Strengthening health systems for access to gene therapy in rare genetic disorders

Bhatia, Sonal; Le Cam, Yann; Carrion, Juan; Diamond, Lauren; Fennessy, Paul; Gassman, Safiyya; Gutzwiller, Felix; Kagan, Stephen; Pankevich, Diana; Young Maloney, Jennifer; Mahadev, Nitin; Schulz, Martin; Wong-Rieger, Durhane; Morgese, Paolo

doi:10.1016/j.omtm.2024.101220

Molecular Therapy - Methods & Clinical Development

2024

DOI: 10.1016/j.omtm.2024.101220

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Strengthening health systems for access to gene therapy in rare genetic disorders

Sonal Bhatia,

Yann Le Cam,

Juan Carrion

et al.

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2024

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Gene therapy for ultrarare diseases: a geneticist’s perspective

Hwu

2024

J Biomed Sci

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Gene therapy has made considerable strides in recent years. More than 4000 protein-coding genes have been implicated in more than 6000 genetic diseases; next-generation sequencing has dramatically revolutionized the diagnosis of genetic diseases. Most genetic diseases are considered very rare or ultrarare, defined here as having fewer than 1:100,000 cases, but only one of the 12 approved gene therapies (excluding RNA therapies) targets an ultrarare disease. This article explores three gene supplementation therapy approaches suitable for various rare genetic diseases: lentiviral vector-modified autologous CD34+ hematopoietic stem cell transplantation, systemic delivery of adeno-associated virus (AAV) vectors to the liver, and local AAV delivery to the cerebrospinal fluid and brain. Together with RNA therapies, we propose a potential business model for these gene therapies.

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Gene therapy for ultrarare diseases: a geneticist’s perspective

Hwu

2024

J Biomed Sci

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Advances and Challenges in Gene Therapy for Inherited Retinal Dystrophies: A Comprehensive Review

Jain,

Daigavane

2024

Cureus

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Inherited retinal dystrophies (IRDs) are a diverse group of genetic disorders leading to progressive vision loss due to the degeneration of retinal photoreceptors. Gene therapy has emerged as a promising approach to address the underlying genetic causes of IRDs, offering the potential for restoring vision and halting disease progression. This review provides a comprehensive overview of gene therapy innovations for IRDs, focusing on the mechanisms, recent advancements, and ongoing challenges. We discuss the fundamental principles of gene therapy, including the use of viral and non-viral vectors, and highlight key developments such as the approval of Luxturna for RPE65-mediated retinal dystrophy and the application of gene editing technologies like CRISPR/Cas9. Despite these advancements, significant challenges remain, including vector delivery, long-term safety, and variable patient responses. This review also explores the future directions of gene therapy, emphasizing the need for further research to address these challenges and enhance therapeutic efficacy. By examining the current state of gene therapy for IRDs, this review aims to provide valuable insights into the potential for these treatments to transform the management of retinal diseases and improve the quality of life for affected individuals.

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Strengthening health systems for access to gene therapy in rare genetic disorders

Cited by 2 publications

References 6 publications

Gene therapy for ultrarare diseases: a geneticist’s perspective

Gene therapy for ultrarare diseases: a geneticist’s perspective

Advances and Challenges in Gene Therapy for Inherited Retinal Dystrophies: A Comprehensive Review

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