gene therapies based on adeno-associated viruses for people with Leber congenital amaurosis (CEP290 and lebercillin mutations) and/or Stargardt disease (ABCA4 mutations).
Jessica I. W. Morgan, PhD
University of Pennsylvania
“Non-invasive, High Resolution imaging of Pediatric Retinal Degenerations”
Dr. Morgan is investigating the degeneration of the retina and visual cortex in patients with inherited retinal degenerative diseases using high-resolution imaging techniques such as adaptive optics scanning laser ophthalmoscopy (AOSLO) and functional magnetic resonance imaging (fMRI).
Jason Mills, PhD
University of Pennsylvania
“Research core for the development of induced pluripotent stem cell (iPSC) models for pediatric onset inherited retinal degenerations”
Dr. Mills is using induced pluripotent stem cells to create patient-specific disease models for Leber congenital amaurosis (lebercillin and CEP290 mutations). The models will be used to test potential therapies.
Penn Large Animal Model Translational and Research Center
Gustavo Aguirre, VMD PhD
Professor, Medical Genetics and Ophthalmology, School of Veterinary Medicine, University of Pennsylvania
“Identification, Development and Molecular/Cellular Studies of New and Established Canine RD Models”
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.
William A. Beltran, DVM PhD
Associate Professor, Ophthalmology, School of Veterinary Medicine, University of Pennsylvania
“Medical Therapy Service”
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.
Tatyana Appelbaum, PhD
University of Pennsylvania
“Gene Expression/Molecular Pathways in Photoreceptor Cell Death/Survival”
Dr. Applebaum is performing research to understand the genetic and molecular pathways that lead to retinal cell death and survival. His work applies to a variety of retinal degenerative diseases including RP and age-related macular degeneration.
Foundation-supported Meetings and Workshops
XVIIIth International Retinal Degeneration Symposium
“RD2018 September 03-08, 2018 in Killarney, Ireland”
The XVIIIth International Retinal Degeneration Symposium will focus on age-related macular degeneration and inherited retinal degenerations with several keynote lectures, three full days of oral presentations, three evening poster sessions. The Foundation is supporting travel, meeting, lodging and meal expenses for five or more young postdoctoral trainees/junior faculty members the program.
CLINICAL RESEARCH INSTITUTE PROJECTS
Foundation Fighting Blindness-Clinical Research Institute, Clinical Consortium
“RUSH2A Natural History Study”
The Foundation's Clinical Consortium has launched a natural history study to gain a better understanding of how USH2A mutations affect the severity and progression of vision loss. RUSH2A investigators at more than 20 international clinical sites, will use a variety of technologies to monitor changes in vision and retinal structure to document and analyze disease progression.
My Retina Tracker
The Foundation has launched an online national registry for people with retinal degenerations. Known as My Retina Tracker, the confidential secure registry will enable patients and their physicians to collect and update information about the patients' disease, genetic profile, and/or clinical care.
Nacuity Pharmaceuticals, Inc.
“Development of N-acetyl cysteine amide (NACA) for use in treating patients with Retinitis Pigmentosa”
Nacuity is a Texas-based biotech developing N-acetycysteine amide for the treatment of retinitis pigmentosa
ProgStar Natural History Clinical Study
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. The Foundation has included an ancillary study to investigate the rod photoreceptor's sensitivity during the natural course of the disease through the ProgSTAR Study
“RdCVF Preclinical Studies”
Under the leadership of Dr. Sahel, SparingVision is developing a gene therapy that delivers rod-derived cone viability factor — a protein showing promise in preserving cones in models of retinal degeneration. His work includes studies in preparation for a clinical trial.
“Clinical Trial for LCA10 Treatment”
ProQR, a biotech company in the Netherlands, has reported vision improvements for patients in a Phase 1/2 clinical trial for QR-110, a therapy for people with Leber congenital amaurosis 10 (LCA10), which is caused by the p.Cys998X mutation in the CEP290 gene. The mutation is estimated to affect about 2,000 people in the Western world.