Making NGS accessible
An indispensable tool, a complex industry
NGS enables massively parallel sequencing of DNA and has become an indispensable tool in areas such as research, genomics, diagnostics, biopharma, agriculture, and more. In the context of healthcare, NGS has tremendous value in disease diagnosis, understanding disease mechanisms, and developing drugs, therapies, and vaccines.
Key NGS technologies include Illumina (sequencing by synthesis), ThermoFisher/Ion Torrent (semiconductor sequencing), PacBio (SMRT sequencing), and ONT (nanopore sequencing), with newer approaches emerging from companies such as Element Biosciences, Ultima Genomics, and Roche. Collectively, these cover short, mid, long, and ultra-long read sequencing, analysis of clonally amplified DNA or single molecule sequencing (the latter with the option of detecting base modifications), varying sequencing accuracies, different levels of instrument portability, and options for real time sequencing.
With so many options and an evolving industry, it can be difficult to navigate questions around best fit technology and approach to create the highest impact workflows. I established IntelliGene Dx to provide independent support in this area, so that clients can harness the full benefits that NGS has to offer, in their unique area of discovery and innovation.
I am a molecular biologist with 20 years' experience across academia and biotech. My passion is scientific innovation and the transformative impact it can have on healthcare. I specialise in the design of molecular assays and workflows, particularly in complex areas.
I spent the first ten years of my career in academia researching genetics and genomics, including a PhD and PostDoc positions. I evaluated many clinical research samples along the way, explored molecular technologies, saw NGS emerge, and designed approaches to address complex questions. It was always fascinating to be able to pinpoint, at a molecular level, the genetic basis of disease. I wanted to continue doing that, in a way that could more directly benefit patients, and found molecular diagnostics.
I spent the next decade in biotech, mostly in diagnostics, always working with DNA (ONT, DNA Script, DNAe, and Enigma Diagnostics). I developed CE-IVD assays, learned about creating an NGS platform, provided specialist support across R&D departments, and more. Most recently, I established and led the Apps Dx team at Oxford Nanopore, a specialised group responsible for the development of molecular diagnostic assays that harness the benefits of nanopore sequencing.
I now apply my expertise widely by working with innovative startups and life sciences companies who share in the same goal - to make a positive impact on healthcare. I enjoy creating innovative designs, high quality assays, and beautiful data.
