In the words of Olivia, we’re dusting cobwebs off our brains. We’re also filling in our planners and gearing up for Round II.
Let’s start off the New Year with a DNA success story. For six-year-old Nicholas Volker, DNA sequencing was used to help diagnose deadly intestinal inflammation. Nicholas underwent a bone marrow transplant using umbilical cord blood. He is now doing well, and “the treatment seems to have worked.” Here’s the link to the full story.
It is stories like this that help push genetics beyond just diagnosis and management of disease, and demonstrate how we are continually doing work towards the ideal of diagnosis and treatment.
Here are a couple cool genetics points from Nicholas’ story:
DNA sequencing capabilities – Nicholas’ doctors used the 454 Life Sciences device for whole exome sequencing. The medical facility has since purchased the HiSeq from Illumina, which should get the job done more cheaply for future patients.
Investigating unknown variants – “Unknown variants” are tricky little buggers, because you don’t know what to do with them. Except that, in some cases, they might just explain what’s going on. I didn’t look into how they made the correlation between the mutation and the intestinal problems, but suffice it to say that the “unknown” mutation shed light on how to save a life.
Umbilical cord blood – This seems to be an upcoming trend, using your own cord blood to save your own life. It’s a more noncontroversial source of stem cells, and companies are beginning to aggressively market cord blood banking services. And by “aggressively marketing,” I mean that you can actually buy gift cards, develop a payment plan, and earn money by referring your friends. Here’s an example.