April 2014 marks the 11th anniversary of the completion of the Human Genome Project. A 13-year undertaking costing $3 billion, the Human Genome Project offers a glimpse into a person's DNA makeup that determines everything from a person's appearance, such as eye color or skin tone, to genetic disorders, like hemophilia or color blindness.
DNA, as we learned in junior high biology, stands for deoxyribonucleic acid. This chemical compound, composed of intricate series of alpha-abbreviated nucleobase A, T, G and C, is the road map to our being; it contains precise instructions used for the development and function for every living creature on Earth, from humans to an oak tree to the Hepatitis C virus.
Technology behind sequencing a human genome has advanced leaps and bounds within the last decade to the point that it's a readily attainable for those seeking the service. A person's genome can be deciphered in a mere one to two days -- less time it takes to mail a letter to a neighboring state. And though not necessarily chump change, this process can be completed for less than $5,000.
"Though the average person will likely never have their genome sequenced, this facet of science is critical for developing new medical drugs and administering current ones. Based on genomic information, certain drugs are more effective or have select side effects in populations with certain genetic disorders," says Richard Schumacher, CEO of Pressure BioSciences, Inc., a life sciences company that develops genomic instruments that feature leading platform cycling technology.
Just recently, scientists announced that a genetic liver disease caused by a mutation in the FAH liver gene had been cured in living, adult animals using highly precise, groundbreaking genome-editing technology. Using Crispr technology combined with Cas9, a DNA-snipping enzyme, scientists at Massachusetts Institute of Technology (MIT) were able to isolate and correct a single DNA letter, hence editing the entire genome for the mice.
"This study was successful in mice, who bear much similarity to humans for this specific disease and circumstance, so it shows promise for future medical advancements and therapies based on genomic research," says Schumacher.
Defining the human genome 11 years ago set the stage for the future. Real-world applications in genomics, similar to this recent MIT study, may be several years off, though it's just the tip of the iceberg.
"Mark Zuckerberg's character in The Social Network likened Facebook to fashion by claiming both are never finished. Such is true with the discoveries that can be gleaned from researching genomics," adds Schumacher.