Human Genetics

Gene Expression Profiling is a technique used to measure the activity of genes in a given sample by quantifying the levels of messenger RNA (mRNA) produced from those genes. This provides insight into which genes are active, inactive, or overactive in a particular cell or tissue under specific conditions. It is commonly used in comparative studies to examine gene expression differences, such as between diseased and healthy tissues or before and after a treatment. Techniques like microarrays, RNA sequencing (RNA-Seq), and quantitative PCR (qPCR) are employed to measure gene expression. RNA-Seq is the most modern and comprehensive method, allowing for the sequencing of the entire transcriptome, offering higher sensitivity and the detection of novel transcripts. The process typically involves extracting RNA from samples, converting it to complementary DNA (cDNA), and amplifying and quantifying the cDNA to assess gene activity. Gene expression profiling has broad applications in cancer research, drug discovery, personalized medicine, and environmental studies. It helps identify biomarkers, understand disease mechanisms, tailor treatments, and analyze how gene expression changes in response to external factors. However, challenges such as the complexity of the data, technical variability, and biological noise must be considered when interpreting the results. Despite these challenges, gene expression profiling continues to provide valuable insights into biology and medicine.