Publications related to Gene therapy of the human retina

Clinically compliant cryopreservation of differentiated retinal pigment epithelial cells

Gioele La Manno, Alex Russell Lederer, Cheng Zhao

Background aims: Age-related macular degeneration (AMD) is the most common cause of blindness in elderly patients within developed countries, affecting more than 190 million worldwide. In AMD, the retinal pigment epithelial (RPE) cell layer progressively d ...

Elsevier Sci Ltd2024

Degradable and Printed Microstrip Line for Chipless Temperature and Humidity Sensing

Danick Briand, James Alec Pierce Bourely, Jaemin Kim, Xavier Aeby, Oleksandr Vorobyov

Research on chipless and passive architectures for environmental sensing is generating high interest because they do not require any semiconductor components or batteries to operate, thus resulting in an eco-friendlier footprint. This study demonstrates a ...

2024

Influence of macular pigment on the sensitivity to discomfort glare from daylight

Marilyne Andersen, Jan Wienold, Sneha Jain

Understanding the factors that influence the human perception of glare is necessary to properly address glare risks in buildings and achieve comfortable visual environments, especially in the workplace. Yet large inter-individual variabilities in glare per ...

Nature Research2023

Engineering synthetic adhesins for biophysical investigation and rewiring of host-microbe interactions

Xavier Jean-Yves Pierrat

Host attachment is often a critical step in the onset of pathogenesis. To attach to host cells, bacteria have evolved a range of adhesins that bind to specific receptors. Some of these adhesins have been thoroughly characterized using biochemical technique ...

EPFL2022

Incomplete Recovery of Zebrafish Retina Following Cryoinjury

Dylan Lawless

Zebrafish show an extraordinary potential for regeneration in several organs from fins to central nervous system. Most impressively, the outcome of an injury results in a near perfect regeneration and a full functional recovery. Indeed, among the various i ...

MDPI2022

Core-shell Structured Chitosan-polyethylenimine Nanoparticles for Gene Delivery: Improved Stability, Cellular Uptake, and Transfection Efficiency

Sandrine Gerber, Laura Camille Louise Nicolle, Perrine Agnes Edith Robin

Gene therapy emerged as a promising treatment option for acquired and inherited diseases. The delivery of nucleic acids relies on vectors that condense and encapsulate their cargo. Especially non-viral gene delivery systems are of increasing interest. Howe ...

2022

Development of Covalent Chitosan-Polyethylenimine Derivatives as Gene Delivery Vehicle: Synthesis, Characterization, and Evaluation

Sandrine Gerber, Céline Marie Anne Journot, Laura Camille Louise Nicolle

There is an increasing interest in cationic polymers as important constituents of non-viral gene delivery vectors. In the present study, we developed a versatile synthetic route for the production of covalent polymeric conjugates consisting of water-solubl ...

2021

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

Imen Habibi

Purpose: To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with a quiescent choroidal neovascularization (CNV) in one eye and an active CNV in the fellow eye, complicating retinitis pig ...

2021

Photovoltaic retinal prosthesis restores high-resolution responses to single-pixel stimulation in blind retinas

Diego Ghezzi, Naïg Aurelia Ludmilla Chenais, Marta Jole Ildelfonsa Airaghi Leccardi

Retinal prostheses hold the promise of restoring vision in totally blind people. However, a decade of clinical trials highlighted quantitative limitations hampering the possibility of reaching this goal. A key challenge in retinal stimulation is to indepen ...

2021

Photovoltaic stimulation of retinal microcircuit for vision restoration

Naïg Aurelia Ludmilla Chenais

Sight restoration through retinal prostheses was still a mere dream a century ago. Current challenges are even greater: providing a quantitatively and qualitatively useful artificial vision to late blind patients. Existing approaches all face engineering a ...

EPFL2021

Gene replacement therapy provides benefit in an adult mouse model of Leigh syndrome

Johan Auwerx

Mutations in nuclear-encoded mitochondrial genes are responsible for a broad spectrum of disorders among which Leigh syndrome is the most common in infancy. No effective therapies are available for this severe disease mainly because of the limited capabili ...

2020

In vivo evaluation of gene editing and prosthetic strategies to restore vision in small and large animal models of retinal degeneration

Paola Vagni

Inherited retinal diseases (IRDs) form a group of diverse disorders that lead to the degeneration of the light-sensing cells of the retina: the photoreceptors. IRDs are among the leading causes of blindness in working-age adults living in industrialized co ...

EPFL2020

Optical phase contrast imaging of human retinal cells by changing the tissue refractive index

Christophe Moser, Timothé Laforest, Laura Emmanuelle Kowalczuk, Mathieu Künzi

Purpose : Based on oblique partially coherent illumination of transparent samples, we developed a simple custom Optical Phase Imaging (OPI) microscope providing a label-free, semi-quantitative phase contrast imaging. The aim of this study was to explore th ...

ASSOC RESEARCH VISION OPHTHALMOLOGY INC2020

Development of a new visual prosthesis for preclinical studies on artificial vision

Marta Jole Ildelfonsa Airaghi Leccardi

The technological evolution in materials science and microengineering favored the production of advanced visual prostheses useful for fighting blindness and to improve patients quality of life. Visual prostheses aim at replacing lost visual functions by ar ...

EPFL2020

Fully automated detection, segmentation, and analysis of in vivo RPE single cells

Christophe Moser, Timothé Laforest, Laura Emmanuelle Kowalczuk, Florentino Luciano Caetano Dos Santos

Objective To develop a fully automated method of retinal pigmented epithelium (RPE) cells detection, segmentation and analysis based on in vivo cellular resolution images obtained with the transscleral optical phase imaging method (TOPI). Methods Fourteen ...

NATURE PUBLISHING GROUP2021

Virtual reality simulation of epiretinal stimulation highlights the relevance of the visual angle in prosthetic vision

Diego Ghezzi, Enrico Migliorini, Jacob Thomas Thorn

Objective. Retinal prostheses hold the potential to restore artificial vision in blind patients suffering from outer retinal dystrophies. The optimal number, density and coverage of the electrodes that a retinal prosthesis should have to provide adequate a ...

2020

Efficient viral transduction in mouse inner ear hair cells with utricle injection and AAV9-PHP.B

Bernard Schneider, Paola Andrea Solanes Vega

Viral delivery of exogenous coding sequences into the inner ear has the potential for therapeutic benefit for patients suffering genetic or acquired hearing loss. To devise improved strategies for viral delivery, we investigated two injection techniques, r ...

2020

Transscleral optical phase imaging of the human retina

Christophe Moser, Timothé Laforest, Laura Emmanuelle Kowalczuk, Dino Carpentras

In vivo observation of the human retina at the cellular level is crucial to detect the first signs of retinal diseases and properly treat them. Despite the phenomenal advances in adaptive optics systems, clinical imaging of many retinal cells is still elus ...

Nature Publishing Group2020

Selection of Water-Soluble Chitosan by Microwave-Assisted Degradation and pH-Controlled Precipitation

Sandrine Gerber, Yann Lavanchy, Céline Marie Anne Journot, Laura Camille Louise Nicolle

In the field of gene therapy, chitosan (CS) gained interest for its promise as a non-viral DNA vector. However, commercial sources of CS lack precise characterization and do not generally reach sufficient solubility in aqueous media for in vitro and in viv ...

2020

Single particle cryo‐EM of the complex between interphotoreceptor retinoid‐binding protein and a monoclonal antibody

Henning Paul-Julius Stahlberg, Andreas Engel

Interphotoreceptor retinoid‐binding protein (IRBP) is a highly expressed protein secreted by rod and cone photoreceptors that has major roles in photoreceptor homeostasis as well as retinoid and polyunsaturated fatty acid transport between the neural retin ...

2020