Samantha L. Ginn

Culture media alter retinal organoid physiology promoting AAV transduction and retinal ganglion cell survival

Michelle O’Hara-Wright, Benjamin Y. Lim, Melissa Mangala, Vivienne Kaiser et autres

Human iPSC-derived retinal organoids offer a human-relevant platform for inherited retinal disease (IRD) gene therapy, yet robust AAV transduction in vitro remains challenging. Here we show that culture in BrainPhys™ (BP) medium markedly enhances AAV-mediated gene delivery. Brief BP exposure during the …

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P1.184: Establishing liver and kidney machine perfusion platforms for translational research in paediatric organ transplantation.

Zahra Lotfibakalani, Samantha L. Ginn, Mark Greaves, Alex Bradley et autres

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Functional editing of the OTC locus by targeted integration with phenotype correction and restoration of endogenous expression patterns

Samantha L. Ginn, Fatemeh Doroudian, Sharntie Christina, Otilia P.Y. Chan et autres

Here, we report highly efficient functional repair of the ornithine transcarbamylase (OTC) locus in mutant mouse and human hepatocytes in vivo using a dual adeno-associated virus system delivering CRISPR-Cas9 editing reagents and a promoterless donor for targeted integration. The approach was mutation …

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Targeted editing of the 21-hydroxylase locus confers durable therapeutic effect in a murine model of congenital adrenal hyperplasia

Lara E. Graves, Lakshmy Viswanath, Eva B. van Dijk, Erhua Zhu et autres

Contemporary treatment for congenital adrenal hyperplasia is lifesaving; however, long-term deleterious effects from the disease and complications from the inadequacy of available treatment remain problematic. Locus-specific correction of the defective 21-hydroxylase gene through genomic editing has the potential to address this unmet …

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Highly Efficient Functional Editing of the Native Ornithine Transcarbamylase Locus by Targeted Integration with Phenotype Correction and Restoration of Physiological Patterns of Gene Expression

Samantha L. Ginn, Fatemeh Doroudian, Sharntie Christina, On Ying A. Chan et autres

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In vivo precision base editing to rescue mouse models of disease

Aaron Schindeler, Christal Au-Yeung, Samantha L. Ginn, Alexandra K O’Donohue

mouse disease models-assessing editing efficiency, phenotypic rescue, and therapeutic potential across 66 studies. A key challenge in base editing is optimizing delivery. Most studies rely on split-intein dual adeno-associated virus (AAV) vectors due to BEs exceeding AAV packaging limits, though lipid nanoparticle …

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Towards durable genomic editing for the treatment of congenital adrenal hyperplasia

Lara E. Graves, Lakshmy Viswanath, Dijk Eva van, Samantha L. Ginn et autres

The evolving landscape of NF gene therapy: Hurdles and opportunities

Alexandra K O’Donohue, Samantha L. Ginn, Gaétan Burgio, Yemima Berman et autres

Neurofibromatosis type 1 (NF1)- and NF2-related schwannomatosis are rare autosomal dominant monogenic disorders characterized by a predisposition for nerve-associated tumors. Current treatments focus on symptomatic management, but advancements in the gene therapy field present unique opportunities to treat the genetic underpinnings and …

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Gene therapy clinical trials worldwide to 2023—an update

Samantha L. Ginn, Mawj Mandwie, Ian E. Alexander, Michael Edelstein et autres

To date, 3,900 gene therapy clinical trials have been completed, are ongoing or have been approved worldwide. Our database brings together global information on gene therapy clinical activity from trial databases, official agency sources, published literature, conference presentations and posters kindly provided …

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Genome editing in the adrenal gland: a novel strategy for treating congenital adrenal hyperplasia

Eva B. van Dijk, Samantha L. Ginn, Ian E. Alexander, Lara E. Graves

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency leads to high morbidity and mortality, despite the availability of life-saving corticosteroid replacement therapy.Gene therapy represents a promising potential treatment for monogenic disorders such as congenital adrenal hyperplasia, overcoming the limitations of corticosteroid replacement approaches.Adeno-associated …

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AAV-delivered hepato-adrenal cooperativity in steroidogenesis: Implications for gene therapy for congenital adrenal hyperplasia

Lara E. Graves, Eva B. van Dijk, Erhua Zhu, Sundar Rao Koyyalamudi et autres

Despite the availability of life-saving corticosteroids for 70 years, treatment for adrenal insufficiency is not able to recapitulate physiological diurnal cortisol secretion and results in numerous complications. Gene therapy is an attractive possibility for monogenic adrenocortical disorders such as congenital adrenal hyperplasia; …

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Novel AAV variants with improved tropism for human Schwann cells

Matthieu Drouyer, Tak‐Ho Chu, Elodie Labit, Florencia Haase et autres

models of hSCs. These novel AAV capsids will serve as valuable research tools, forming the basis for therapeutic solutions for both SC-related disorders or peripheral nervous system injury.

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