exome
edyong | October 20, 2009This is the story of a Turkish boy, who became the first person to have a genetic disorder diagnosed by thoroughly sequencing his genome. He is known only through his medical case notes as GIT 264-1 but for the purposes of this tale, I'm going to call Baby T.
At a mere five months of age, Baby T was brought to hospital dehydrated and in poor health. In some ways, this wasn't surprising. His parents were blood relatives and they had suffered through two miscarriages and the death of one premature baby. Baby T himself was born prematurely at 30 weeks.
Baby T's family history suggested that he…