Gene therapy that gives cricket-mad Jake, 23, a chance to hit blindness for six

Jake Ternent, 22, from Ludworth, Co Durham had resigned himself to going completely blind due to an inherited degenerative eye condition. However, pioneering gene therapy may reverse the damage.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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In a clinical trial, gene therapy for X-linked retinitis pigmentosa improved vision.
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Editors ' Choice Source Type: research
Conclusions: Molecular testing for inherited ocular conditions is feasible in developing countries by sending samples to certified foreign laboratories, with a mutation detection rate comparable to published values in developed countries. Further studies to identify more disease-causing genes may improve the overall sensitivity. PMID: 32141364 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet 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
The first patients have received a revolutionary new gene therapy that can restore eyesight.
Source: NHS Networks - Category: UK Health Source Type: news
First patients begin promising gene therapy Related items fromOnMedica Gene therapy hopes for AMD Baby born with three-person DNA Myopia could be linked to longer periods spent in education Mexican fish offer clues on heart repair Online resource aims to help GPs spot early signs of degenerative muscle disease
Source: OnMedica Latest News - Category: UK Health Source Type: news
ConclusionThe results of the model show VN to be a cost-effective use of healthcare resources in the UK at list price. The availability of a commercial discount in the UK (as considered in the NICE appraisal) means that in reality the ICER will be even lower.Plain Language SummaryPlain language summary available for this article.
Source: Advances in Therapy - Category: Drugs & Pharmacology Source Type: research
Leading ophthalmologists call on the new government to develop a national plan to fight blindness and address the critical lack of fundingAs leading ophthalmologists and researchers we are joining the eye research charity Fight for Sight to call for urgent action on blindness in 2020 to address the research funding gap.We know that serious sight loss doesn ’t discriminate – it can affect anyone at any time and it is on the increase. Science can already do so much and with the advent of new gene therapies and stem cell treatments we are so close to outcomes that were not possible a decade ago. Yet so much more n...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Blindness and visual impairment Medical research Disability Health Society Science Conservatives Source Type: news
Authors: Cho C, Duong TT, Mills JA Abstract Patient-derived human-induced pluripotent stem cells (iPSCs) have been critical in advancing our understanding of the underlying mechanisms of numerous retinal disorders. Many of these retinal disorders have no effective treatment and result in severe visual impairment and even blindness. Among the retinal degenerative diseases modeled by iPSCs are age-related macular degeneration (AMD), glaucoma, Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and autosomal dominant retinitis pigmentosa (adRP). In addition to studying retinal disease ontogenesis and patholog...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
ConclusionsLow vision and nystagmus observed by parents, particularly in the first year of life, may represent a red flag, prompting an appropriate ophthalmological workup for inherited retinal dystrophy.
Source: Italian Journal of Pediatrics - Category: Pediatrics Source Type: research
Spark will continue its operations in Philadelphia as an independent company within the Roche Group             Basel, 17 December 2019 - Roche (SIX: RO, ROG; OTCQX: RHHBY) and Spark Therapeutics, Inc. (NASDAQ: ONCE) ( “Spark”) today announced the completion of the acquisition following the receipt of regulatory approval from all government authorities required by the merger agreement. Commenting on this important step forward, Severin Schwan, CEO of Roche, said, “We are excited about this important milestone because we believe that together...
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
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