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Genomic medicine: cracking genomes to cure ‘incurable’ diseases

We are on the precipice of realising the true potential of genomics studies. Following completion of the Human Genome Project six years ago, huge strides have been made in understanding how the genome works, shedding light on disease pathogenesis and forging therapeutic efforts. In this article, Pushpanathan Muthuirulan explains how genomic medicine has the potential to transform clinical treatment.

Abstract

JUST SEVERAL years ago, the use of genomic technologies to better understand and treat genetic disorders was largely out of reach for most researchers and clinicians due to high costs and technology limitations. However, recent advances in more cost-effective, high-throughput genetic sequencing technologies, which facilitated the effective completion of the Human Genome Project (HGP) in 2013, have provided a complete genetic blueprint for building a human being. This has enabled scientists to better understand how the genome works and how differences between individuals’ genomes can influence health and disease. The new era of genomic medicine has opened our eyes, enabling us to understand diverse characteristics of most common and rare human genetic diseases and help inform advances in biomedical research and drug discovery. Thus, the field of genomic medicine is progressing at rapid pace. Genomics will likely become a routine part of clinical practice; expanding the precision medicine effort towards curing ‘incurable’ diseases.











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