Artificial intelligence in genomic medicine

Augusto holds a degree in Physics from the Universidad de los Andes, Bogota, Colombia. He undertook his PhD at the University of Toronto in the Department of Medical Biophysics. He then moved to the University of Cambridge to pursue postdoctoral work in computational biology and statistical genomics, reaching the level of Principal Research Associate. Since 2014 He has worked at Genomics England, initially as Director of Bioinformatics – now Chief Bioinformatician. There, he leads the bioinformatics and data sciences functions, with a team of about 60 genomic data scientists, bioinformaticians, engineers and curators. He has overseen the establishment of the pipelines to analyse and manage all genomic data for the UK 100,000 genomes project and the NHS Genomic Medicine Service. Together with his team, he has designed and implemented the clinical interpretation systems that return findings to patients, with special care such that knowledge accumulated through this process is best exploited to improve patient care and enhance discovery – thus creating a learning system in genomic medicine. He is husband, father of two wonderful kids, two cats and a dog.

Pearse Keane is Professor of Artificial Medical Intelligence at UCL Institute of Ophthalmology, and a consultant ophthalmologist at Moorfields Eye Hospital, London. He is originally from Ireland and received his medical degree from University College Dublin (UCD), graduating in 2002. In 2016, he initiated a formal collaboration between Moorfields Eye Hospital and Google DeepMind, with the aim of developing artificial intelligence (AI) algorithms for the earlier detection and treatment of retinal disease. In August 2018, the first results of this collaboration were published in the journal, Nature Medicine. In May 2020, he jointly led work, again published in Nature Medicine, to develop an early warning system for agerelated macular degeneration (AMD), by far the commonest cause of blindness in many countries. In October 2019, he was included on the Evening Standard Progress1000 list of most influential Londoners (https://www.standard.co.uk/news/the1000) and in June 2020, he was profiled in The Economist (https://www.economist.com/technology11950302.1 quarterly/2020/06/11/the-potential-and-thepitfalls-of-medical-ai). In 2020, he was listed on the “The Power List” by The Ophthalmologist magazine, a ranking of the Top 100 most influential people in the world of ophthalmology (https://theophthalmologist.com/powerlist/2020).

Dr Stephen F Kingsmore is the President and Chief Executive Officer of Rady Children's Institute for Genomic Medicine where he leads a multi-disciplinary team of scientists, physicians and researchers who are pioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically-ill newborns. Among his achievements, Dr Kingsmore holds the Guinness World Record for achieving the fastest molecular diagnosis using whole genome sequencing in just 19.5 hours. Before being selected to lead RCIGM, he was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital, Kansas City. Dr Kingsmore received MB ChB BAO BSc and DSc degrees from the Queen's University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship in rheumatology at Duke University Medical Center.

Mihaela van der Schaar is the John Humphrey Plummer Professor of Machine Learning, Artificial Intelligence and Medicine at the University of Cambridge, a Fellow at The Alan Turing Institute in London, and a Chancellor’s Professor at UCLA. In addition to leading the van der Schaar Lab, Mihaela is founder and director of the Cambridge Centre for AI in Medicine (CCAIM). Mihaela was elected IEEE Fellow in 2009. She has received numerous awards, including the Oon Prize on Preventative Medicine from the University of Cambridge (2018), a National Science Foundation CAREER Award (2004), 3 IBM Faculty Awards, the IBM Exploratory Stream Analytics Innovation Award, the Philips Make a Difference Award and several best paper awards, including the IEEE Darlington Award. Mihaela is personally credited as inventor on 35 USA patents (the majority of which are listed here), many of which are still frequently cited and adopted in standards. She has made over 45 contributions to international standards for which she received 3 ISO Awards.