scholarly journals Gene Therapy for Retinitis Pigmentosa

10.5772/52987 ◽  
2013 ◽  
Author(s):  
Hiroshi Tomita ◽  
Eriko Sugano ◽  
Hitomi Isago ◽  
Namie Murayama ◽  
Makoto Tamai
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa

In vivo potency testing of subretinal rAAV5.hCNGB1 gene therapy in the Cngb1 knockout mouse model of retinitis pigmentosa

2021 ◽  
Author(s):  
Johanna E Wagner ◽  
Lena Zobel ◽  
Maximilian Joachim Gerhardt ◽  
Catherine R O'Riordan ◽  
Amy Frederick ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Retinitis Pigmentosa ◽  
Knockout Mouse ◽  
Knockout Mouse Model

Retinal Transplantation, Stem Cell and Gene Therapy in Retinitis Pigmentosa

2021 ◽  
pp. 131-139
Keyword(s):  
Gene Therapy ◽  
Stem Cell ◽  
Retinitis Pigmentosa ◽  
Retinal Dystrophy ◽  
Gene Replacement ◽  
Disease Genes ◽  
Functional Roles ◽  
Tunnel Vision ◽  
Hereditary Retinal Dystrophy ◽  
Cell And Gene Therapy

Retinitis pigmentosa is the most common hereditary retinal dystrophy which has marked clinical and genetic heterogeneity. Common presentations among this disorder include night blindness, tunnel vision, and subsequent progression to complete blindness respectively. The known causative disease genes have a variety of developmental and functional roles, with mutations in more than 120 genes shown to be responsible for the phenotypes. In addition, mutations within the same gene have been shown to cause different disease phenotypes, even within the same family, highlighting further levels of complexity. In recent years significant advancements have been made in the understanding of the pathogenesis of the disease and stem cell and gene replacement treatments have been proposed as potentially efficacious therapies. This review summarizes the clinical development of retinal stem cell and gene therapy.

scholarly journals Dose Range Finding Studies with Two RPGR Transgenes in a Canine Model of X-Linked Retinitis Pigmentosa Treated with Subretinal Gene Therapy

2020 ◽  
Vol 31 (13-14) ◽  
pp. 743-755 ◽  
Author(s):  
Chunjuan Song ◽  
Valérie L. Dufour ◽  
Artur V. Cideciyan ◽  
Guo-Jie Ye ◽  
Malgorzata Swider ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa ◽  
Dose Range ◽  
Canine Model ◽  
Range Finding

Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa

2016 ◽  
Vol 12 (8) ◽  
pp. 2251-2260 ◽  
Author(s):  
Andrea Pensado ◽  
Francisco J. Diaz-Corrales ◽  
Berta De la Cerda ◽  
Lourdes Valdés-Sánchez ◽  
Ana Aramburu del Boz ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Gene Delivery ◽  
Retinitis Pigmentosa ◽  
Viral Vectors

scholarly journals Usher syndrome gene mutation spectrum in Russian patients

2020 ◽  
pp. 38-39
Author(s):  
М.Е. Иванова ◽  
А.М. Демчинский ◽  
В.С. Каймонов ◽  
И.В. Миронова ◽  
И.В. Володин ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa ◽  
Gene Mutation ◽  
Clinical Diagnosis ◽  
Usher Syndrome ◽  
Gene Mutations ◽  
Mutation Spectrum ◽  
Initial Sample ◽  
New Mutations

Изучение спектра мутаций и совершенствование диагностики синдрома Ашера (СА) особо актуальны в связи с разрабатываемыми подходами к генной терапии заболевания. Среди 46 пациентов с признаками СА патогенные мутации выявлены нами у 40 (87%) пациентов. СА I и II типов определены у 26% и 57% пробандов исходной выборки, соответственно. У пациентов с СА I выявлены мутации в генах MYO7A (73%), CDH23 (7%), PCDH15 (7%), и USH1C (13%). Наибольшую частоту показала мутация MYO7A p.Q18*. Описано 6 новых мутаций в гене MYO7A, и две - в гене PCDH15. У пациентов с СА II выявлена 21 мутация гена USH2A, 5 из которых описаны впервые. Наибольшую частоту показала мутация USH2A p.W3955*. У двух пациентов выявлены мутации в генах несиндромального пигментного ретинита RHO и RPGR, что позволило уточнить клинический диагноз. Studying the mutation spectrum and improvement of molecular verification of the Usher syndrome (USH) are of particular relevance as gene therapy emerges. Among 46 patients with signs of Usher syndrome we identified mutations in 40 (85%) patients, establishing a diagnosis of USH1 and USH2 for 26% and 57% of the probands of the initial sample, respectively. Patients with USH1 showed mutations in the MYO7A (73%), CDH23 (7%), PCDH15 (7%), and USH1C (13%) genes. MYO7A p.Q18* mutation showed the highest frequency. We have identified 6 new mutations in the MYO7A gene, and 2 in the PCDH15 gene. In USH2 patients, 21 USH2A gene mutations were identified, 5 of which are novel. The USH2A mutation p.W3955* was most frequent. Two patients showed mutations in the non-syndromic retinitis pigmentosa genes RHO and RPGR, which made it possible to clarify the clinical diagnosis.

Hope on the horizon for inherited blindness

2020 ◽  
Vol 12 (535) ◽  
pp. eabb2772
Author(s):  
Bence György
Keyword(s):  
Clinical Trial ◽  
Gene Therapy ◽  
Retinitis Pigmentosa

In a clinical trial, gene therapy for X-linked retinitis pigmentosa improved vision.

scholarly journals Preclinical Potency and Safety Studies of an AAV2-Mediated Gene Therapy Vector for the Treatment of MERTK Associated Retinitis Pigmentosa

2013 ◽  
Vol 24 (1) ◽  
pp. 23-28 ◽  
Author(s):  
Thomas J. Conlon ◽  
Wen-Tao Deng ◽  
Kirsten Erger ◽  
Travis Cossette ◽  
Ji-jing Pang ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa ◽  
Gene Therapy Vector ◽  
Safety Studies
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