Big data from small cells
The successful completion of the Human Genome Project in 2003 resulted in the first complete sequence of the human genome, a feat that took more than ten years and cost around 2.7 billion dollars. Today, through significant advances in technology, we can sequence an individual’s genome in under a week for less that one thousand dollars. The creation of faster and cheaper methods of DNA sequencing offers significant benefits to scientific research into rare and common diseases and human health. Genomic technologies are bringing biomedicine belatedly into the “big data” era, enabling us to assay DNA, gene expression and proteins rapidly at unprecedented resolution and scale.
New technologies have enabled genomic assays at the single-cell level giving us a better appreciation for previously unknown cell types and the extent of variability between cells under the same conditions. These advances underpin my current work on understanding genetic regulation of gene expression in human induced pluripotent stem cells (iPSCs). The dream is ultimately to use iPSCs to create individually-tailored treatments for currently incurable illnesses.
About Dr David McCarthy:
Davis is a statistician and genomic scientist currently working on understanding genetic regulation of human induced pluripotent stem cells at the single-cell level. In 2015 he completed his DPhil in Statistics in the Department of Statistics and the Wellcome Trust Centre for Human Genetics at the University of Oxford. Under the supervision of Professor Peter Donnelly he worked on the analysis of genomic variation in human health and disease, with a focus on understanding the genetic contributions to risk for type 2 diabetes. He is now an NHMRC Early Career Research Fellow, working with Dr Oliver Stegle in the Statistical Genomics group at the European Bioinformatics Institute (EMBL-EBI) in Cambridge, UK. His interests lie in developing statistical methods and software for the analysis of single-cell genomic data and applying them to large biological datasets.
Dr Davis McCarthy, 2011 John Monash Scholar
NHMRC Early Career Fellow, Statistical Genomics Group, EMBL-EBI, Cambridge
About The Change Agenda:
The inaugural John Monash Scholars’ Symposium, The Change Agenda: Leadership and Direction for Australia’s Future, was held in Oxford on 1 April 2016. The UK and Europe based John Monash Scholars used short bite size presentations to inform a conversation on global trends, and provoke discussion about appropriate responses to them. Each area of discussion, Drivers of Change, Our Human Response, Harnessing Technology, and Leading the Region, included 5-6 presentations, was chaired by an eminent Australian and took questions from the floor.