Poster Session 2, 11:30 AM - 12:15 PM: Campus Center Auditorium [A22]

CRISPR Gene Editing: The Pinnacle of Individualized Medicine

Presenter: Regan Mary Kelly

Faculty Sponsor: Reena Randhir

School: Springfield Technical Community College

Research Area: Biomedical Engineering

ABSTRACT

CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats), the gene-editing tool has been at the leading-edge of biomedical advancement since its adaption for gene editing in 2012. This study is one of the earliest examples of personalized in vivo CRISPR based therapy. A recent progression in applying CRISPR technology to a human subject has opened the possibility of integrating gene editing tool kits into medical treatment and providing precision-based therapeutic approaches. The research methodology is a review of a published case-study from the New England Journal of Medicine. This powerful and precise gene editing system that can be used to target and modify disease-causing genetic variants within an individual's genome, with the potential to correct underlying genetic disorders rather than only manage symptoms.
 The subject of this study is an infant diagnosed with a rare Carbamoyl-Phosphate Synthetase 1 Deficiency, a mitochondrial liver enzyme CPS1, that initiates the urea cycle by converting toxic ammonia into a form that can be safely excreted. This disorder is associated with high mortality rate in early infancy. The mechanism of the treatment is a customized lipid nanoparticle- delivered in vivo base editing therapy. Post treatment, the patient was able to receive an increased amount of dietary protein and a reduced dose of a nitrogen-scavenger medication to half of the starting dose. No adverse effects have been observed thus far, though further follow up is warranted to access long-term safety and durability of gene expression. Recent research including  the FDA-approved CRISPR-based treatments for inherited blood disorders such as Sickle Cell anemia and clinical trials using systemic delivery platforms further support the clinical potential of this technology. CRISPR-based base editing and targeted delivery systems place gene therapy at the forefront of individualized medicine.


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