sequencing
edyong | March 11, 2010Not Exactly Pocket Science is a set of shorter write-ups on new stories with links to more detailed takes by the world's best journalists and bloggers. It is meant to complement the usual fare of detailed pieces that are typical for this blog.
Geneticist sequences own genome, finds genetic cause of his disease
If you've got an inherited disease and you want to find the genetic faults responsible, it certainly helps if you're a prominent geneticist. James Lupski (right) from the Baylor College of Medicine suffers from an incurable condition called Charcot-Marie-Tooth (CMT) disease, which…
razib | February 27, 2010Check out Dr. Dan MacArthur's assessment of the Pacific Biosciences presentation at the Advances in Genome Biology and Technology conference. Also check out Genetic Inferences take on AGBT (yes, they're really original with catchy blog names at the Sanger Institute!). In any case, a friend of mine was raving about Pacific Biosciences a few months ago, so I assumed it would blow up soon.
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…
edyong | February 12, 2009This is the eighth of eight posts on evolutionary research to celebrate Darwin's bicentennial.
In Virginia, USA, sits a facility called the American Type Culture Collection. Within its four walls lie hundreds of freezers containing a variety of frozen biological samples and among these, are 99 strains of the common cold. These 99 samples represent all the known strains of the human rhinoviruses that cause colds. And all of their genomes have just been laid bare.
Ann Palmenberg from the University of Wisconsin and David Spiro from the J. Craig Venter Institute have cracked the genomes of all…