Cell and Gene Therapy
In many patients, accurate detection and characterization of SVs are crucial for understanding disease etiology, developing targeted therapies, and designing effective gene delivery vectors. In all patients, ensuring the safety of therapeutic interventions requires confirming cells and vectors have no unanticipated structural variations prior to administration, as well as demonstrating no undesirable variants are created after treatment.
Disease understanding and therapeutic intervention
Genomic SVs play a pivotal role in the genetic basis of various diseases, including cancer and genetic disorders so detecting their presence is critical. Pinpointing SVs allows for the identification of disease-associated genes and pathways, enabling the development of targeted therapies. For instance, identifying SVs in complex immune phenotypes can guide the selection of appropriate targeted therapies, enhancing treatment efficacy and patient outcomes1. Understanding the genomic landscape of SVs is critical for precision medicine approaches, where tailored therapeutic interventions are designed based on an individual’s unique genomic profile.
Gene therapy and vector design
In gene therapy, the delivery of therapeutic genes into target cells is fundamental. SVs can provide information about the specific mutations or structural changes that need to be corrected or replaced using gene editing tools to restore normal or enhanced gene function. Precise vector design is essential to ensure correct integration and expression of therapeutic genes. Genome mapping tools assist in identifying potential integration sites and assessing the impact of SVs on vector integration into the correct site and elsewhere, aiding in the selection of optimal vector designs for efficient and safe gene delivery2.
Safety
Ensuring the safety of gene therapy and cell-based therapies is of paramount importance for patient safety and extension of these technologies into additional disease areas. Genomic SVs can create potential adverse effects that may accompany these therapies. For instance, unintended insertions of vector sequences or integration into critical genomic regions can lead to genotoxicity or oncogenic events3. Comprehensive genomic characterization using high-resolution mapping tools facilitates the identification of potential risks associated with SVs, enabling proactive safety measures and mitigating risks in the development and implementation of therapies.
- Similuk MN, et al. Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. J Allergy Clin Immunol. 2022; 150: 947-954. doi: 10.1016/j.jaci.2022.06.009. .
- Sasu BJ, et al. Detection of chromosomal alteration after infusion of gene-edited allogeneic CAR T cells. Mol Ther. 2023; 31: 676-685. doi: 10.1016/j.ymthe.2022.12.004.
- Kitano Y, et al. Generation of hypoimmunogenic induced pluripotent stem cells by CRISPR-Cas9 system and detailed evaluation for clinical application. Mol Ther Methods Clin Dev. 2022; 26: 15-25. doi: 10.1016/j.omtm.2022.05.010.
Our Products
The state-of-the-art OhmX Platform uses electronic nano-detectors to deliver the highest resolution for whole genome structural variant analysis. You can now perform whole genome analysis of SVs down to 300bp in size—enabling insights into previously undetectable DNA variations.
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