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Last week, Dr. Jim Wilson (University of Edinburgh) an Orcadian, gave a talk at the Western General Hospital in Edinburgh, about a 10-year genetic study that he has led called ORCADES, that sampled the population of Orkney.  The data his team has gathered matches genetic data with clinical data.  He spoke about some recent findings on gout and heart disease.  When we think of gout, great arthritic pain and the gluttony of 17th and 18th century Aristocracy, typically comes to mind.  However in 2008, this study combined with data from studies in Croatia and Germany complicated this picture.  They managed to narrow down 7 gene variants which resulted in a grossly elevated level of uric acid in blood.  High levels of uric acid are linked with gout, which affects millions of people around the world.  This study helped uncover an added role for a known sugar transporter, called SLC2A9, finding its dual role as a uric acid transporter in our cells.  This was a significant step for the treatment of gout.

Yet this study has not stopped there.  Data gathered by ORCADES has also been used to identify 22 genes, 16 known and 6 new genes, linked to heart disease.  These 22 genes were turned into a diagnostic tool which was as good as the current gold standard of measuring cholesterol levels.  In a few years genetic diagnostics are predicted to become cheaper than measuring cholesterol level; another major benefit is that genetics can be detected at birth, not when the patient decides they can no longer bear the pain.

The links between the underlying factors in our genome and disease will continue to be unravelled by this study, especially as technology and science continue to advance.  The study of these underlying factors could lead to new therapies.  Excitingly, the data collection by ORCADES is still ongoing and has been expanded to bone disease, obesity, age-related diseases, myopia and others.  The scope of this study is breathtaking; how does Dr. Jim Wilson manage it all?

Links to nature genetics papers:

http://www.nature.com/ng/journal/v40/n4/full/ng.106.html

http://www.nature.com/ng/journal/v41/n1/full/ng.269.html

More about ORCADES (bit old):

http://www.phgfoundation.org/news/1423/

http://www.orkney-mcn.org/CHD/ORCADES.html

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