Human genetics

Recently I attended the Broad Institute Retreat and a local symposium on human genetics with many talks covering the latest genome-wide association studies of human diseases (e.g. autism, multiple sclerosis), further reinforcing my developing belief that the era of personal genomics is arriving, and at a much faster pace than I had anticipated. Several companies have started offering services to provide personal genetic information to individuals (e.g. 23andme, Navigenics); see the latest coverage in the New York Times. Projects are underway to fully sequence 1000 individual human genomes (check out the Venter and Watson genomes, the first two personal genomes sequenced by Venter's institute and 454, respectively). George Church, a professor at Harvard, and his team are gearing up to sequence the coding portion (i.e. the ~1% in the human genome that is coding for proteins) of many more individuals while collecting diverse phenotypes at the same time; the main goal is to link genes to traits.

While linking genes to traits has been going on for decades in the field of genetics, the ability to do it across the entire human genome only became a possibility in the past several years. A major challenge is to accurately communicate the results of these and future studies to the public. As a motivation to read more papers in the area, I will start to blog on human genetics. I will start from the basics, e.g. DNA, chromosomes, genetic variations, how association studies are designed, etc; and discuss the results and implications of the latest studies. I hope this exercise will further educate myself and my readers. Stay tuned!