The complete sequence of the human genome is a powerful tool in disease-association studies. In her time at Broad, Whitney Green worked with her colleagues on two candidate gene studies, but with different strategies and approaches. In the first study, the scientists looked for common variations in the Protein Kinase C/zeta (PRKCZ), alterations of which have been implicated in Type 2 Diabetes. In this study, variation was assessed by defining the linkage disequilibrium and haplotype structures of the PRKCZ gene region.
The second study, evaluating the association of 11 candidate genes with obesity, took another approach. In this case, the researchers undertook resequencing of the coding regions of genes in DNA from affected individuals (obtained from an earlier study done at Loyola University Chicago). The goal was to assess the presence of rare genetic variations as contributory factors to a common disease, in this case obesity.
Although data are still being analyzed, Whitney's work underlines the critical role of a conceptual approach in common, complex disease-association studies, even though all approaches use available information from the genome sequence.
The part of the program that has had the biggest impact is the lab work and the journal clubs. In the lab, you get to work on your project but oftentimes you are confused about what you are doing. The journal club strengthens your background in genomics and helps you to better understand your project and think about it more critically