The role of recombinant AAV in precise genome editing
The replication-defective, non-pathogenic, nearly ubiquitous single-stranded adeno-
associated viruses (AAVs) have gained importance since their discovery about 50 years …
associated viruses (AAVs) have gained importance since their discovery about 50 years …
Lipid-nanoparticle-based delivery of CRISPR/Cas9 genome-editing components
P Kazemian, SY Yu, SB Thomson… - Molecular …, 2022 - ACS Publications
Gene editing mediated by CRISPR/Cas9 systems is due to become a beneficial therapeutic
option for treating genetic diseases and some cancers. However, there are challenges in …
option for treating genetic diseases and some cancers. However, there are challenges in …
RNA interference (RNAi)-based therapeutics for treatment of rare neurologic diseases
ND Germain, WK Chung, PD Sarmiere - Molecular Aspects of Medicine, 2023 - Elsevier
Advances in genome sequencing have greatly facilitated the identification of genomic
variants underlying rare neurodevelopmental and neurodegenerative disorders …
variants underlying rare neurodevelopmental and neurodegenerative disorders …
Advancing translational science education
JM Faupel‐Badger, AL Vogel… - Clinical and …, 2022 - Wiley Online Library
In this communication, the authors offer considerations for how the scientific community can
capitalize on decades of translational science advances and experiential knowledge to …
capitalize on decades of translational science advances and experiential knowledge to …
Model‐Informed Approaches and Innovative Clinical Trial Design for Adeno‐Associated Viral Vector‐Based Gene Therapy Product Development: A White Paper
A Mitra, MA Ahmed, R Krishna, K Sun… - Clinical …, 2023 - Wiley Online Library
The promise of viral vector‐based gene therapy (GT) as a transformative paradigm for
treating severely debilitating and life‐threatening diseases is slowly coming to fruition with …
treating severely debilitating and life‐threatening diseases is slowly coming to fruition with …
Antisense and gene therapy options for Duchenne muscular dystrophy arising from mutations in the N-terminal hotspot
H Wilton-Clark, T Yokota - Genes, 2022 - mdpi.com
Duchenne muscular dystrophy (DMD) is a fatal genetic disease affecting children that is
caused by a mutation in the gene encoding for dystrophin. In the absence of functional …
caused by a mutation in the gene encoding for dystrophin. In the absence of functional …
Global regulatory and public health initiatives to advance pediatric drug development for rare diseases
C Epps, R Bax, A Croker, D Green, A Gropman… - … Innovation & Regulatory …, 2022 - Springer
The literature thoroughly describes the challenges of pediatric drug development for rare
diseases. This includes (1) generating interest from sponsors,(2) small numbers of children …
diseases. This includes (1) generating interest from sponsors,(2) small numbers of children …
Next-generation biological vector platforms for in vivo delivery of genome editing agents
D Leclerc, MD Siroky, SM Miller - Current Opinion in Biotechnology, 2024 - Elsevier
Highlights•CRISPR-based genome editing tools offer promise for treating genetic
disease.•In vivo CRISPR therapeutics require potent and safe delivery vectors.•Biological …
disease.•In vivo CRISPR therapeutics require potent and safe delivery vectors.•Biological …
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus
EL Lyons, D Watson, MS Alodadi, SJ Haugabook… - BMC genomics, 2023 - Springer
Abstract Background Approximately 4–8% of the world suffers from a rare disease. Rare
diseases are often difficult to diagnose, and many do not have approved therapies. Genetic …
diseases are often difficult to diagnose, and many do not have approved therapies. Genetic …
Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National …
RM Lomash, O Shchelochkov, RJ Chandler… - Human Gene …, 2023 - liebertpub.com
Orphan drug designation (ODD) is an important program intended to facilitate the
development of orphan drugs in the United States. An orphan drug benefiting pediatric …
development of orphan drugs in the United States. An orphan drug benefiting pediatric …