Sunday, November 21, 2010

Our Genes Play an Enormous Role in Who We Are

An article on genetic mutations, how they shape who we are and how these mutations connect people.

"With technology that can now scan each of an individual’s 46 chromosomes for minute aberrations, doctors are providing thousands of children lumped together as “autistic” or “developmentally delayed” with distinct genetic diagnoses. The symptoms, they are finding, can be traced to one of dozens of deletions or duplications of DNA that were previously hard or impossible to detect."
...
"About one in 500 children are born with a chromosomal disorder, the geneticist, Dr. Alan Rope, told them. Such disorders are responsible for an unknown fraction of cases of mental retardation and autism as well as birth defects like a cleft palate or heart and kidney defects. Down syndrome, which occurs in individuals with an entire extra 21st chromosome in addition to the usual pair, is the most common, and the easiest to identify. But there were some 100 known disorders involving subtler duplications or deletions of pieces of chromosomes that were considerably harder to detect, Dr. Rope said. And he could test for only one at a time."

My two cents: we have only seen a tiny tip of the iceberg. Note that this article was published in December 2007. Today, you can have your genetic code analyzed for only a few hundred dollars from a company called 23andme. The Economist published an amazing special report on the human genome recently. It details the struggles, the accomplishments and the amazing potential applications to medicine. Genetic research is an area that will have incredible impacts that we can't even imagine yet. Much like when the first computer was invented several decades ago. Who could have imagined that a computer that was large enough to fill a gymnasium and could only do a few calculations every second would pave the way for modern-day gadgets like iPhones and supercomputers. This truly is an amazing time to be alive.

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