Artemis Gene SCID Pig Model for Radiosensitive Immunodeficiency Research
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Solution Overview
Problem
Current transgenic models of severe combined immunodeficiency disease (SCID) in pigs do not accurately mimic human immunodeficiency diseases requiring irradiation conditioning for bone marrow transplants and lack a natural porcine model targeting the Artemis gene, which is crucial for understanding radiosensitive immunodeficiency.
Innovation Solution
Development of porcine subjects with SCID resulting from mutations in the Artemis gene, allowing for the creation of a genetic test to identify SCID pigs and carriers, and utilizing these models for biomedical research, including cancer and stem cell research, by modulating the expression or function of the Artemis protein gene product.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If transgenic models of SCID are used in pigs, then research on immune system disorders can be conducted, but the models do not accurately mimic human immunodeficiency diseases requiring irradiation conditioning
Solution Approach 1:
The patent changes the genetic parameter by specifically targeting mutations in the Artemis gene (DCLRE1C) rather than using random or generic transgenic modifications. This parameter change creates a more accurate representation of human radiosensitive immunodeficiency diseases, resolving the contradiction between model accuracy and applicability to human conditions.
2Reliability
If the Artemis gene is targeted to create natural porcine SCID models, then accurate representation of radiosensitive immunodeficiency is achieved, but previous transgenic models lacked this specificity
Solution Approach 1:
The patent employs preliminary action by using CRISPR-Cas9 gene editing technology to pre-target the Artemis gene before breeding programs. This preliminary genetic modification approach simplifies the overall process of creating accurate SCID models compared to traditional transgenic methods, as it directly introduces the specific mutations associated with human radiosensitive immunodeficiency without requiring complex multi-step transgenic procedures.
3Reliability
If SCID pigs are used for biomedical research including cancer and stem cell research, then research quality improves, but identification of SCID pigs and carriers requires development of genetic tests
Solution Approach 1:
The patent replaces mechanical or phenotypic detection methods with molecular biology-based genetic testing. By developing PCR-based assays that detect specific mutations in the Artemis gene, the patent enables early and accurate identification of SCID pigs and carriers before phenotypic expression occurs, thereby facilitating high-quality biomedical research while simplifying the detection process.
Data Source
AI summary
The genetic basis for severe combined immunodeficiency disease (SCID) in pigs is described. In addition, tests for detecting pigs that are carriers for SCID or pigs with SCID are also described. Further, methods for producing pigs or herds of pigs with SCID are also described. Further, methods and compositions for treating, ameilioraing, inhibiting or correcting SCID are provided.