Journal of Pharmacology and Therapeutic Research

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Short Communication - Journal of Pharmacology and Therapeutic Research (2025) Volume 9, Issue 1

CRISPR-Cas9 and Beyond: The Role of Genome Editing in Molecular Medicine and Rare Disease Therapy

Miguel Rousseau *

Department of Pharmacology, National Autonomous University of Mexico, Mexico

*Corresponding Author:
Miguel Rousseau
Department of Pharmacology, National Autonomous University of Mexico, Mexico
E-mail: m.rousseau@unam.mx

Received: 1-Jan-2025, Manuscript No. aajptr-25-168696; Editor assigned: 4-Jan-2025, PreQC No. aajptr-25-168696 (PQ) Reviewed:18-Jan-2025, QC No. aajptr-25-168696 Revised:25-Jan-2025, Manuscript No. aajptr-25-168696; Published:30-Jan-2025, DOI: 10.35841/ aajptr - 9.1.183

Citation: Rousseau M. CRISPR-Cas9 and beyond: The role of genome editing in molecular medicine and rare disease therapy. J Pharmacol Ther Res. 2025;9(1):183

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Introduction

The advent of genome editing has revolutionized the field of molecular medicine, offering unprecedented possibilities for treating genetic diseases at their root cause. Among the tools available, CRISPR-Cas9 stands out due to its simplicity, precision, and versatility. Since its adaptation for gene editing in 2012, CRISPR-Cas9 has rapidly transitioned from a laboratory tool to a potential therapeutic platform. Its ability to modify specific DNA sequences has made it particularly valuable in addressing rare genetic disorders, many of which lack effective treatments [1].

CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is part of a bacterial defense system that uses the Cas9 endonuclease to cut foreign DNA. In therapeutic applications, scientists program a guide RNA to lead Cas9 to a specific sequence in the genome, where it introduces a double-stranded break. This break is then repaired by the cell's natural DNA repair mechanisms, either through non-homologous end joining (NHEJ) or homology-directed repair (HDR), allowing for gene disruption, correction, or insertion [2].

One of the most remarkable achievements of CRISPR-Cas9 has been its application in monogenic disorders—diseases caused by mutations in a single gene. Conditions such as sickle cell disease, beta-thalassemia, and Leber congenital amaurosis have been the focus of clinical trials using ex vivo or in vivo genome editing approaches. In ex vivo therapies, hematopoietic stem cells are harvested from a patient, edited outside the body, and then reinfused. This strategy has shown promise in restoring normal hemoglobin production in sickle cell and thalassemia patients [3].

For diseases affecting non-hematopoietic tissues, in vivo delivery systems are being developed, including lipid nanoparticles and viral vectors like adeno-associated virus (AAV). These vectors can carry CRISPR components directly to the target tissues, such as the liver or retina. For example, the EDIT-101 trial targets a mutation in the CEP290 gene associated with a form of inherited blindness, using AAV to deliver CRISPR-Cas9 directly to the eye [4].

Despite its success, CRISPR-Cas9 is not without limitations. Off-target effects, where unintended sections of the genome are cut, raise safety concerns. Efforts to improve the fidelity of Cas9 enzymes and develop alternative enzymes like Cas12a and Cas13 are ongoing. These new variants offer different cutting mechanisms and may provide better specificity and lower immunogenicity. Additionally, base editors and prime editors have emerged as refined tools that can make precise changes to single nucleotides without causing double-stranded breaks [5].

Conclusion

In conclusion, CRISPR-Cas9 and its evolving derivatives are ushering in a new era of molecular medicine. By allowing precise, customizable, and increasingly safe genome modifications, these tools hold immense promise for the treatment of rare and previously untreatable genetic diseases. As scientific advancements continue, the integration of genome editing into mainstream healthcare could transform therapeutic landscapes and redefine the future of personalized medicine.

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