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  3. Next generation DNA sequencing

The development of Next Generation Sequencing technology has reduced the time and cost of sequencing DNA, improving our understanding of the genetic basis of disease and enabling personalised medicine. 

Research led by Prof Sir Shankar Balasubramanian, with collaborator Prof Sir David Klenerman, focused on understanding the action of DNA polymerase on immobilised DNA substrates using single molecule detection. Their work led to the foundation of Solexa, a spin-out company established to develop this approach to DNA sequencing. 

Next Generation Sequencing allows for the rapid and accurate sequencing of DNA by enabling the simultaneous analysis of many DNA fragments. This method significantly increased the speed and decreased the cost of sequencing, making it accessible to a wider range of researchers and clinicians. In 2007, Illumina acquired Solexa, further developing and scaling the technology. Today, Illumina’s platforms sequence over a million genomes per year, holding more than 80% of the market share in Next Generation Sequencing. 

NGS has enabled large-scale projects like the 100,000 Genomes Project and the International Cancer Genome Project, enhancing our understanding of genetic variations and their implications for disease. NGS technology is now a key tool in diagnosing and treating genetic disorders and cancers, making personalised medicine quicker and more affordable. Illumina, built on the foundation of Solexa’s technology, employs over 7,000 people worldwide and generates over $3 billion in annual revenue, primarily from NGS-related products. 

Further research from the Balasubramanian Group has led to the development of technology for decoding epigenetic modifications, resulting in the spin-out company  Biomodal. This company focuses on the simultaneous sequencing of genetic and epigenetic information, improving our understanding of how the genome and epigenome contribute to disease. Biomodal has raised over £100 million in funding and employs nearly 100 staff, continuing to advance the field of genetic research and its applications.