A5056637283- Planarian Biology and Electrostimulation
- bioluminescence and chemiluminescence research
- Retinal Development and Disorders
- Mitochondrial Function and Pathology
- CRISPR and Genetic Engineering
- Chromosomal and Genetic Variations
- Plant Virus Research Studies
- Muscle Physiology and Disorders
- Plant and Biological Electrophysiology Studies
- Developmental Biology and Gene Regulation
- Photoreceptor and optogenetics research
- Retinal Diseases and Treatments
- Laser Applications in Dentistry and Medicine
- Plant Molecular Biology Research
Max Delbrück Center
2019-2023
Institut de la Vision
2020-2021
Inserm
2020-2021
Sorbonne Université
2020-2021
Centre National de la Recherche Scientifique
2019-2021
Institut Pasteur
2019-2021
Organoids derived from stem cells have become an increasingly important tool for studying human development and modeling disease. However, methods are still needed to control study spatiotemporal patterns of gene expression in organoids. Here we combined optogenetics perturbation technologies activate or knock-down RNA target genes programmable patterns. To illustrate the usefulness our approach, locally activated Sonic Hedgehog (SHH) signaling organoid model neurodevelopment. Spatial...
Abstract Organoids derived from stem cells become increasingly important to study human development and model disease. However, methods are needed control spatio-temporal patterns of gene expression in organoids. To this aim, we combined optogenetics perturbation technologies activate or knock-down RNA target genes, at single-cell resolution programmable patterns. illustrate the usefulness our approach, locally activated Sonic Hedgehog ( SHH ) signaling an organoid for neurodevelopment....
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60% 70% of cases, novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole-exome sequencing applied a case autosomal recessive from consanguineous union identified homozygous variant WDR34. WDR34 previously severe...
The purpose of this work was to identify the gene defect underlying a relatively mild rod-cone dystrophy (RCD), lacking disease-causing variants in known genes implicated inherited retinal disorders (IRD), and provide transcriptomic immunolocalization data highlight best candidate. DNA female patient originating from consanguineous family revealed no large duplication or deletion, but several homozygous regions. In one these, frameshift variant, c.244_246delins17 p.(Trp82Valfs*4); predicted...
Microsatellite expansions are the cause of >20 neurological or developmental human disorders. Shortening expanded repeats using specific DNA endonucleases may be envisioned as a gene editing approach. Here, we measured efficacy several CRISPR-Cas nucleases to induce recombination within disease-related microsatellites, in Saccharomyces cerevisiae. Broad variations nuclease performances were detected on all repeat tracts. Wild-type Streptococcus pyogenes Cas9 (SpCas9) was more efficient than...
Abstract Microsatellite expansions are the cause of more than 20 neurological or developmental human disorders. Shortening expanded repeats using specific DNA endonucleases may be envisioned as a gene editing approach. Here, new assay was developed to test several CRISPR-Cas nucleases on microsatellites involved in diseases, by measuring at same time double-strand break rates, end resection and homologous recombination efficacy. Broad variations nuclease performances were detected all repeat...