Advances in genetic sequencing diagnose Paralympic hopeful's rare condition

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 part-funded by the Wellcome Trust has identified Tom's condition and pinpointed the single genetic mutation that causes it.

Fuente : http://www.eurekalert.org/pub_releases/2013-06/wt-...