Author(s) :

Isabelle Kirsten Sophia Hibbert.

Volume/Issue :

Abstract :

Vascular anomalies, which include both vascular tumors and malformations, can result in significant complications such as chronic pain, physical disfigurement, and impaired joint function. Many vascular anomalies are often caused by mutations in the TEK gene, which lead to the overactivation of the PI3K AKT-mTOR signaling pathway. This dysregulation contributes to the formation of weak, malformed vessels. Current treatments, such as sclerotherapy and surgical intervention, are not curative and are associated with a risk of recurrence. Given the limitations of current treatments, there is growing interest in next-generation regenerative approaches. The synergistic integration of gene-editing technology such as CRISPR-Cas9 and tissue engineering holds promise. CRISPR-Cas9 provides the potential to correct pathogenic mutations at the genomic level by targeting specific DNA sequences within the TEK gene. Additionally, tissue engineering could enable the replacement of damaged blood vessels using bioengineered scaffolds and stem cell derived vascular tissues, potentially reducing the risk of immune rejection. Despite these promising developments, several challenges remain, including surgical risks, the possibility of off-target gene editing and ongoing ethical concerns. This paper reviews and synthesizes current literature on CRISPR-Cas9 and tissue engineering, with the aim of exploring their combined potential as a novel, personalized therapeutic strategy for treating vascular anomalies. By identifying both the opportunities and limitations of this approach, this paper contributes to the growing body of knowledge guiding the development of mutation-targeted, regenerative treatments that address the root causes of vascular disease.