in-depth write-up on Nic Volker, the young boy with a incredible story of disease and recovery based in next-generation sequencing. George Church, pioneering the Harvard/MIT geneticist, briefly cited this [at that time anonymous] case in his evening keynote back at the Harvard BioMed HPC Summit in October 2010.
Even without the cutting edge science that finally identified the mutation that was the basis for Nic's disease, it's an incredible story - the young boy survived just about every horror you can imagine - multiple bouts with sepsis, chemo, hundreds of surgeries, encephalitis.
The feature goes on to provide an update that suggests that Nic's case may be the leading edge of a wave moving across genetic medicine. While sequencing is a long ways from a miracle cure for huge percentages of diseases, the victories, few as they are, are exciting.
UPDATE 6/28/11 - Another similar story just came through of California twins with a rare condition that wasn't responding to treatment until their genomes as well as the genomes of their older brother, parents and grandparents were sequenced. It's an incredible story, and while this kind of approach is currently beyond the reach of many (~$10K per genome), the cost is falling at roughly 5X per year, putting into reach of routine medicine within several years.