Description
Thorkild Terkelsen, MD, will discuss the diagnostic application of CRISPR activation to study the functional effect of splice-altering variants in easily accessible cells from individuals.
Overview of Presentation:
- Splice-altering variants are a frequent cause of hereditary disorders, but their impact is difficult to predict.
- RNA diagnostics of clinical samples can contribute to the classification of splice-altering variants.
- One in five human disease genes are not expressed in easily accessible cells and cannot be analyzed in this way.
- Using CRISPR activation to induce expression of the gene of interest in skin fibroblasts, we show proof of principle of a diagnostic tool to study such variants.
- CRISPR activation is rapid and easy to perform.
