Previous Fora / 2013
BURN, John
Professor, Newcastle University, Human Variome Project
Professor Sir John Burn MD FRCP FRCPE FRCPCH FRCOG FMedSci was born and trained in medicine in North East England. He returned there in 1984 as its first consultant in clinical genetics and went on to become the professor of Clinical Genetics at Newcastle University in 1991. After 30 years as the leader of a highly successful NHS service and Human Genetics research institute he now combines his clinical and teaching role with being chief investigator of CAPP, the international Cancer Prevention programme, genetics lead for the UK National Institute of Health Research, medical director of the medical device company, QuantuMDx ltd., and co-chair of the Scientific Advisory Board of the Human Variome Project. With his wife of 40 years, Linda, he has two children and four grandchildren and his favourite pastime is playing the drums. He was knighted by Queen Elizabeth II in 2010 for services medicine and healthcare.
ABSTRACT
09:00-10:30 25 NOVEMBER
PLENARY SESSION I. “INEQUALITIES AS BARRIERS FOR GLOBAL SUSTAINABILITY”
The dramatic increase in health related DNA sequencing and high visibility publicity such as the decision by Angela Jolie to undergo radical preventive surgery due to an inherited cancer predisposition have focused attention on the use of genetic technology in medicine, now referred to as genomics. Each individual carries around 3 million differences in their DNA sequence, most of which have no medical relevance while some can result in devastating disease. Working out which DNA changes are relevant and integrating that knowledge into healthcare is the greatest challenge facing modern medicine. The former question needs a willingness to share information and an infrastructure to make that possible. For almost a decade, an international community of scientists and clinicians have worked to create that structure under the name of the Human Variome Project, a title chosen to reflect its extension of the achievements of those who brought the Human Genome Project to fruition at the turn of the century. High throughput sequencing, such as the new UK government funded 100,000 genome project, will answer many questions but we can only address the detail and scope by having connection to the millions of people whose health is impaired by these gene changes. Most human genetic variation resides in the ancient populations who are often the most remote and deprived. The latest inventions in DNA analysis, computing and communication can be made to improve healthcare globally while expanding our collective knowledge. With support from UNESCO and WHO, the Human Variome Project seeks to enable the disabled child in the desert to touch, and be touched by, the pinnacle of human technical achievement and in so doing improve the health and wellbeing of generations not yet born.