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<p>The first 25&#xa0;years of the twenty-first century revolutionized genetics and genomics. Completion of the human genome, falling sequencing costs, and development of CRISPR enabled identification of disease-associated variants and direct editing of endogenous loci. Gene editing therapies have now reached clinical approval for previously incurable disorders. This issue highlights how human genetic variation from SNPs to structural alterations, continues to shape disease biology, including examples from population-scale studies, SNP-driven epigenetic regulation, and disorders such as CADASIL. Epigenetics and non-coding RNA research have expanded, with articles illustrating miRNA dysregulation in cervical cancer and plant disease models. Multi-omics technologies now allow mechanistic mapping across genome, epigenome, transcriptome, and proteome, illustrated by studies on m6A regulators (FTO, ALKBH5) and cfDNA in bladder cancer. Looking ahead, AI-assisted interpretation, polygenic screening, multi-omic profiling, and synthetic biology are poised to redefine medicine. Genomics is transitioning from descriptive biology to programmable biological engineering, with direct implications for precision diagnostics, therapeutics, and population health.</p>

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Breakthroughs in genetics and genomics research in the first 25 years of the new millenia

  • 期刊论文

  • 发表日期：

    2025年11月8日

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  • Somnath Paul

摘要

The first 25 years of the twenty-first century revolutionized genetics and genomics. Completion of the human genome, falling sequencing costs, and development of CRISPR enabled identification of disease-associated variants and direct editing of endogenous loci. Gene editing therapies have now reached clinical approval for previously incurable disorders. This issue highlights how human genetic variation from SNPs to structural alterations, continues to shape disease biology, including examples from population-scale studies, SNP-driven epigenetic regulation, and disorders such as CADASIL. Epigenetics and non-coding RNA research have expanded, with articles illustrating miRNA dysregulation in cervical cancer and plant disease models. Multi-omics technologies now allow mechanistic mapping across genome, epigenome, transcriptome, and proteome, illustrated by studies on m6A regulators (FTO, ALKBH5) and cfDNA in bladder cancer. Looking ahead, AI-assisted interpretation, polygenic screening, multi-omic profiling, and synthetic biology are poised to redefine medicine. Genomics is transitioning from descriptive biology to programmable biological engineering, with direct implications for precision diagnostics, therapeutics, and population health.