Publications related to Delivery of CRISPR/Cas9 using AAV-PHP.B in the inner ear leads to allele-specific inactivation of the mutated Tmc1 allele and protects auditory function in Beethoven mice

Related publications (33)

Unraveling behavior and cortical signals to guide the development of soft neuroprostheses for auditory restoration and spreading depolarization

Neuroprostheses have been used clinically for decades, to help restore or preserve brain functions, when pharmaceutical treatments are inefficient. Although great progress in the field has been made over the years to interface with the nervous system, surf ...

EPFL2024

Hearing structure in music: An empirical inquiry into listening as representation and processing

Gabriele Cecchetti

As a universal expression of human creativity, music is capable of conveying great subtlety and complexity. Crucially, this complexity is not encoded in the score or in the sounds, but is rather construed in the mind of the listener in the form of nuanced ...

EPFL2024

High-content phenotypic analysis of a C. elegans recombinant inbred population identifies genetic and molecular regulators of lifespan

Johan Auwerx, Laurent Mouchiroud, Maroun Bou Sleiman, Xiaoxu Li, Yang Li, Elena Katsyuba, Jean-David Horacio Morel, Wen Gao, Amélia Lalou, Jonathan Allen Sulc, Gaby El Alam

Lifespan is influenced by complex interactions between genetic and environmental factors. Studying those factors in model organisms of a single genetic background limits their translational value for humans. Here, we mapped lifespan determinants in 85 C. e ...

2024

Clinically compliant cryopreservation of differentiated retinal pigment epithelial cells

Cheng Zhao, Gioele La Manno, Alex Russell Lederer

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

Long-Term Hearing Outcome After Radiosurgery for Vestibular Schwannoma: A Systematic Review and Meta-Analysis

Constantin Tuleasca, Adrien Jean Régis Maurice Hilaire

BACKGROUND: Stereotactic radiosurgery (SRS) is one of the main treatment options in the management of small to medium size vestibular schwannomas (VSs), because of high tumor control rate and low cranial nerves morbidity. Series reporting long-term hearing ...

LIPPINCOTT WILLIAMS & WILKINS2023

Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy

Bernard Schneider

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by motor neuron loss and skeletal muscle atrophy. SMA is caused by the loss of the SMN1 gene and low SMN protein levels. Current SMA therapies work by increasing SM ...

Oxford University Press2023

Get More for Less in Decentralized Learning Systems

Anne-Marie Kermarrec, Rafael Pereira Pires, Rishi Sharma, Akash Balasaheb Dhasade, Milos Vujasinovic

Decentralized learning (DL) systems have been gaining popularity because they avoid raw data sharing by communicating only model parameters, hence preserving data confidentiality. However, the large size of deep neural networks poses a significant challeng ...

IEEE2023

Plasticity of sensory representations in the posterior insular cortex during fear learning

Denys Osypenko

Aversively-motivated associative learning allows animals to avoid harm and thus ensures survival. Aversive learning can be studied by the fear learning paradigm, in which an innocuous sensory stimulus like a tone (conditioned stimulus, CS), acquires a nega ...

EPFL2023

Development of multiplexed single-molecule imaging techniques to study chromatin invasion dynamics of chromatin effector proteins

Kristina Makasheva

DNA-binding proteins physically interact with the DNA and directly affect genomic functions. The eukaryotic genome is compacted into chromatin, limiting the DNA access to nuclear factors. In this Ph.D. thesis, I explored the dynamic mechanisms, that allow ...

EPFL2023

Allosteric control of type I-A CRISPR-Cas3 complexes and establishment as effective nucleic acid detection and human genome editing tools

Henning Paul-Julius Stahlberg, Dongchun Ni

Type I CRISPR-Cas systems typically rely on a two-step process to degrade DNA. First, an RNA-guided complex named Cascade identifies the complementary DNA target. The helicase-nuclease fusion enzyme Cas3 is then recruited in trans for processive DNA degrad ...

CELL PRESS2022

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

Nicolas Jean Philippe Guex

Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one unrelate ...

Oxford University Press2021

Repeat stereotactic radiosurgery for progressive vestibular schwannomas after previous radiosurgery: a systematic review and meta-analysis

Constantin Tuleasca, Adrien Jean Régis Maurice Hilaire

Vestibular schwannomas (VS) are slow-growing intracranial extraaxial benign tumors, developing from the vestibular part of the eight cranial nerves. Stereotactic radiosurgery (SRS) has now a long-term scientific track record as first intention treatment fo ...

SPRINGER2021

Lower glutamate and GABA levels in auditory cortex of tinnitus patients: a 2D-JPRESS MR spectroscopy study

Thorsten Kleinjung, Patrick Karl Alois Neff

We performed magnetic resonance spectroscopy (MRS) on healthy individuals with tinnitus and no hearing loss (n = 16) vs. a matched control group (n = 17) to further elucidate the role of excitatory and inhibitory neurotransmitters in tinnitus. Two-dimensio ...

Nature Research2022

Design and modelling of a compliant constant-force surgical tool for objective assessment of ossicular chain mobility

Simon Nessim Henein, Charles Baur, Loïc Benoît Tissot-Daguette

Surgeons generally assess the mobility of the ossicle chain by manual palpation using rigid elongated hooks inserted through the ear canal. As the applied forces are in the range of a few grams equivalent force, the measurement remains subjective and its r ...

IEEE2021

Auditory externalization of a remote microphone signal

Vincent Pierre Olivier Grimaldi

A remote microphone (RM) system can be used in combination with wearable binaural communication devices, such as hearing aids (HAs), to improve speech intelligibility. Typically, a speaker is equipped with a body-worn microphone which enables to pick up th ...

EPFL2022

A ribonucleoprotein transfection strategy for CRISPR/Cas9-mediated gene editing and single cell cloning in rainbow trout cells

Kristin Schirmer

Background The advent of the Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 technology marked the beginning of a new era in the field of molecular biology, allowing the efficient and precise creation of targeted mutations in the ge ...

2021

Conformable neural interfaces : from engineering stretchability at the micro-scale to translational applications

Florent-Valéry Coen

Recently, flexible and soft bioelectronic interfaces have been proposed as a solution to improve existing neural interfaces that currently present mechanical mismatch with the soft tissue. These are devices fabricated with thin polymeric or elastomeric bac ...

EPFL2022

Optogenetic control of Neisseria meningitidis Cas9 genome editing using an engineered, light-switchable anti-CRISPR protein

Bruno Emanuel Ferreira De Sousa Correia, Zander Harteveld

Optogenetic control of CRISPR-Cas9 systems has significantly improved our ability to perform genome perturbations in living cells with high precision in time and space. As new Cas orthologues with advantageous properties are rapidly being discovered and en ...

2021

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

Fabrication and validation of an intraneural interface tailored for optic nerve stimulation

Eleonora Borda

Technological progress in materials science and microengineering along with new discoveries in neuroscience have contributed to restore lost or impaired sensory functions by closely interfacing with the nervous system. Electronic devices have begun to be i ...

EPFL2022