The Potential and Challenges of Gene Editing Technology in the Treatment of Rare Genetic Diseases

Abstract

Rare genetic disorders represent serious health challenges for patients with few treatment options available through traditional methods. New gene editing technology, specifically CRISPR-Cas9, has the ability to revolutionize the treatment of these disorders by providing options for precision therapy aimed at specific single gene mutations. This review examines the immense possibilities gene editing technology holds for the treatment of rare genetic disorders and the advantages of precision target discovery, one-time potential cure therapy, and individualized therapies. Documented successful case studies exist for CPS1 deficiency, beta-thalassemia and sickle cell disease. However, the technology is limited by many restraining factors as well, including off-target effects, delivery effectiveness, long-term safety and efficacy issues, ethical dilemmas, and regulatory problems that remain to be addressed. Future promises of gene editing technology to aid patients with rare diseases involve the continued development of more precise editing tools, advancement in delivery methodology, long-term evaluative studies on safety and efficacy of new technology, as well as ethical and regulatory environments designed to test and refresh the concepts of safety, efficacy and access to patients impacted by technology. Gene editing technology holds the promise of new hope for patients afflicted with rare diseases, but the advent of new technology must take into consideration the pluses and minuses of its potential use.