First and Last Name/s of Presenters

Lauren CoteFollow

Mentor/s

Dr. Hanely

Participation Type

Paper Talk

Abstract

Duchenne’s muscular Dystrophy (DMD) is a neuromuscular degenerative disorder that causes skeletal muscle degeneration in young boys and continues until the succumb cardiac to cardiac or respiratory failure around 30 years of age. DMD is caused by a mutation in the dystrophin gene that leads to no transcription and translation of the dystrophin protein, an important cytoskeletal protein that stabilizes the muscle fibers during contractions. The two current treatments for this disease are steroid treatments to slow down the muscle degeneration and morpholino antisense oligomers that attempt to restore the dystrophin protein in the muscle fibers but is normally not successful. CRISPR-Cas9 is being heavily researched as a potential treatment for DMD. This review aims to argue if CRISPR-Cas9 gene therapy is ready to be implemented in clinical practice to treat children and young adults with DMD. The current challenges that will be discussed with this treatment are the risk of dystrophin restoration being non-uniform and not significant enough to regenerate muscle fibers, off-target editing, and an immune response to the Cas9 enzyme. Some positive outlooks for CRISPR-Cas9 as a potential gene therapy are that there are other studies that demonstrate regeneration of muscle fibers in the heart and diaphragm, making delivery more efficient and safer by altering either the bacteria bound to the Cas9 enzyme, the delivery system, or the genome of the model organism so it best matches the human genome. Although there is a lot of potential for CRISPR to become a novel treatment for DMD, there is not enough research to support CRISPR-Cas9 moving forward in clinical research, as the risks and challenges associated with the gene therapy are still too high.

College and Major available

Biology

Academic Level

Undergraduate student

Location

Session 2: Digital Commons & Martire 251

Start Day/Time

4-23-2025 2:00 PM

End Day/Time

4-23-2025 3:15 AM

Students' Information

Lauren Cote, Biology major, chemistry minor, Honors student, 2025

Creative Commons License

Creative Commons Attribution-Noncommercial 4.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial 4.0 License

DMD Presentation[-Lauren Cote.pptx (9533 kB)
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Apr 23rd, 2:00 PM Apr 23rd, 3:15 AM

Pursuing CRISPR-Cas9 as a Future Treatment for Duchenne's Muscular Dystrophy

Session 2: Digital Commons & Martire 251

Duchenne’s muscular Dystrophy (DMD) is a neuromuscular degenerative disorder that causes skeletal muscle degeneration in young boys and continues until the succumb cardiac to cardiac or respiratory failure around 30 years of age. DMD is caused by a mutation in the dystrophin gene that leads to no transcription and translation of the dystrophin protein, an important cytoskeletal protein that stabilizes the muscle fibers during contractions. The two current treatments for this disease are steroid treatments to slow down the muscle degeneration and morpholino antisense oligomers that attempt to restore the dystrophin protein in the muscle fibers but is normally not successful. CRISPR-Cas9 is being heavily researched as a potential treatment for DMD. This review aims to argue if CRISPR-Cas9 gene therapy is ready to be implemented in clinical practice to treat children and young adults with DMD. The current challenges that will be discussed with this treatment are the risk of dystrophin restoration being non-uniform and not significant enough to regenerate muscle fibers, off-target editing, and an immune response to the Cas9 enzyme. Some positive outlooks for CRISPR-Cas9 as a potential gene therapy are that there are other studies that demonstrate regeneration of muscle fibers in the heart and diaphragm, making delivery more efficient and safer by altering either the bacteria bound to the Cas9 enzyme, the delivery system, or the genome of the model organism so it best matches the human genome. Although there is a lot of potential for CRISPR to become a novel treatment for DMD, there is not enough research to support CRISPR-Cas9 moving forward in clinical research, as the risks and challenges associated with the gene therapy are still too high.

 

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