Human Genomics and Genetic Basis of Disease

Inherited and acquired mutations driving conditions such as sickle-cell anaemia, thalassaemia, and hereditary cancers sit at the centre of human genomics, and translating that knowledge into therapy is what distinguishes genomics from earlier descriptive biology. Mapping tools include next-generation sequencing (NGS), single-nucleotide polymorphisms (SNPs), and genome-wide association studies (GWAS). India's GenomeIndia Project under DBT aims to sequence 10,000 Indian genomes to capture population-level genetic diversity for precision medicine. CRISPR-Cas9 gene-editing and pharmacogenomics convert genomic data into interventions, including the government's National Sickle Cell Anaemia Elimination Mission targeting 2047.