On Feb. 12, 2001, scientists at the Human Genome Project unveiled a bold undertaking nearly 20 years in the making: a first draft of the sequence of the human genome. This early translation—and its more complete version two years later—gave researchers the ability to finally read human DNA. Since then, the blueprint of around 20,000 cataloged genes has informed and transformed healthcare, making it possible for us to predict, diagnose, and treat genetic diseases like Alzheimer’s disease and multiple sclerosis more precisely than ever before.
However, there's been one final hurdle to overcome: decoding the entire human genome. The “finished” sequence published in 2003 only amounted to about 90 of the genome that seemed most vital at the time. Segments of that deciphered DNA (about 2 percent) encoded instructions for making proteins. But there was another 8 percent that appeared to be “junk”—repetitive sequences that seemed inconsequential—and went untranslated.
“We said it was done with a little asterisk way back in 2003,” Dr. David Valle, a geneticist at Johns Hopkins University School of Medicine who was an advisor to the project, told The Daily Beast.
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