Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases

AbstractRetinal degeneration diseases, such as age-related macular degeneration and retinitis pigmentosa, affect millions of people worldwide and are major causes of irreversible blindness. Effective treatments for retinal degeneration, including drug therapy, gene augmentation or transplantation approaches, have been widely investigated. Nevertheless, more research should be dedicated to therapeutic methods to improve future clinical treatments. Recently, with the rapid development of genome-editing technology, gene therapy has become a potentially effective treatment for retinal degeneration diseases. A clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) system has been developed as a powerful genome-editing tool in ophthalmic studies. The CRISPR/Cas9 system has been widely applied in basic research to develop animal models and gene therapies in vivo. With the ability to self-renew and the potential to differentiate into different types of cells, induced pluripotent stem cells (iPSCs) have already been used as a promising tool for understanding disease pathophysiology and evaluating the effect of drug and gene therapeutics. iPSCs are also a cell source for autologous transplantation. In this review, we compared genome-editing strategies and highlighted the advantages and concerns of the CRISPR/Cas9 system. Moreover, the latest progress and applications of the CRISPR/Cas9 system and its combination with iPSCs for the treatmen...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research

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Authors: Tomita H, Sugano E Abstract The visual system consists of various types of neurons and a single-nucleotide mutation can sometimes lead to blindness. The phototransduction pathway in the retina starts from the first-order neurons, the photoreceptor cells, and transmits the signals to second-order neurons. Finally, the output signal from third-order neurons, the ganglion cells, is carried to the brain. The photoreceptor cells are the only neurons in the retina that can respond to a light signal; they are hyperpolarised when they receive light, and the ganglion cells carry the signals to the brain following t...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Abstract Epigenetics has an important role in gene regulation and other cellular processes. DNA methylation, as one of the main mechanisms of epigenetics, is a type of post-replication modifications. Aberrant DNA methylation can alter gene expression patterns; so, plays a considerable role in the pathogenesis of many diseases. DNA methylation alterations in promoter of specific genes can be used for diagnosis and proprietary targets for treatment that known as "biomarker". Early diagnosis and prevention may be possible by these biomarkers. According to the recent studies, DNA methylation abnormalities ha...
Source: Current Molecular Medicine - Category: Molecular Biology Authors: Tags: Curr Mol Med Source Type: research
RARITAN, NJ, December 2, 2020 – Janssen Pharmaceuticals, Inc., one of the Janssen Pharmaceutical Companies of Johnson &Johnson, today announced the acquisition of rights to Hemera Biosciences, LLC’s investigational gene therapy HMR59, administered as a one-time, outpatient, intravitreal injection to help preserve vision in patients with geographic atrophy, a late-stage and severe form of age-related macular degeneration (AMD). Financial terms of the transaction with Hemera Biosciences, a privately-owned biotechnology company, are not being disclosed. Patients with AMD often have low levels of CD59, a protei...
Source: Johnson and Johnson - Category: Pharmaceuticals Tags: Innovation Source Type: news
RARITAN, N.J., November 13, 2020 – The Janssen Pharmaceutical Companies of Johnson &Johnson announced today new 12-month data from the ongoing Phase 1/2 trial (NCT03252847) of its investigational gene therapy for inherited retinal disease X-linked retinitis pigmentosa (XLRP). The data showed that low and intermediate doses were well-tolerated and continued to demonstrate statistically significant sustained or increased vision improvement across multiple metrics (mean sensitivity, volumetric and pointwise) and modalities (full-field static perimetry and microperimetry). Data on the novel adeno-associated virus ret...
Source: Johnson and Johnson - Category: Pharmaceuticals Tags: Innovation Source Type: news
Click to Access Audio Press ReleaseRARITAN, NJ, July 17, 2020 – The Janssen Pharmaceutical Companies of Johnson &Johnson announced today six-month data from the ongoing Phase 1/2 trial (NCT03252847) of its investigational gene therapy for the treatment of inherited retinal disease X-linked retinitis pigmentosa (XLRP). The interim data showed that low and intermediate doses of the investigational adeno-associated virus retinitis pigmentosa GTPase regulator (AAV-RPGR) were generally well-tolerated and indicated significant improvement in vision. Initial data on the novel AAV-RPGR asset, jointly developed with Meira...
Source: Johnson and Johnson - Category: Pharmaceuticals Tags: Innovation Source Type: news
Retinal prostheses promise the restoration of vision to people with age-related macular degeneration, retinitis pigmentosa, and other conditions that lead to the loss of functional photoreceptors. A number of technologies are already in existence tha...
Source: Medgadget - Category: Medical Devices Authors: Tags: Materials Ophthalmology Source Type: blogs
In this study, we used markers to monitor the formation of SGs in Caenorhabditis elegans. We found that, in addition to acute heat stress, SG formation could also be triggered by dietary changes, such as starvation and dietary restriction (DR). We found that HSF-1 is required for the SG formation in response to acute heat shock and starvation but not DR, whereas the AMPK-eEF2K signaling is required for starvation and DR-induced SG formation but not heat shock. Moreover, our data suggest that this AMPK-eEF2K pathway-mediated SG formation is required for lifespan extension by DR, but dispensable for the longevity by reduced ...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Researchers here propose an interesting approach to restoring vision in cases of age-related macular degeneration. They are using a gene therapy targeted at photoreceptor cells to provide these cells with the ability to be stimulated by near-infrared light. In tests in mice, this appears to function as intended, though it is always challenging to assess the quality of vision (as opposed to its presence or absence) in such experiments. The main cause of blindness in industrialized countries is the degeneration of photoreceptors, including age-related macular degeneration and retinitis pigmentosa. During the progres...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
ABSTRACT Degenerative retinal diseases such as retinitis pigmentosa, Stargardt ’ s macular dystrophy, and age-related macular degeneration are characterized by irreversible loss of vision due to direct or indirect photoreceptor damage. No effective treatments exist, but stem cell studies have shown promising results. Our aim with this review was to describe the types of stem cells that are under study, their effects, and the main clinical trials involving them.RESUMO As doen ças degenerativas da retina, como retinose pigmentar, distrofia macular de Stargardt e degeneração macular relaciona &agrav...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
RARITAN, NJ, March 2, 2020 – The Janssen Pharmaceutical Companies of Johnson &Johnson announced today that the European Medicines Agency (EMA) has granted both PRIME (PRIority MEdicines) and Advanced Therapy Medicinal Product (ATMP) designations to the company’s adeno-associated virus (AAV)-RPGR gene therapy product for the treatment of inherited retinal disease X-linked retinitis pigmentosa (XLRP). PRIME is awarded to increase interactions, optimize development plans and accelerate innovative treatments where there is unmet medical need. Similarly, ATMP status is granted to medicines that are based on gene...
Source: Johnson and Johnson - Category: Pharmaceuticals Tags: Innovation Source Type: news
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