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Gene-editing techniques such as CRISPR-Cas are improving rapidly, opening the path toward their more frequent therapeutic use. Yet, no matter how good these techniques become, off-target errors are invariable. Though individual errors are rare, their accrual in a population can encompass a significant portion of the edited cells. Therefore, editing systems must be optimized to minimize rates of structural variation. Therapeutically, even a minuscule number of errors and off-target effects represents a significant potential risk to patients. Traditional methods of measuring these off-target effects and errors have often relied on pooled DNA combined with NGS and PCR. Unfortunately, these techniques are not suitable for quantitating the low prevalence, random, variable, and complex structural variation characteristics.

In this GEN webinar, our distinguished guest, Dr. Christopher Tompkins, will discuss a novel cytogentic method for visualizing structural chromosomal rearrangements, inversions, and translocations using directional Genomic Hybridization™ (dGH). This technique combines a bioinformatics-driven design of unique single-stranded synthetic probes with strand-specific hybridization strategies and can detect DNA sequence, location, and orientation in a single test. Dr. Tompkins will also discuss the importance of measurements of structural variations for gene editing and gene therapy and how to utilize genomic structural analysis as a development tool for engineered gene therapies. Finally, Dr. Tompkins will review the impact of these effects in human gene therapy products incorporating human genome editing of edited cell populations.


A live Q&A followed the presentation, offering a chance to pose questions to our expert panelist.

Christopher Tompkins, PhD
Christopher Tompkins, PhD
Chief Technical Officer

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