Results 61 to 70 of about 2,056 (145)
When Rare Is Not Small: Amyotrophic Lateral Sclerosis Initiatives and Therapy
Exploration, Volume 6, Issue 2, April 2026.In the precision‐medicine era, rare diseases must not be sidelined in translational infrastructure. The Mr. Cai Lei—led “Ice‐Breaking Team” turns an amyotrophic lateral sclerosis patient community into a sustainable ecosystem, realigning philanthropy, data, and research and development to reshape rare‐disease pipelines and guide precision therapies ...
Yang Liu +6 more
wiley +1 more source
Ciliary Defects in Inherited Retinal Diseases
Advanced Genetics, Volume 7, Issue 1, March 2026.The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
wiley +1 more source
An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy
, 2022 Background Inherited retinal diseases (IRDs) are a clinically and genetically heterogenous group of disorders leading to early-onset vision loss. RPE65 is a known IRD disease gene, encoding a crucial enzyme of the visual cycle that is important for ...
De Baere, Elfride +4 more
core
The economic impact of inherited retinal diseases: a systematic literature review [PDF]
Affecting over 2 million people worldwide, inherited retinal disease (IRD) is considered one of the leading causes of blindness among the working-age population. The recent market entry of Luxturna® to treat Leber Congenital Amaurosis (LCA) presents gene
Murphy, Aileen +2 more
core +2 more sources
Gene-terapia: ikuspegi terapeutiko berria begietako gaitzen tratamenduan [PDF]
, 2019 Gene-terapia etorkizun handiko tresna bezala sortu da tratamendurik ez duten asaldurentzat. Azido nukleiko terapeutikoen administrazioan oinarritzen da gaixotasunak tratatzeko.
Solinís Aspiazu, María Ángeles +7 more
core +1 more source
3D Quantification of Viral Transduction Efficiency in Living Human Retinal Organoids
Small Methods, Volume 10, Issue 2, 22 January 2026.Optimization of viral vectors and their testing in human tissue is crucial to gene therapy development. Conventional technologies to assess virus transduction either lack spatial or temporal information. Here, spatiotemporal mapping of virus transduction in living retinal tissue is introduced, levering fluorescence imaging and machine learning‐based ...
Teresa S. Rogler +11 more
wiley +1 more source
Human Mutation, Volume 2026, Issue 1, 2026.Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous bone disorder, with more than 20 genes contributing to OI development. Previously, we identified WNT1 c.620G > A (p.Arg207His) mutation among Chinese patients with autosomal recessive OI (AR‐OI).
Shan Li +10 more
wiley +1 more source
Regenerative medicine - Advanced medical therapy products - Value and cost-effectiveness
, 2022 ATMPs hold meaningful promise for patients with chronic diseases with significant medical unmet needs. Some have shown potential to treat many diseases that are partially or completely caused by genetic mutations. For example, Luxturna® is the first line
Ergun Oksuz (9222161)
core +1 more source
Clinical Ophthalmology, 2021 Swetha Davuluri,1 Nicolas A Yannuzzi,1 Amy Kloosterboer,1 Ajay E Kuriyan,2 Jayanth Sridhar1 1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Retina Service, Mid ...
Davuluri S +4 more
doaj
Harnessing Photo‐Energy Conversion in Nanomaterials for Precision Theranostics
Advanced Materials, Volume 37, Issue 48, December 3, 2025.Harnessing photo‐energy conversion in nanomaterials enables precision theranostics through light‐driven mechanisms such as photoluminescence, photothermal, photoelectric, photoacoustic, photo‐triggered surface‐enhanced Raman scattering (SERS), and photodynamic processes. This review explores six fundamental principles of photo‐energy conversion, recent
Jingyu Shi +4 more
wiley +1 more source