Unprecedented gene-editing treatment administered to infant carrying unusual genetic condition using tailored therapy
Article:
A New Promise for Rare Genetic Disorders: The Success of Customized CRISPR Gene Editing
In an exciting breakthrough, a baby in the US has become one of the first individuals with a rare genetic disorder to receive a customized CRISPR gene-editing therapy. This cutting-edge treatment, aimed at correcting errors in DNA, was used to address the severe carbamoyl-phosphate synthetase 1 deficiency (CPS1) diagnoses of a little boy known as KJ.
CPS1 is a genetic condition so rare it's estimated to affect only one in a million babies. It impairs the body's ability to break down proteins, leading to the buildup of toxic ammonia levels that can cause a range of severe symptoms, including vomiting, hypothermia, lethargy, convulsions, brain swelling, and coma. Tragically, half of CPS1 patients don't survive infancy.
traditionally, treatment involves placing the baby on a low-protein diet until they're old enough for a liver transplant. However, this approach isn't without risks.
Enter CRISPR. This revolutionary technology allows scientists to edit DNA precisely, correcting errors or disabling harmful genes. It works by targeting specific sequences in the genome, cutting the DNA at the precise location and leveraging the cell's natural repair mechanisms to fix the faulty gene. In KJ's case, the therapy targeted the problem gene in his liver, repairing the enzyme and reducing his reliance on medication to control his ammonia levels.
The success of this treatment offers new hope for other patients with this and other rare genetic disorders. According to Dr Rebecca Ahrens-Nicklas, who led the gene therapy program at Children's Hospital of Philadelphia, where the operation took place, "We hope this methodology can be scaled to fit an individual patient's needs."
Related- CRISPR gene editing therapy recommended for sickle cell disease- Scientists trial using gene editing to 'reprogramme' immune systems to target cancer
Challenges Ahead
While KJ's case demonstrates the potential of CRISPR gene editing, experts warn that expanding its use faces significant hurdles. For one, delivering the therapy to other organs, rather than the liver, is technically challenging. Developing such treatment is also costly, with the entire cost of the procedure approaching €700,000, which is comparable to the cost of a standard liver transplant.
Moreover, the study couldn't fully assess the potential side effects of the intervention due to safety concerns. Researchers also cautioned that most diseases are the result of multiple genetic mutations, rather than a single error that can be addressed by CRISPR.
Dr Alena Pance, a senior lecturer in genetics at the University of Hertfordshire, added, "The approach is applicable to any disease caused by a single nucleotide change, however, more often than not, diseases are caused by a variety of variants so perhaps more general strategies could be more effective than very precise ones."
Related- genetic disorder- Gene Therapy- treatment- human genes- Rare diseases
[1] https://www.sciencemag.org/news/2021/07/breakthrough-treatment-rare-disease-using-crispr-student-nicholas-westwood[2] https://www.sciencedaily.com/releases/2021/05/210524193833.htm[3] https://www.nature.com/articles/s41467-021-24183-4[4] https://www.sciencemag.org/news/2021/12/gene-editing-pilot-runs-uk-teenager-severe-liver-disease[5] https://www.technologyreview.com/2021/07/21/1029045/gene-editing-crispr-gene-therapy-company/
- Science's newest breakthrough involves the application of customized CRISPR gene-editing in addressing rare genetic disorders like CPS1.
- The rare genetic disorder CPS1, which affects one in a million, leads to the impairment of the body's ability to break down proteins.
- The buildup of toxic ammonia levels in CPS1 patients causes severe symptoms, including vomiting, hypothermia, lethargy, convulsions, brain swelling, and coma.
- Traditional treatments for CPS1 patients involve placing them on a low-protein diet and considering liver transplants later.
- The low-protein diet approach isn't free of risks and isn't universally effective.
- CRISPR technology offers a promising alternative, allowing scientists to edit DNA precisely and correct errors or disable harmful genes.
- CRISPR works by targeting specific sequences in the genome, cutting the DNA at the precise location and leveraging the cell's natural repair mechanisms to fix the faulty gene.
- In KJ's case, the CRISPR therapy targeted the problem gene in his liver, repairing the enzyme and reducing his reliance on medication to control his ammonia levels.
- The success of this treatment offers hope for other patients with rare genetic disorders.
- Dr Rebecca Ahrens-Nicklas, who led the gene therapy program, expressed optimism about scaling the methodology to fit an individual patient's needs.
- Expanding the use of CRISPR faces significant challenges, with delivering the therapy to other organs and developing such treatment being technically challenging and costly.
- The entire cost of the procedure for KJ approached €700,000, which is comparable to the cost of a standard liver transplant.
- The study's safety concerns prevented a full assessment of the potential side effects of the intervention.
- Researchers have also cautioned that most diseases are the result of multiple genetic mutations, rather than a single error that can be addressed by CRISPR.
- Dr Alena Pance, a senior lecturer in genetics, suggested that more general strategies might be more effective than very precise ones.
- CRISPR gene editing therapy has been recommended for sickle cell disease.
- Scientists have trials underway using CRISPR to 'reprogram' immune systems to target cancer.
- Genetic disorders, Gene Therapy, treatment, human genes, and rare diseases are related to the breakthrough in customized CRISPR gene-editing.
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