A karyotype showing all 22 pairs of human chromosomes, plus X and Y.
The Human Genome Project http://www.genome.gov/10001772 (HGP) celebrated its 10th anniversary on Sunday.
Like the Apollo program’s mission to put a man on the moon, the HGP had a singular, spectacular goal: Deciphering the exact order of the 3 billion genetic letters (the nucleotides A, T, G and C) http://en.wikipedia.org/wiki/Nucleotide that encode the “blueprint” for making a human – and perhaps more importantly, what ails him or her.
“All human disease is genetic in origin,” Nobel laureate Paul Berg has observed, and the last decade, thanks to the HGP, has gone quite a way to proving it. In 1990, when the HGP began, mutations in only 53 genes were known to cause disease; the number is now almost 3,000 with more found almost daily.
The HGP opened new and unexpected venues for research and launched untold numbers of studies and investigations, large and small. Tools like genome-wide association studies, which identify the thousands of genomic variations that can affect an individual’s predisposition to disease or its underlying pathology, would not be possible without the success of the HGP. Last year’s ENCODE consortium of more than 440 researchers in 32 international labs published a flurry of studies describing 4 million genomic regions (some previously dismissed as “junk DNA”) that may be regulatory switches that turn genes on and off.
As scientists have pieced together the incredibly complex fabric of our genes (and those of other organisms, from chimpanzees to sea urchins), they have applied that knowledge to real-life (and death) issues. For example, the hugely popular use of statins to lower cholesterol levels and reduce heart disease, for example, began as a pre-HGP investigation into a rare, hereditary condition called familial hypercholesterolemia.
With technological advances, the costs and time involved in genetic science have dropped dramatically. The first human genome cost $1 billion to sequence and took 13 years. These days, it’s less than $5,000 (and closing on the mystical $1,000 price tag) and takes just one or two days for a full sequence.
Medical science is already using personalized genome information as the basis for a variety of treatments, from cancer to hair loss. In the years ahead, your genes will likely instruct and inform your doctors about almost every aspect of your care.
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