The diagnosis, treatment and prevention of genetic disease
Professor Sir John Burn Kt
Professor of Clinical Genetics, Newcastle University (UK)

The great science fiction author, H G Wells said “I have seen the future and it works”on his return from Russia in 1917.  This reminds us that, as the Nobel Laureate Neils Bohr said, “Prediction is very difficult, especially about the future”.  The last  two decades are awash with predictions of how the analysis of DNA will change our lives and how our medical care will be personalized.  Despite the danger, this is a time for prediction; the presentation will begin with a tangible example of how the discovery of a rare disease led to a better understanding of the role of iron in the brain and prospects for targeted care. This might rely on “treating” the individual genotype or on use of imaging modalities to identify early disease and treat more effectively with new expensive interventions  such as stem cell therapies.

The revolutionary pace of development of genomic technology is making the solution to rare diseases commonplace and the scene is set for expansion into common disease.  The recent announcement of £100 million to sequence 100,000 NHS patients will bring into sharp focus the challenge of the 3 million mostly irrelevant variants predicted for each of us. An international effort born in Melbourne to transform this noise into a clinical signal, the Human Variome Project, is now recognized by UNESCO.  Technical developments in cheap reliable genotyping at the point of need will allow this knowledge to be applied in real time anywhere.  Our start-up company, QuantuMDx ltd, is developing the QPoc which will allow cheap DNA testing in minutes to better direct interventions.  Such intervention will help identify people who should use simple preventive strategies and how to avoid adverse events;  we have shown that regular long term aspirin can more than half the cancer rates in those at increased genetic risk of cancer, statins can prevent heart attacks in those who have a genetic and/or environmental predisposition to high cholesterol while warfarin is prescribed for millions.  In all cases, personalized DNA testing can reduce the risk of adverse events and allow these simple interventions to be used more effectively to reduce the burden of disease.

Professor Sir Burn is currently the lead clinician for the UK National Health Service (North East), and genetics lead for the UK National Institute of Health Research. He was previously a director of the Institute of Genetic Medicine at The University of Newcastle-Upon-Tyne (2005-2010), and president of the European Society of Human Genetics (2007)

Professor Burn is widely regarded in the field of monogenic disorders particularly in establishing the genetic basis of a neurodegenerative disorder called neuroferritinopathy, and the major form of hereditary colorectal cancer called the Lynch syndrome. He led the study that demonstrated the use of aspirin in reducing the risk of colorectal and other cancers in persons with Lynch syndrome, and leads an international consortium investigating chemoprevention in persons with hereditary non-polyposis colon cancer.

He is currently exploring cell-based vaccines for colorectal cancer, and is involved in a startup company which aims to develop the use of nanowires, nanotubes and nanoribbons in genotyping and gene sequencing.

He plays as a drummer in a band called the “Famous Last Words.”

Date: Tuesday 3 September 2013

Time: 6.00pm – 7.00pm

Venue: The Auditorium, Melbourne Brain Centre, Ground Floor
Kenneth Myer Building
30 Royal Parade (corner Genetics Lane)
The University of Melbourne 
Please note changed from regular venue for Dean’s Lectures
Admission is free. Bookings are required


For further information call 8344 9800

Human Variome Project Timothy D. Smith
Communications Officer
Human Variome Project
Level 5, 234 Queensberry Street
The University of Melbourne, Victoria, 3010
Tel: +61 (0)3 8344 2096
Fax: +61 (0)3 9347 6842
Skype: tim_d_smith
Mob: +61 (0)419 357 589
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