You searched for "Gene"
Gene profiling for a family with Duane’s retraction syndrome
The aim of this study was to describe the clinical and genomic features of a family with special types of Duane’s retraction syndrome (DRS). The mother and son had obvious clinical features. The son displayed features of horizontal gaze palsy...Gene therapy for inherited retinal disease: the Manchester Ocular Gene Therapy Group MDT service
4 August 2021
| Jane Ashworth, Tsveta Ivanova, Susmito Biswas, Assad Jalil, Georgina Hall, Rebecca Redmond, Graeme CM Black (Prof), William Newman, Neil Parry, Jane CB Gray, Charlotte Skitterall
|
EYE - Paediatrics, EYE - Vitreo-Retinal, EYE - General
The authors describe the process set up in Manchester for the optimum delivery and assessment of a new gene therapy treatment for patients with RPE65 IRD. Inherited retinal dystrophies (IRDs) are the second commonest cause of severe visual impairment in...
My Top Five: Promising gene therapies for ocular conditions
4 December 2024
| Ameer Khamise
|
EYE - Vitreo-Retinal
Gene therapy, a pivotal advancement in modern medicine, particularly shines in ophthalmology. By targeting defective genes with engineered vectors, this approach promises significant strides in treating inherited retinal diseases. This article reviews the top five gene therapies in late-stage trials,...
My Top Five: Promising gene therapies for ocular conditions
4 December 2024
| Ameer Khamise
|
EYE - Vitreo-Retinal
Gene therapy, a pivotal advancement in modern medicine, particularly shines in ophthalmology. By targeting defective genes with engineered vectors, this approach promises significant strides in treating inherited retinal diseases. This article reviews the top five gene therapies in late-stage trials,...
Gene therapy: perspectives from young adults with Leber’s congenital amaurosis
5 June 2023
| Ivan Yip
|
EYE - Vitreo-Retinal
The authors present their telephone survey data of 10 patients with a mean age of 24.4 years regarding their opinion on gene therapy for their Leber’s congenital amaurosis. Patients were recruited at the Hospital for Sick Children, Toronto. Of the...
Prognostic factors for visual acuity in patients with LHON after gene therapy
5 February 2020
| Ivan Yip
|
EYE - Vitreo-Retinal
This retrospective study investigates prognostic factors affecting the visual acuity after a single intravitreal injection of rAAV2-ND4 gene therapy in 53 patients with Leber’s hereditary optic neuropathy (LHON) with mutation at site 11 778. Patients were reviewed one and three...
Renewed momentum in ocular gene and cell therapy, broadening application to chronic disease
Gene and cell therapies offer the prospect of ground-breaking new avenues for the treatment of diseases, reflected in a renewed explosion of interest and investment in retinal gene therapy. Rod McNeil reports recent clinical trial readouts across a diverse range...
Long-term effect of gene therapy on Leber’s congenital amaurosis
1 October 2015
| Jonathan CP Roos
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EYE - Vitreo-Retinal
After reporting the first successful gene therapy results for RPE65 deficiency in three patients in a brief report in 2008, the same team from London now report the results of 12 patients followed up for three years after transfection. As...
Gene Vision launched to support those diagnosed with genetic eye diseases
2 December 2020
A new website, Gene Vision (https://gene.vision), has been developed by Professor Mariya Moosajee and Dr Alex Yeong, supported by Dr Peter Thomas (Director of Digital Innovation at Moorfields Eye Hospital). The new site is intended for adults, children and their families who are diagnosed with rare genetic eye diseases.
Age and gender impacts effectiveness of new gene therapy treatments for eye diseases, new study finds
14 February 2025
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research, genetics, gene therapy, pathology, education, Adeno-Associated Virus, inflammation
Older women could be vulnerable to harmful inflammation from new gene therapies to treat incurable eye diseases, new research has found. The University of Bristol-led study, published in Molecular Therapy, reveal how age and gender affects inflammation caused by gene...
In conversation with Robert MacLaren
2 December 2019
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EYE - Vitreo-Retinal, EYE - General
Professor Robert MacLaren gave the Keeler Lecture at the Royal College of Ophthalmologists Annual Meeting in May 2019 on gene therapy for retinitis pigmentosa. We caught up with him afterwards to find out more. What are the key messages of...
Genetic analysis of choroideremia families
1 February 2016
| Anjali Gupta
|
EYE - Vitreo-Retinal
Choroideremia (CHM) is a rare X linked recessive chorioretinal dystrophy. Symptoms include nyctalopia and progressive peripheral field loss. Female carriers may have mild symptoms. Choroideremia is known to be caused by a mutation in the CHM gene. A multicentre human...
