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When the U.S. Human Genome Project announced in 2003 that it had sequenced the entire human genome identifying the approximately 22,000 genes found in human DNA and sequencing the 3 billion chemical base pairs that make up our DNA headlines touted the achievement as the “book of life.” But what seemed to many like the finish line of a 13-year race (the effort to sequence the genome began in 1990) was, in fact, only the starting line.
Understanding human genetics and the role our genes play in disease and wellness using the sequenced human genome is a little like planning an extended, cross-country tour of the United States using only a large wall map. You can see the major cities, what states they are in, and where they are located relative to one another. But you don’t know much about many of those cities, the highways that connect them, or where you might want to go and what you might do once you get there. You know that there are oceans near Los Angeles and mountains near Denver, but what’s in Dubuque, Paducah, and Grants Pass?
Now that we have the “wall map” created by sequencing the human genome, we must understand how these genes interact, how they are turned on and off or instructed to increase or decrease their activity, and how that affects the proteins for which they code. That is a vastly more daunting task although there are just 22,000 genes, more or less, in the human genome, they code for about 400,000 proteins.
Research over some 50 years since the day in 1953 when Francis Crick and James Watson walked into a Cambridge pub and announced that they had found “the secret of life” by determining the structure of DNA has identified a number of single genes, their protein products, and the inheritance patterns behind single-gene disorders like Huntington’s disease and hemophilia.
But understanding how multiple genes and proteins interact with our environment to cause human disease and how we can intervene in this process to treat and even cure those diseases will now be the critical challenge, and an enormous one it is. It brings together basic and translational research, chemistry, physics, biology, and computer engineering to a vast undertaking whose methods include everything from using microarrays to analyze mRNA expression patterns to using robotic instruments to streamline the determination of thousands of protein structures.
Columbia is one of the institutions at the forefront of this international effort, following a landmark year in which three major new centers have been established to advance the next generation of genomics and proteomics research. These centers the National Center for Multi-Scale Analysis of Genetic and Cellular Networks, a Molecular Libraries Screening Center, and the New York Consortium on Membrane Protein Structure are all funded by major grants from the National Institutes of Health and will complement the extraordinary investments being made in disease-specific gene and protein research conducted throughout Columbia.
Genomics and proteomics may sound like fields that belong primarily at the lab bench, but every day at Columbia, our growing foundation of basic science knowledge about these once-mysterious realms is being translated into new possibilities for treatment and avenues for prevention. From cancer to Alzheimer’s disease, from diabetes to obesity, from cardiovascular disease to mental illness virtually every condition we care for here at Columbia has a genetic component.
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