Advances in genetic sequencing diagnose Paralympic hopeful's rare condition

Sunday, June 16, 2013 - 21:00 in Biology & Nature

National Paracycling Champion Tom Staniford has an extremely rare condition which, until now, has puzzled his doctors. He is unable to store fat under his skin -- yet has type 2 diabetes -- and suffered hearing loss as a child. Now, thanks to advances in genome sequencing, an international research team has identified Tom's condition and pinpointed the single genetic mutation that causes it.

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