Authors :
Mukesh Kumari
Volume/Issue :
Volume 11 - 2026, Issue 3 - March
Google Scholar :
https://tinyurl.com/vnr7mrxx
Scribd :
https://tinyurl.com/2nffhksy
DOI :
https://doi.org/10.38124/ijisrt/26mar1591
Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.
Abstract :
Rare diseases, affecting millions globally despite their individual rarity, represent a major unmet medical
challenge due to limited therapeutic options. Advances in gene-editing technologies—particularly CRISPR-Cas systems,
base editing, and prime editing—have revolutionized the treatment paradigm from symptomatic management to potential
curative interventions. This research paper explores the mechanistic basis, therapeutic applications, clinical progress,
quantitative insights, and future directions of gene editing in rare disease management. It highlights emerging paradigms
such as personalized gene therapy, in vivo editing, and RNA editing, while addressing ethical, regulatory, and economic
challenges. The paper concludes that gene editing holds transformative potential but requires advancements in safety,
accessibility, and scalability for widespread clinical adoption.
Keywords :
Gene Editing, CRISPR-Cas9, Rare Diseases, Gene Therapy, Personalized Medicine, Base Editing, Prime Editing, Genomic Medicine.
References :
- Israr J., Kumar A. (2025). CRISPR-Cas systems for rare diseases. Prog Mol Biol Transl Sci.
- Badwal A.K., Singh S. (2024). CRISPR clinical trials in rare diseases. Int J Biol Macromol.
- Yale School of Medicine (2025). Future of gene editing treatments.
- Frontiers (2025). Base editing for rare disorders.
- Zhou L. (2024). Gene editing in monogenic disorders.
- Frontiers Medicine (2024). CRISPR clinical trials and challenges.
- GREGoR Consortium (2024). Genomics of rare diseases.
- Aledhari M., Rahouti M. (2024). Gene and RNA editing technologies.
- WSJ Report (2025). Personalized CRISPR therapy case.
- Washington Post (2026). Challenges in gene therapy commercialization.
- Bharti, A. et al. (2025). Therapeutic applications of CRISPR-Cas9 gene editing.
- Urnov, F. et al. (2025). Advancing gene-editing platforms for rare diseases.
- IGI (2024). CRISPR Clinical Trials Update.
- Kaktus Bio (2025). Panorama of CRISPR Gene Editing Applications.
- Nature Medicine (2023–2025). CRISPR therapeutics reviews
Rare diseases, affecting millions globally despite their individual rarity, represent a major unmet medical
challenge due to limited therapeutic options. Advances in gene-editing technologies—particularly CRISPR-Cas systems,
base editing, and prime editing—have revolutionized the treatment paradigm from symptomatic management to potential
curative interventions. This research paper explores the mechanistic basis, therapeutic applications, clinical progress,
quantitative insights, and future directions of gene editing in rare disease management. It highlights emerging paradigms
such as personalized gene therapy, in vivo editing, and RNA editing, while addressing ethical, regulatory, and economic
challenges. The paper concludes that gene editing holds transformative potential but requires advancements in safety,
accessibility, and scalability for widespread clinical adoption.
Keywords :
Gene Editing, CRISPR-Cas9, Rare Diseases, Gene Therapy, Personalized Medicine, Base Editing, Prime Editing, Genomic Medicine.
