Investigating genetic diseases involves a multifaceted approach that integrates genomic analysis, genetic screening, and molecular diagnostics to identify and understand the underlying causes of hereditary conditions. Researchers utilize whole-genome sequencing and exome sequencing to detect mutations and genetic variants associated with diseases such as cystic fibrosis, Huntington's disease, and muscular dystrophy. Advanced bioinformatics tools are employed to analyze genotype-phenotype correlations and predict disease risk. Additionally, the study of epigenetics and gene-environment interactions helps in understanding how external factors influence the expression of genetic disorders. Functional genomics and CRISPR-Cas9 technology are increasingly used to explore gene function and develop potential gene therapies. This comprehensive approach is crucial for advancing personalized medicine and improving diagnostic accuracy and therapeutic options for individuals affected by genetic diseases.
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