keyword
MENU ▼
Read by QxMD icon Read
search

gene therapy eye

keyword
https://read.qxmd.com/read/30770713/innate-immunity-and-interferons-in-the-pathogenesis-of-sj%C3%A3-gren-s-syndrome
#1
Iris L A Bodewes, Albin Björk, Marjan A Versnel, Marie Wahren-Herlenius
Primary SS (pSS) is a rheumatic disease characterized by an immune-mediated exocrinopathy, resulting in severe dryness of eyes and mouth. Systemic symptoms include fatigue and joint pain and a subset of patients develop more severe disease with multi-organ involvement. Accumulating evidence points to involvement of innate immunity and aberrant activity of the type I IFN system in both the initiation and propagation of this disease. Analysis of the activity of IFN-inducible genes has evidenced that more than half of pSS patients present with a so-called 'type I IFN signature'...
February 15, 2019: Rheumatology
https://read.qxmd.com/read/30719486/trans-ocular-electric-current-in-vivo-enhances-aav-mediated-retinal-gene-transduction-after-intravitreal-vector-administration
#2
Hongman Song, Ronald A Bush, Yong Zeng, Haohua Qian, Zhijian Wu, Paul A Sieving
Adeno-associated virus (AAV) vector-mediated gene delivery is a promising approach for therapy, but implementation in the eye currently is hampered by the need for delivering the vector underneath the retina, using surgical application into the subretinal space. This limits the extent of the retina that is treated and may cause surgical injury. Vector delivery into the vitreous cavity would be preferable because it is surgically less invasive and would reach more of the retina. Unfortunately, most conventional, non-modified AAV vector serotypes penetrate the retina poorly from the vitreous; this limits efficient transduction and expression by target cells (retinal pigment epithelium and photoreceptors)...
June 14, 2019: Molecular Therapy. Methods & Clinical Development
https://read.qxmd.com/read/30702218/suprachoroidally-injected-pharmacological-agents-for-the-treatment-of-chorio-retinal-diseases-a-targeted-approach
#3
REVIEW
Zohar Habot-Wilner, Glenn Noronha, Charles C Wykoff
Delivery of pharmaceuticals to the posterior segment presents challenges that arise from the anatomy and clearance pharmacokinetics of the eye. Systemic and several local administration options [topical, periocular, intravitreal (IVT) and subretinal] are in clinical use, each with a unique benefit to risk profile shaped by factors including the administered agent, frequency of dosing, achievable pharmaceutical concentrations within posterior segment structures versus elsewhere in the eye or the body, invasiveness of the procedure and the inherent challenges with some administration methods...
January 31, 2019: Acta Ophthalmologica
https://read.qxmd.com/read/30671314/evaluation-of-aav-dj-vector-for-retinal-gene-therapy
#4
Yusaku Katada, Kenta Kobayashi, Kazuo Tsubota, Toshihide Kurihara
Purpose: The most common virus vector used in gene therapy research for ophthalmologic diseases is the adeno-associated virus (AAV) vector, which has been used successfully in a number of preclinical and clinical studies. It is important to evaluate novel AAV vectors in animal models for application of clinical gene therapy. The AAV-DJ (type 2/type 8/type 9 chimera) was engineered from shuffling eight different wild-type native viruses. In this study, we investigated the efficiency of gene transfer by AAV-DJ injections into the retina...
2019: PeerJ
https://read.qxmd.com/read/30670814/author-correction-gene-and-mutation-independent-therapy-via-crispr-cas9-mediated-cellular-reprogramming-in-rod-photoreceptors
#5
Jie Zhu, Chang Ming, Xin Fu, Yaou Duan, Duc Anh Hoang, Jeffrey Rutgard, Runze Zhang, Wenqiu Wang, Rui Hou, Daniel Zhang, Edward Zhang, Charlotte Zhang, Xiaoke Hao, Wenjun Xiong, Kang Zhang
In the initial published version of this article, we inadvertently stated that "all procedures were conducted with the approval and under the supervision of the Institutional Animal Care and Use Committee (IACUC) at the University of California, San Diego". Given that all animal work that was conducted for this project was performed at the City University of Hong Kong and Guangzhou Women and Children's Medical Center, we would like to instead, acknowledge these programs for their oversight of the animal studies...
January 22, 2019: Cell Research
https://read.qxmd.com/read/30657523/vcan-canonical-splice-site-mutation-is-associated-with-vitreoretinal-degeneration-and-disrupts-an-mmp-proteolytic-site
#6
Peter H Tang, Gabriel Velez, Stephen H Tsang, Alexander G Bassuk, Vinit B Mahajan
Purpose: To gain insight into the pathophysiology of vitreoretinal degeneration, the clinical course of three family members with Versican Vitreoretinopathy (VVR) is described, and a canonical splice site mutation in the gene encoding for versican (VCAN) protein was biochemically analyzed. Methods: A retrospective chart review, human eye histopathology, Sanger DNA sequencing, protein structural modeling, and in vitro proteolysis assays were performed. Results: The proband (II:1), mother (I:2), and younger sibling (II:2) suffered retinal degeneration with foveal sparing and retinal detachments with proliferative vitreoretinopathy, features that were confirmed on histopathologic analysis...
January 2, 2019: Investigative Ophthalmology & Visual Science
https://read.qxmd.com/read/30655352/optogenetic-stimulation-of-the-superior-colliculus-confers-retinal-neuroprotection-in-a-mouse-glaucoma-model
#7
E Geeraerts, M Claes, E Dekeyster, M Salinas-Navarro, L De Groef, C Van den Haute, I Scheyltjens, V Baekelandt, L Arckens, L Moons
Glaucoma is characterized by a progressive loss of retinal ganglion cells (RGCs) in the eye, which ultimately results in visual impairment or even blindness. As current therapies often fail to halt disease progression, there is an unmet need for novel neuroprotective therapies to support RGC survival. Various research lines suggest that visual target centers in the brain support RGC functioning and survival. We explored whether increasing neuronal activity in one of these projection areas could improve survival of RGCs in a mouse glaucoma model...
January 17, 2019: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://read.qxmd.com/read/30634448/establishing-liposome-immobilized-dexamethasone-releasing-pdms-membrane-for-the-cultivation-of-retinal-pigment-epithelial-cells-and-suppression-of-neovascularization
#8
Tzu-Wei Lin, Yueh Chien, Yi-Ying Lin, Mong-Lien Wang, Aliaksandr A Yarmishyn, Yi-Ping Yang, De-Kuang Hwang, Chi-Hsien Peng, Chih-Chien Hsu, Shih-Jen Chen, Ke-Hung Chien
Age-related macular degeneration (AMD) is the eye disease with the highest epidemic incidence, and has great impact on the aged population. Wet-type AMD commonly has the feature of neovascularization, which destroys the normal retinal structure and visual function. So far, effective therapy options for rescuing visual function in advanced AMD patients are highly limited, especially in wet-type AMD, in which the retinal pigmented epithelium and Bruch's membrane structure (RPE-BM) are destroyed by abnormal angiogenesis...
January 9, 2019: International Journal of Molecular Sciences
https://read.qxmd.com/read/30632414/research-and-development-of-anti-parkinson-s-drugs-an-analysis-from-the-perspective-of-technology-flows-measured-by-patent-citations
#9
Jingwen Qua, Jiahong Lua, Yuanjia Hua
By 2020, nearly one million people will live with Parkinson's disease (PD) in the U.S. This disorder has a significant impact on patients' quality of life and is a burden on families and society. Protracted efforts have been made to treat the disease. Cumulative technological innovations are encapsulated by patents, and patent citations have been used to analyze technology diffusion processes in R&D, which is essential to identifying technology evolution trends and providing a review of PD treatment from the perspective of technology flows...
January 11, 2019: Expert Opinion on Therapeutic Patents
https://read.qxmd.com/read/30617669/adeno-associated-viral-gene-therapy-for-inherited-retinal-disease
#10
REVIEW
Tuyen Ong, Mark E Pennesi, David G Birch, Byron L Lam, Stephen H Tsang
Inherited retinal diseases (IRDs) are a group of rare, heterogenous eye disorders caused by gene mutations that result in degeneration of the retina. There are currently limited treatment options for IRDs; however, retinal gene therapy holds great promise for the treatment of different forms of inherited blindness. One such IRD for which gene therapy has shown positive initial results is choroideremia, a rare, X-linked degenerative disorder of the retina and choroid. Mutation of the CHM gene leads to an absence of functional Rab escort protein 1 (REP1), which causes retinal pigment epithelium cell death and photoreceptor degeneration...
January 7, 2019: Pharmaceutical Research
https://read.qxmd.com/read/30604586/ectopic-intracranial-retinoblastoma-in-a-3-5-month-old-infant-without-eye-involvement-and-without-evidence-of-heritability
#11
Tristan Römer, Petra Temming, Dietmar R Lohmann, Dominik Sturm, Andreas von Deimling, Bernd Sellhaus, Michael Mull, Udo Kontny, Olga Moser
Heritable retinoblastoma can rarely be associated with a midline intracranial neuroblastic tumor, referred to as trilateral retinoblastoma. We present an unusual midline brain tumor in an infant that was identified as ectopic retinoblastoma by histopathology, DNA methylation analysis, and molecular genetic detection of biallelic somatic inactivation of the RB1 gene. There was no ocular involvement, and germline mutation was excluded. In this nonresectable tumor, treatment with systemic chemotherapy including high-dose therapy with autologous stem cell transplantation, but without definite local therapy, resulted in long-lasting tumor control...
January 2, 2019: Pediatric Blood & Cancer
https://read.qxmd.com/read/30592498/a-novel-achromatopsia-mouse-model-resulting-from-a-naturally-occurring-missense-change-in-cngb3
#12
Mark M Hassall, Alun R Barnard, Harry O Orlans, Michelle E McClements, Peter Charbel Issa, Sher A Aslam, Robert E MacLaren
Purpose: A local colony of inbred mice (129S6/SvEvTac origin), in isolation for over a decade, were found to have absent light-adapted electroretinogram (ERG) responses. We investigated the inheritance and genetic basis of this phenotype of cone photoreceptor function loss. Methods: An affected 129S6/SvEvTac colony animal was outcrossed to a C57BL/6J mouse and intercrossed to investigate inheritance in the F2 generation. We performed ERG testing and targeted resequencing on genes of interest (Gnat2, Cnga3, Cngb3, Pde6c, Hcn1, Syne2)...
December 3, 2018: Investigative Ophthalmology & Visual Science
https://read.qxmd.com/read/30592494/a-novel-achromatopsia-mouse-model-resulting-from-a-naturally-occurring-missense-change-in-cngb3
#13
Mark M Hassall, Alun R Barnard, Harry O Orlans, Michelle E McClements, Peter Charbel Issa, Sher A Aslam, Robert E MacLaren
Purpose: A local colony of inbred mice (129S6/SvEvTac origin), in isolation for over a decade, were found to have absent light-adapted electroretinogram (ERG) responses. We investigated the inheritance and genetic basis of this phenotype of cone photoreceptor function loss. Methods: An affected 129S6/SvEvTac colony animal was outcrossed to a C57BL/6J mouse and intercrossed to investigate inheritance in the F2 generation. We performed ERG testing and targeted resequencing on genes of interest (Gnat2, Cnga3, Cngb3, Pde6c, Hcn1, Syne2)...
December 3, 2018: Investigative Ophthalmology & Visual Science
https://read.qxmd.com/read/30592472/a-novel-achromatopsia-mouse-model-resulting-from-a-naturally-occurring-missense-change-in-cngb3
#14
Mark M Hassall, Alun R Barnard, Harry O Orlans, Michelle E McClements, Peter Charbel Issa, Sher A Aslam, Robert E MacLaren
Purpose: A local colony of inbred mice (129S6/SvEvTac origin), in isolation for over a decade, were found to have absent light-adapted electroretinogram (ERG) responses. We investigated the inheritance and genetic basis of this phenotype of cone photoreceptor function loss. Methods: An affected 129S6/SvEvTac colony animal was outcrossed to a C57BL/6J mouse and intercrossed to investigate inheritance in the F2 generation. We performed ERG testing and targeted resequencing on genes of interest (Gnat2, Cnga3, Cngb3, Pde6c, Hcn1, Syne2)...
December 3, 2018: Investigative Ophthalmology & Visual Science
https://read.qxmd.com/read/30592468/a-novel-achromatopsia-mouse-model-resulting-from-a-naturally-occurring-missense-change-in-cngb3
#15
Mark M Hassall, Alun R Barnard, Harry O Orlans, Michelle E McClements, Peter Charbel Issa, Sher A Aslam, Robert E MacLaren
Purpose: A local colony of inbred mice (129S6/SvEvTac origin), in isolation for over a decade, were found to have absent light-adapted electroretinogram (ERG) responses. We investigated the inheritance and genetic basis of this phenotype of cone photoreceptor function loss. Methods: An affected 129S6/SvEvTac colony animal was outcrossed to a C57BL/6J mouse and intercrossed to investigate inheritance in the F2 generation. We performed ERG testing and targeted resequencing on genes of interest (Gnat2, Cnga3, Cngb3, Pde6c, Hcn1, Syne2)...
December 3, 2018: Investigative Ophthalmology & Visual Science
https://read.qxmd.com/read/30591984/pharmaceutical-development-of-aav-based-gene-therapy-products-for-the-eye
#16
REVIEW
Gerard A Rodrigues, Evgenyi Shalaev, Thomas K Karami, James Cunningham, Nigel K H Slater, Hongwen M Rivers
A resurgence of interest and investment in the field of gene therapy, driven in large part by advances in viral vector technology, has recently culminated in United States Food and Drug Administration approval of the first gene therapy product targeting a disease caused by mutations in a single gene. This product, LUXTURNA™ (voretigene neparvovec-rzyl; Spark Therapeutics, Inc., Philadelphia, PA), delivers a normal copy of the RPE65 gene to retinal cells for the treatment of biallelic RPE65 mutation-associated retinal dystrophy, a blinding disease...
December 27, 2018: Pharmaceutical Research
https://read.qxmd.com/read/30581441/role-of-herpes-simplex-virus-type-1-hsv-1-glycoprotein-k-gk-pathogenic-cd8-t-cells-in-exacerbation-of-eye-disease
#17
REVIEW
Ujjaldeep Jaggi, Shaohui Wang, Kati Tormanen, Harry Matundan, Alexander V Ljubimov, Homayon Ghiasi
HSV-1-induced corneal scarring (CS), also broadly referred to as Herpes Stromal Keratitis (HSK), is the leading cause of infectious blindness in developed countries. It is well-established that HSK is in fact an immunopathological disease. The contribution of the potentially harmful T cell effectors that lead to CS remains an area of intense study. Although the HSV-1 gene(s) involved in eye disease is not yet known, we have demonstrated that gK, which is one of the 12 known HSV-1 glycoproteins, has a crucial role in CS...
2018: Frontiers in Immunology
https://read.qxmd.com/read/30575280/a-detailed-in-vivo-analysis-of-the-retinal-nerve-fibre-layer-in-choroideremia
#18
Dun J Fu, Kanmin Xue, Jasleen K Jolly, Robert E MacLaren
PURPOSE: Choroideremia is a currently incurable X-linked recessive retinal degeneration that leads to blindness. Gene therapy approaches to date target the outer retinal layers. However, the choroideremia (CHM) gene is expressed in all retinal layers, and a previous study on a small cohort of choroideremia patients suggested possible thinning of the retinal nerve fibre layer (RNFL). The purpose of the study was to examine the RNFL in detail using advanced imaging techniques in a larger cohort of choroideremia patients...
December 21, 2018: Acta Ophthalmologica
https://read.qxmd.com/read/30567410/exploring-the-variable-phenotypes-of-rpgr-carrier-females-in-assessing-their-potential-for-retinal-gene-therapy
#19
Anika Nanda, Anna P Salvetti, Penny Clouston, Susan M Downes, Robert E MacLaren
Inherited retinal degenerations are the leading cause of blindness in the working population. X-linked retinitis pigmentosa (XLRP), caused by mutations in the Retinitis pigmentosa GTPase regulator ( RPGR ) gene is one of the more severe forms, and female carriers of RPGR mutations have a variable presentation. A retrospective review of twenty-three female RPGR carriers aged between 8 and 76 years old was carried out using fundoscopy, autofluorescence imaging (AF), blue reflectance (BR) imaging and optical coherence tomography (OCT)...
December 18, 2018: Genes
https://read.qxmd.com/read/30567205/leber-s-hereditary-optic-neuropathy-misdiagnosed-as-optic-neuritis-and-lyme-disease-in-a-patient-with-multiple-sclerosis
#20
Melinda Chang
A 28-year-old Caucasian man developed sudden painless vision loss in the right eye. He was diagnosed with optic neuritis. MRI showed white matter lesions consistent with multiple sclerosis (MS), but no optic nerve enhancement. Eight months later, the left eye was affected in the same manner. Examination showed right optic atrophy and apparent left optic disc swelling. Workup revealed positive Lyme IgG. Differential diagnosis included optic neuritis and Lyme optic neuropathy, and he was treated with intravenous steroids, intravenous immunoglobulin, plasmapheresis and intravenous ceftriaxone without improvement...
December 7, 2018: BMJ Case Reports
keyword
keyword
171541
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"