Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study

02 January 25 Articles ، Linda Pax Lowes ، Kevin Flanigan DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، AntisenseOligonucleotides ، دیستروفی_عضلانی_دوشن ، درمان_ژنی ، الیگونوکلئوتید_آنتی_سنس ، Golodirsen ، Casimersen ، پرش_اگزون ، Dystrophin ، ClinicalTrial ، کازیمیرسن ، گولودیرسن
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study
1. Introduction Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder predominantly affecting boys, with an incidence of approximately 1 in 5,000 male births. It is caused by mutations in the DMD gene that lead to disrupted production of dystrophin, a protein essential for muscle stability. Exon skipping is a therapeutic strategy that restores the reading frame of the mutated gene to enable dystrophin production. This study focuses on applying …
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Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

15 September 24 Articles ، Annemieke Aartsma-Rus GeneTherapy ، ExonSkipping ، ASO ، PersonalizedMedicine ، NOf1Therapy ، آنتی‌سنس_الیگو‌نوکلئوتید ، پریدن_اکسون ، درمان_ژنی ، پزشکی_شخصی_سازی_شده ، درمان_برای_یک_فرد
Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides
    Personal take on this article: This paper outlines consensus guidelines for the design and testing of antisense oligonucleotides (ASOs) specifically tailored to individual patients, known as N-of-1 therapies. ASOs are short strands of synthetic DNA that can modify gene expression by altering pre-mRNA splicing, offering potential treatments for various genetic diseases. The paper highlights the importance of designing ASOs that skip certain exons to restore protein function, which …
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