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European Biopharmaceutical Review

A Promising Project

EBR: Can you tell us briefly about the history of genomics and the 100,000 Genomes Project?

Geoff Low: Genomics focuses on the analysis of the genome – the order of a complete set of DNA located within the individual cells of an organism. Advances in molecular sequencing and bioinformatics technology have driven this approach, which goes well beyond the gene-based view of genetics towards one where we can analyse how groups of genes work together.

Perhaps the most important historical example of genomic science is the Human Genome Project (HGP), a large cooperative undertaking in which the entire human genome was sequenced at a cost of $2.7 billion. The aim of the HGP was to discover the estimated three billion nucleotides in a human haploid reference genome, thereby giving scientists a platform for finding the genetic basis for disease, as well as a dataset for a deeper understanding of the human organism. Given the success of the HGP, subsequent projects were carried out to expand the number of genomes under investigation, as relatively minor changes in the genome itself can lead to vastly different outcomes in development and behaviour (the phenotype).

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Jason Mezey is a tenured professor at Cornell University in the Department of Biological Statistics and Computational Biology. He has a joint appointment in the Department of Genetic Medicine at Weill Cornell Medicine. As a Senior Consultant at Medidata, he is a lead architect of the clinical trial genomics platform, providing data management, standardisation and analytics utilities for the identification of genomics-driven insights in clinical trials.

As Senior Lead Systems Architect for Medidata, Geoff Low is responsible for evaluating ways of satisfying business needs. He has experience with a wide range of approaches and technologies, including MapReduce, Python (Django/ Flask), Semantic Technologies, Data Visualisation (D3JS), XML, Javascript and R, among many others.

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Jason Mezey
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Geoff Low
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