Disease Focus: Vision Loss
A Phase I Open Label Study to Evaluate the Safety and Tolerability of ISP-001 in Patients with Mucopolysaccharidosis Type 1
Modeling Retinitis Pigmentosa using patient-derived human iPSC organoids
Research Objective The objective of this proposal is to develop a human retinal organoid model of adRP to gain insights in pathogenesis and assess clinically relevant approaches to restore RHO protein function. Impact Upon successful completion of this study, we will have established a disease-in-a-dish model and a novel therapeutic approach towards management of the […]
Developing gene therapy for dominant optic atrophy using human pluripotent stem cell-derived retinal organoid disease models
Research Objective We will develop a gene therapy for a major inherited optic nerve disease and test the effectiveness of the treatment by analyzing healthy and patient stem cell-derived mini human retinas. Impact The research will use stem cell-based methods to overcome the shortage of human retinal cells and establish disease models, thus allow testing […]
Small Molecule Proteostasis Regulators to Treat Photoreceptor Diseases
Research Objective We will discover small molecule compounds that correct disease in eyecups (retinal organoids) differentiated from patient iPSCs with photoreceptor diseases. Impact Our small molecule agents will provide new treatments for achromatopsia and cone-rod dystrophy. These are rare hereditary blinding diseases with no cures Major Proposed Activities Transcriptomic and proteomic profiling of control and […]
An IPSC cell based model of macular degeneration for drug discovery.
Research Objective Towards a cure for age related blindness, we propose to create a human stem cell based model to screen for drugs that are protective against Age related macular degeneration (AMD). Impact With up to 11 million people in the United States affected by AMD, effective treatments against macular degeneration could address vision loss […]
A Novel Tissue Engineering Technique to Repair Degenerated Retina
Research Objective Transplantation of human embryonic stem cell (hESC) derived retina organoids (hESC-RO) together with hESC derived retinal pigment epithelium (hESC-RPE) to treat advanced retinal degeneration diseases Impact Based on the ‘proof of concept’ experiments in animal models, this novel approach can be translated into a therapeutic product for the treatment of advanced human retinal […]
Embryonic Stem Cells for Corneal Endothelial Degeneration
Research Objective The proposed studies will determine the optimal approaches to differentiate and transplant stem cell-derived corneal endothelial cells. Impact These data will provide foundational proof-of-concept data that will allow the rapid advance of a cell therapy towards clinical application. Major Proposed Activities Determine optimal conditions to generate human corneal endothelial cells from human stem […]
Microenvironment based optimization of retinal induction using CRISPR-CAS9 reporter pluripotent stem cells as an expandable source of retinal progenitors and photoreceptors.
Research Objective To increase the efficiency of generating pure retinal progenitor cultures for use in transplantation and to probe general aspects of retinal development. Impact Our methods could increase the efficiency of obtaining transplantable patient specific induced pluripotent stem cell derived retinal cells for the treatment of blindness through cell replacement. Major Proposed Activities Make […]
AAV Gene Therapy for Treating Congenital Hereditary Endothelial Dystrophy associated with Biallelic SLC4A11 Mutations
Translational Candidate Therapeutic candidate rAAV8-EF1α-hSLC4A11 is a recombinant AAV vector with single-stranded cDNA encoding the wild-type human SLC4A11 protein. Area of Impact The candidate is for treatment of congenital hereditary endothelial dystrophy, an orphan disease associated with congenital corneal opacification. Mechanism of Action Therapeutic candidate rAAV8-EF1α-hSLC4A11 introduces normal copies of human SLC4A11 gene into the […]
Extracellular Vesicle-Based Therapy for Corneal Scars
Translational Candidate Extracellular vesicles derived from stem cells for the treatment of corneal scars. Area of Impact The candidate aims to restoring vision by reducing the need for corneal transplant and the associated blinding complications. Mechanism of Action The therapeutic candidate is an extracellular vesicle (EV)-based therapy that could regenerate normal cornea tissue and reduce […]