Hunting Disease Origins By Whole-Genome Sequencing

ChocSnorfler writes "James Lupski, a physician-scientist who suffers from a neurological disorder called Charcot-Marie-Tooth, has been searching for the genetic cause of his disease for more than 25 years. Late last year, he finally found it — by sequencing his entire genome. While a number of human genome sequences have been published to date, Lupski's research is the first to show how whole-genome sequencing can be used to identify the genetic cause of an individual's disease."

Comments

That was the Amphetamine typing, I'm afraid

[MichaelCrawford]

Were I not taking several doses of powerful stimulants each day, I probably would have interrupted myself in the middle to go roller skating or something.

Stimulant treatment for ADHD gets a bad rap. It's commonly said that we are drugging our children just to get them through school. It's not that way; ADHD is treated with stimulants because they boost certain neurotransmitters in a way that overcomes most of the illness' debilitating effects. People with ADHD don't generally get high when we take stimulants. In my case, taking Amphetamine calms me down and enables me to write code productively. When my medicine is working particularly well, it gives me a rather lethargic, calm and almost sedated experience - during which I am able to write mountains of code.