Guest post: It’s an exciting time to be studying human genetics

March 29, 2012 | Posted by Guest in Innovation Highlight |

This is a guest post by Mark Kaganovich, PhD candidate in Genetics at Stanford University and Founder of SolveBio (full bio below). 

It’s an exciting time to be studying human genetics.  Advances in genomic technologies mean that we are rapidly accumulating information about the genetic differences between individuals and across populations. But, how do those differences in A’s, C’s, T’s and G’s become the differences we see in physical traits or susceptibility to disease? The more we learn about modifications and regulation of DNA, RNA and proteins, the more complicated this question is to answer.

I am a doctoral student at Stanford University – I approach the study of genetic variation by integrating computational data analysis with experimental genomics. Essentially, that means we look across genomes, transcriptomes, and proteomes for patterns in the data, form hypotheses about what those patterns might mean functionally for a cell – and ultimately an organism – and then set out to test those hypotheses. The advent of technologies that generate large, informative data sets and the computational infrastructure to learn from the data means that we can generate meaningful hypotheses quickly. The pace of research depends on our ability to test our hunches and move forward to better understand the cellular mechanisms underlying our genomic/proteomic observations.

Setting up high-throughput experiments to confirm or reject computational predictions usually requires specialized equipment and expertise in scaling up individual experiments that no single laboratory can be expected to afford or master in a reasonable time frame.  So for us, collaboration is a natural avenue to explore. We have looked at working with core facilities and companies to do cell culture, microarray work, and sequencing when in-house lab or core facility capacity and scale cannot meet our needs. There are also methods that we are well set up to perform, but often need results sooner rather than later, so a company or core facility can help.

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