Inherited forms of blindness and deafness are highly prevalent and severe conditions that significantly impact the lives of millions of people worldwide. The lack of therapeutic options for these conditions poses a major socioeconomic burden. Over the last decades, gene therapy has proven to be a life changing treatment for hereditary and acquired forms of diseases, and extensive preclinical investigation in animal models of both retinal and inner ear disorders has highlighted promising translational opportunities for these disorders too. This led to dozens of clinical trials investigating the efficiency of gene therapy-based approaches, with some of the products for retinal conditions successfully reaching phase III of development or even market authorization. However, challenges remain for the use of gene therapy, which are related to both the features of the delivery vehicles currently available and characteristics of the retinal and inner ear disorders targeted. Therefore, further developments in gene therapy platforms' design, including exploitation of novel technologies such as genome editing, RNA-targeted therapies, and optogenetics, are actively ongoing, driving the field forward. In this study, we review the ongoing applications and achievements of gene therapy for treatment of inherited forms of blindness and deafness as well as the developments that are being pursued in the field to overcome the current limitations.
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http://dx.doi.org/10.1089/hum.2023.126 | DOI Listing |
Headache
December 2024
Headache Unit, Neurology Department, Fundación Jiménez Díaz University Hospital, Madrid, Spain.
Objective: To evaluate the effectiveness of first switching between monoclonal antibodies (mAbs) targeting calcitonin gene-related peptide (CGRP) or its receptor in the treatment of migraine.
Background: Although mAbs targeting CGRP or its receptor have emerged as a leading treatment for migraine prevention, a proportion of patients do not respond. While switching between these antibodies is a common clinical practice in such cases, the effectiveness remains a subject of study.
Regen Med
December 2024
Medical Center for Molecular Biology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Latest developments in the field of stem cell research and regenerative medicine compiled from publicly available information and press releases from non-academic institutions in October 2024.
View Article and Find Full Text PDFBJOG
December 2024
Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Objective: To explore the association between smoking, genetic susceptibility and early menopause (EM) and clarify the potential mechanisms underlying this relationship.
Design: An observational and Transcriptome-wide association analysis (TWAS) study.
Setting: UK Biobank and public summary statistics.
Physiol Plant
December 2024
Laboratory of Tumor Targeted and Immune Therapy, Clinical Research Center for Breast, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University and Collaborative Innovation Center for Biotherapy, Chengdu, China.
As an important source of pollution in the papermaking process, the presence of lignin in poplar can seriously affect the quality and process of pulping. During lignin synthesis, Caffeoyl-CoA-O methyltransferase (CCoAOMT), as a specialized catalytic transferase, can effectively regulate the methylation of caffeoyl-coenzyme A (CCoA) to feruloyl-coenzyme A. Targeting CCoAOMT, this study investigated the substrate recognition mechanism and the possible reaction mechanism, the key residues of lignin binding were mutated and the lignin content was validated by deep convolutional neural-network model based on genome-wide prediction (DCNGP).
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Diabetes Center, Ohta Nishinouchi Hospital, Koriyama, Fukushima, Japan.
Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder, accompanied by multiple endocrine neoplasms of the parathyroid, pancreas, pituitary, and other neoplasms in the adrenal glands. However, in some cases, patients clinically diagnosed with MEN1 may be genotype-negative.
Case Presentation: A 56-year-old female was diagnosed with MEN1 based on a macroprolactinoma (19 mm in diameter), primary hyperparathyroidism, and a cortisol-producing adrenal adenoma, without a family history.
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