[ASC-list] [Vic] Free Public Lecture - The diagnosis, treatment and prevention of genetic disease - Professor Sir John Burn

Timothy D. Smith tim at variome.org
Thu Aug 22 02:18:20 UTC 2013


*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

RSVP: http://alumni.online.unimelb.edu.au/john_burn

For further information call 8344 9800

-- 
[image: Human Variome Project] Timothy D. SmithCommunications Officer  Human
Variome ProjectLevel 5, 234 Queensberry Street The University of Melbourne,
Victoria, 3010Australia Tel: +61 (0)3 8344 2096 Fax: +61 (0)3 9347 6842Skype:
tim_d_smith Mob: +61 (0)419 357 589 E-mail: tim at variome.org Web:
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------------------------------

Join the global effort to share genomic knowledge and reduce disease by
becoming a member of the Human Variome Project Consortium. Membership is
free and open to everyone with an interest in helping patients with genetic
disease. Join now at
http://www.humanvariomeproject.org<http://www.humanvariomeproject.org/?utm_source=email&utm_medium=sig_link&utm_content=second&utm_campaign=general>
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