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Genomic and Immunological Characterization of RAG- ...
Genomic and Immunological Characterization of RAG-Deficient SCID Implications for Personalized Therapeutic Approaches
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The document discusses the genomic and immunological characterization of RAG-deficient severe combined immunodeficiency disease (SCID) and its implications for personalized therapeutic approaches. RAG-deficient SCID is caused by mutations affecting the RAG1 and RAG2 proteins, essential for immune system development. The study aimed to improve understanding by linking patient phenotype with genetic variations, such as missense, nonsense, and frameshift mutations. Data was collected and categorized to derive patterns for tailored treatments based on genotype. Genomic screening could predict pathogenicity and aid in personalized care strategies. Challenges were noted in correlating genetic mutations with clinical symptoms due to variability in protein effects. Further experimental work, longitudinal studies, and standardized data analysis are recommended to enhance therapeutic interventions. The study highlights the value of variant annotation for patient diagnosis and treatment decisions. The development of a standardized curation framework and search workflow template is proposed for future research. Overall, the research sheds light on the importance of understanding genotype-phenotype associations in RAG-deficient SCID for effective personalized medical interventions.
Keywords
RAG-deficient SCID
genomic characterization
immunological characterization
personalized therapeutic approaches
RAG1 protein
RAG2 protein
genetic variations
tailored treatments
genomic screening
genotype-phenotype associations
Roshni Arun (roshnia1@unc.edu)
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
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