human health

human health

Big data from small cells

5d ago
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Dr Davis McCarthy, 2011 John Monash Scholar NHMRC Early Career Fellow, Statistical Genomics Group, EMBL-EBI, Cambridge 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. About The Change Agenda: The Change Agenda: Leadership and Direction for Australia's Future, was held in Oxford on 1 April 2016 and included 20 short presentations from John Monash Scholars studying and working in the United Kingdom and Europe. More information about the conference is available on our website: www.http://johnmonash.com/archives/category/the-change-agenda About the General Sir John Monash Foundation: Our mission is to invest in outstanding Australians from all fields of endeavour who demonstrate remarkable qualities of leadership and have the ability to deliver outcomes and inspire others for the benefit of Australia. The John Monash Scholarships are postgraduate scholarships awarded to outstanding Australians with leadership potential who wish to study overseas. The John Monash Scholarships are amongst the most important postgraduate scholarships currently available in Australia. Apply for a John Monash Scholarship: Applications open on the 1st of May and close on the 1st of August of each year. Australian Citizens who have completed an undergraduate degree in Australia (or are about to complete) and want to pursue a Masters or PhD program overseas are eligible to apply. There are no restrictions to age, study discipline, or choice of overseas institution. Visit our website to learn more about us and apply for a scholarship: http://johnmonash.com/ Follow us on Twitter: https://twitter.com/MonashScholars Follow us on LinkedIn: https://www.linkedin.com/company/general-sir-john-monash-foundation Like us on Facebook: https://www.facebook.com/johnmonashfoundation Music: composed by Alies Sluiter: http://www.aliessluiter.com/. Alies is the recipient of the 2014 Australian Cultural John Monash Scholarship, supported by the Australia Council for the Arts and Mr Tim Fairfax AC. S...