Gene therapy for ultrarare diseases: a geneticist’s perspective

Journal of Biomedical Science, Journal Year: 2024, Volume and Issue: 31(1)

Published: Aug. 13, 2024

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

Language: Английский

Looking to the Future of Viral Vectors in Ocular Gene Therapy: Clinical Review

Biomedicines, Journal Year: 2025, Volume and Issue: 13(2), P. 365 - 365

Published: Feb. 5, 2025

Eye diseases can significantly affect the quality of life patients due to decreased visual acuity. Although modern ophthalmological diagnostic methods exist, some system are asymptomatic in early stages. Most seek advice from an ophthalmologist as a result rapidly progressive manifestation symptoms. A number inherited and acquired eye have only supportive treatment without eliminating etiologic factor. promising solution this problem may be gene therapy, which has proven efficacy safety shown clinical studies. By directly altering or replacing defective genes, therapeutic approach will stop well reverse progression diseases. This review examines concept therapy its application field ocular pathologies, emphasizing most recent scientific advances their potential impacts on function status.

Language: Английский

Lipopeptide-mediated Cas9 RNP delivery: a promising broad therapeutic strategy for safely remove deep-intronic variants in ABCA4.

Molecular Therapy — Nucleic Acids, Journal Year: 2024, Volume and Issue: 35(4), P. 102345 - 102345

Published: Sept. 27, 2024

Language: Английский