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Therapy: Gene Therapy
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Total 254 results found since Jan 2013.
Unleashing the potential of CRISPR multiplexing: Harnessing Cas12 and Cas13 for precise gene modulation in eye diseases
Vision Res. 2023 Sep 16;213:108317. doi: 10.1016/j.visres.2023.108317. Online ahead of print.ABSTRACTGene therapy is a flourishing field with the potential to revolutionize the treatment of genetic diseases. The emergence of CRISPR-Cas9 has significantly advanced targeted and efficient genome editing. Although CRISPR-Cas9 has demonstrated promising potential applications in various genetic disorders, it faces limitations in simultaneously targeting multiple genes. Novel CRISPR systems, such as Cas12 and Cas13, have been developed to overcome these challenges, enabling multiplexing and providing unique advantages. Cas13, in...
Source: Vision Research - September 18, 2023 Category: Opthalmology Authors: Fabio Bigini Soo Hyeon Lee Young Joo Sun Yang Sun Vinit B Mahajan Source Type: research
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease
EMBO Mol Med. 2023 Aug 29:e17393. doi: 10.15252/emmm.202317393. Online ahead of print.ABSTRACTDeafness affects 5% of the world's population, yet there is a lack of treatments to prevent hearing loss due to genetic causes. Norrie disease is a recessive X-linked disorder, caused by NDP gene mutation. It manifests as blindness at birth and progressive sensorineural hearing loss, leading to debilitating dual sensory deprivation. To develop a gene therapy, we used a Norrie disease mouse model (Ndptm1Wbrg ), which recapitulates abnormal retinal vascularisation and progressive hearing loss. We delivered human NDP cDNA by intraven...
Source: Molecular Medicine - August 29, 2023 Category: Molecular Biology Authors: Valda Pauzuolyte Aara Patel James R Wawrzynski Neil J Ingham Yeh Chwan Leong Rajvinder Karda Maria Bitner-Glindzicz Wolfgang Berger Simon N Waddington Karen P Steel Jane C Sowden Source Type: research
Soluble CX3CL1-expressing retinal pigment epithelium cells protect rod photoreceptors in a mouse model of retinitis pigmentosa
CONCLUSIONS: Transgenic hESCs differentiate into hRPE cells and retain sCX3CL1 transgene expression both in vitro and in vivo. Moreover, hRPE cells delivered to the subretinal space of rd10 mice prevented photoreceptor degeneration in a local-acting manner, suggesting that this approach could have applications for preserving photoreceptors in specific subregions of the retina, such as the macula. Overall, our study not only reveals the potential of a combined cell and gene therapy for the treatment of RP, but also the possibility of using hRPE cells to deliver therapeutic biologics in situ to treat diseases over long-term....
Source: Cell Research - August 22, 2023 Category: Cytology Authors: Eric D Jong Sabiha Hacibekiroglu Lily Guo Evan Sawula Biao Li Chengjin Li Margaret T Ho Molly S Shoichet Valerie A Wallace Andras Nagy Source Type: research
Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B
Vision Res. 2023 Aug 14;212:108311. doi: 10.1016/j.visres.2023.108311. Online ahead of print.ABSTRACTUsher syndrome type 1B (USH1B) is a deaf-blindness disorder, caused by mutations in the MYO7A gene, which encodes the heavy chain of an unconventional actin-based motor protein. Here, we examined the two retinal isoforms of MYO7A, IF1 and IF2. We compared 3D models of the two isoforms and noted that the 38-amino acid region that is present in IF1 but absent from IF2 affects the C lobe of the FERM1 domain and the opening of a cleft in this potentially important protein binding domain. Expression of each of the two isoforms o...
Source: Vision Research - August 16, 2023 Category: Opthalmology Authors: W Blake Gilmore Nan W Hultgren Abhishek Chadha Sonia B Barocio Joyce Zhang Oksana Kutsyr Miguel Flores-Bellver M Valeria Canto-Soler David S Williams Source Type: research
Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand
This study found that optometrists in Australia and New Zealand have a high level of interest in ocular genetics topics. However, knowledge gaps include referral pathways and awareness of genetic testing and gene therapy outcomes. Addressing perceived barriers to access and promoting sharing of knowledge between interdisciplinary networks can set the foundation for genetic education agendas in primary eye care.PMID:37553298 | DOI:10.1111/cge.14415
Source: Clinical Genetics - August 8, 2023 Category: Genetics & Stem Cells Authors: Alexis Ceecee Britten-Jones Heather G Mack Andrea L Vincent Lisa J Hill Thomas L Edwards Lauren N Ayton Source Type: research
Gene augmentation therapy to rescue degenerative photoreceptors in a Cwc27 mutant mouse model
In this study, we demonstrated that subretinal injection of AAV8-GRK-Cwc27-FLAG in mutant mice can improve the functionality and morphology of the retina. Immunostaining analyses revealed a notable decrease in photoreceptor degeneration, including cone cell degeneration, in the AAV-injected eyes compared to the PBS-injected eyes. Based on these results, gene replacement therapy could be a promising method for treating retinal degeneration caused by mutations in Cwc27.PMID:37479075 | DOI:10.1016/j.exer.2023.109596
Source: Experimental Eye Research - July 21, 2023 Category: Opthalmology Authors: Jiaxiong Lu Karen Q Zheng Renae Elaine Bertrand Joseph Quinlan Salma Ferdous Tanmay Srinivasan Soo Oh Keqing Wang Rui Chen Source Type: research
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic
Immunobiology. 2023 Jun 5;228(5):152410. doi: 10.1016/j.imbio.2023.152410. Online ahead of print.ABSTRACTComplement factor I (FI) is the nexus for classical, lectin and alternative pathway complement regulation. FI is an 88 kDa plasma protein that circulates in an inactive configuration until it forms a trimolecular complex with its cofactor and substrate whereupon a structural reorganization allows the catalytic triad to cleave its substrates, C3b and C4b. In keeping with its role as the master complement regulatory enzyme, deficiency has been linked to immunopathology. In the setting of complete FI deficiency, a consumpt...
Source: Immunobiology - July 21, 2023 Category: Allergy & Immunology Authors: T M Hallam S J Sharp A Andreadi D Kavanagh Source Type: research
Gene augmentation therapy to rescue degenerative photoreceptors in a Cwc27 mutant mouse model
In this study, we demonstrated that subretinal injection of AAV8-GRK-Cwc27-FLAG in mutant mice can improve the functionality and morphology of the retina. Immunostaining analyses revealed a notable decrease in photoreceptor degeneration, including cone cell degeneration, in the AAV-injected eyes compared to the PBS-injected eyes. Based on these results, gene replacement therapy could be a promising method for treating retinal degeneration caused by mutations in Cwc27.PMID:37479075 | DOI:10.1016/j.exer.2023.109596
Source: Cell Research - July 21, 2023 Category: Cytology Authors: Jiaxiong Lu Karen Q Zheng Renae Elaine Bertrand Joseph Quinlan Salma Ferdous Tanmay Srinivasan Soo Oh Keqing Wang Rui Chen Source Type: research
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic
Immunobiology. 2023 Jun 5;228(5):152410. doi: 10.1016/j.imbio.2023.152410. Online ahead of print.ABSTRACTComplement factor I (FI) is the nexus for classical, lectin and alternative pathway complement regulation. FI is an 88 kDa plasma protein that circulates in an inactive configuration until it forms a trimolecular complex with its cofactor and substrate whereupon a structural reorganization allows the catalytic triad to cleave its substrates, C3b and C4b. In keeping with its role as the master complement regulatory enzyme, deficiency has been linked to immunopathology. In the setting of complete FI deficiency, a consumpt...
Source: Immunobiology - July 21, 2023 Category: Allergy & Immunology Authors: T M Hallam S J Sharp A Andreadi D Kavanagh Source Type: research
