defining a novel rpgr phenotype of sector retinitis pigmentosa with cone dystrophy

Original title: “Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.”

whole exome sequencing in a consanguinity enriched south indian retinitis pigmentosa cohort diagnostic yield and molecular spectrum

Original title: “Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.”

inflammatory molecules in tear fluid in retinitis pigmentosa an exploratory case control study

Original title: “Inflammatory molecules in tear fluid in retinitis pigmentosa: an exploratory case-control study.”

past studies suggest potential therapies for newly discovered retinitis pigmentosa mutations in u6 and u4 snrnas

Original title: “Past studies suggest potential therapies for newly discovered retinitis pigmentosa mutations in U6 and U4 snRNAs.”

assessment of the lifetime costs of severe visual impairment due to retinitis pigmentosa

Original title: “Assessment of the Lifetime Costs of Severe Visual Impairment Due to Retinitis Pigmentosa.”

persistent bilateral optic disc swelling in non syndromic retinitis pigmentosa a case report

Original title: “Persistent Bilateral Optic Disc Swelling in Non-Syndromic Retinitis Pigmentosa: A Case Report.”

deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset

Original title: “Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.”

This rare inherited eye disease causes progressive vision loss and eventual blindness, with no approved treatments currently available ... The Department of Health – Abu Dhabi has announced the launch and funding of a UAE-first clinical trial for a novel gene therapy for MerTK-related retinitis ... This rare inherited eye disease causes progressive vision loss and eventual blindness, with no approved treatments currently available ... The Department of Health – Abu Dhabi has announced the launch and funding of a UAE-first clinical trial for a novel gene therapy for MerTK-related retinitis pigmentosa (RP) developed by Opus Genetics. The initiative brings together Opus Genetics (a US-based clinical-stage biopharmaceutical company), the Innovative Research Oversight and Support (IROS) division of the M42 group, Cleveland Clinic Abu Dhabi to accelerate the development of novel gene therapies for Inherited Retinal Diseases, which affect approximately five percent of the population in this region. Cleveland Clinic Abu Dhabi will serve as the clinical site, while IROS will oversee the trial design, patient recruitment and clinical operations. Clinical development activities are expected to commence in 2026, marking a milestone for rare disease treatment in Abu Dhabi and the region. This rare inherited eye disease causes progressive vision loss and eventual blindness, with no approved treatments currently available. This groundbreaking initiative reflects Abu Dhabi’s commitment to advancing innovative solutions for rare conditions and reinforces the Emirate’s position as a global hub for life sciences and biomedical innovation. The first-of-its-kind clinical trial is the result of a collaborative effort between the Department of Health – Abu Dhabi and the Authority of Social Contribution - Ma'an, reflecting their shared commitment to advancing healthcare research and innovation in Abu Dhabi. George Magrath, M.D., Chief Executive Officer of Opus Genetics, said, “For patients living with MerTK-related retinitis pigmentosa, this trial represents the first real opportunity to change the course of a disease that has historically led to inevitable vision loss.” · Dr. Fahed Almarzooqi, Chief Executive Officer of M42's Integrated Health Solutions, stated, “This trial represents a pivotal step in strengthening Abu Dhabi’s position as a global hub for biotech innovation. Through strategic partnerships and clinical excellence, we are translating scientific breakthroughs into real-world treatments for patients with urgent, unmet needs.”

Original title: “Abu Dhabi launches UAE’s first gene therapy clinical trial”

compound heterozygous mutations in the ush2a gene causing non syndromic retinitis pigmentosa

Original title: “Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa.”

Gene therapies have the potential to cure some diseases, but they are extraordinarily expensive. Location can also be a big hurdle for patients seeking this specialized care. There are additional steps and rules for participating in clinical trials. The Louisiana Department of Health, which is responsible for the state's Medicaid program, did not respond to requests for comment. ... The exact number of patients who've received these kinds of treatments is hard to pin down because there's no central reporting system, says Sarah Kikkert, a spokesperson for the · American Society of Gene and Cell Therapy. Aradigm to help make gene therapy more widely available. ... called Luxturna, but it doesn't work for the genetic mutation he has. So he's hoping to get into a clinical trial for one of the Gene therapies are usually one-time treatments that break into cells and modify the disease-causing genes. He has retinitis pigmentosa, a rare, inherited eye disease that runs in his family.

Original title: “Gene therapy is transforming lives, but for many Americans it's hard to reach”

Gene therapies have the potential to cure some diseases, but they are extraordinarily expensive. Location can also be a big hurdle for patients seeking this specialized care. LUPKIN: Shrank recently founded a company called Aradigm to make gene therapy more widely available. As for Vidrine, there is already a gene therapy for retinitis pigmentosa on the market, but it doesn't work for the genetic mutation he has. So he's hoping to get into a clinical trial for one of the other therapies being developed. Gene therapies have the potential to cure some diseases, but they're very expensive, and only specialized hospitals offer them. That means many patients in need are going untreated. NPR's Sydney Lupkin reports. SYDNEY LUPKIN, BYLINE: Dustin Vidrine found out he has a rare eye disease when he was a teen. LUPKIN: Then a doctor told him about gene therapies. These are usually one-time treatments that break into cells and modify the disease-causing genes. Gene therapy access is limited by cost and geography Gene therapies have the potential to cure some diseases, but they are extraordinarily expensive.

Original title: “Gene therapy access is limited by cost and geography : NPR”

bi allelic variants in fsd1l cause retinitis pigmentosa with or without neurological involvement

Original title: “Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.”

rpgrorf15 nanopore long read sequencing improves retinitis pigmentosa molecular diagnosis for men and women

Original title: “RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.”