Customised Gene-Editing Treatment

Source: IE

Context: A nine-month-old boy suffering from a rare CPS1 deficiency became the first known human to receive a customised gene-editing treatment using a base editing technique.

About Custom Gene Editing Technique:

• What It Is?

• A personalised gene therapy based on an evolved form of CRISPR-Cas9, known as base editing. It allows for single-base correction in DNA without breaking both strands, unlike traditional CRISPR.

• A personalised gene therapy based on an evolved form of CRISPR-Cas9, known as base editing.

• It allows for single-base correction in DNA without breaking both strands, unlike traditional CRISPR.

• Organisation Involved: Developed by University of Pennsylvania and Children’s Hospital of Philadelphia.

• Procedure:

• Diagnosis: The child (KJ) was found to have a mis paired base in his DNA, leading to CPS1 deficiency. Programming the Edit: Scientists designed a guide RNA and attached it to a base-modifying enzyme fused with Cas9. Targeted Delivery: The tool identified the faulty base and converted it to the correct base without making a double-strand cut. Analogy: Base editing is like using a pencil and eraser, whereas CRISPR is like scissors and glue.

• Diagnosis: The child (KJ) was found to have a mis paired base in his DNA, leading to CPS1 deficiency.

• Programming the Edit: Scientists designed a guide RNA and attached it to a base-modifying enzyme fused with Cas9.

• Targeted Delivery: The tool identified the faulty base and converted it to the correct base without making a double-strand cut.

• Analogy: Base editing is like using a pencil and eraser, whereas CRISPR is like scissors and glue.

• Gene editing vs Base Editing:

• Significance:

• First Human Success: Pioneering example of real-time precision medicine in rare genetic disorders. No Foreign DNA Required: Unlike older CRISPR methods, this does not require external DNA insertion. Compact Delivery: Easier to deliver using viral vectors due to fewer components. Potential Reach: Can treat thousands of genetic conditions once personalised sequencing is done.

• First Human Success: Pioneering example of real-time precision medicine in rare genetic disorders.

• No Foreign DNA Required: Unlike older CRISPR methods, this does not require external DNA insertion.

• Compact Delivery: Easier to deliver using viral vectors due to fewer components.

• Potential Reach: Can treat thousands of genetic conditions once personalised sequencing is done.

• Limitations:

• High Cost: Currently costs hundreds of thousands of dollars, making it unaffordable for most. One-Time Customisation: Each tool is unique to the patient, making mass-scale application difficult. Lack of Regulatory Clarity: Countries like India face regulatory bottlenecks, delaying clinical use. Low Pharma Incentive: Not commercially viable for pharmaceutical firms due to individual-specific design.

• High Cost: Currently costs hundreds of thousands of dollars, making it unaffordable for most.

• One-Time Customisation: Each tool is unique to the patient, making mass-scale application difficult.

• Lack of Regulatory Clarity: Countries like India face regulatory bottlenecks, delaying clinical use.

• Low Pharma Incentive: Not commercially viable for pharmaceutical firms due to individual-specific design.