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This month marks the 10 - year day of remembrance of the Human Genome Project , a 13 - year external effort to determine the succession of the 3 billion " alphabetic character " in a human being ’s deoxyribonucleic acid .
The $ 3 billion project , take by the U.S. Department of Energy and the National Institutes of Health , set out in 1990 and was completed on April 14 , 2003 . In the decade since then , scientists have achieved many important milestones in using genomic discoveries to advance medical noesis .
sequence engineering has vastly amend in recent geezerhood . Sequencing the firsthuman genomecost about $ 1 billion and took 13 years to complete ; today it cost about $ 3,000 to $ 5000 and takes just one to two mean solar day .
dig into genome role
But just knowing the sequence would be meaningless without a way to interpret it . So researcher found way to study the genome ’s routine , by sequence the genome of 135 other organisms and surveil the global variation among human genome . [ Unraveling the Human Genome : 6 Molecular Milestones ]
Researchers liken thegenome sequences of other animals , such aschimpanzeesand Ornithorhynchus anatinus , as well as other eurkaryotic organism ( those whose cells have a lens nucleus ) , such as yeast and flat worm . From this compare , scientist could identify stretches of DNA that have remain mostly unchanged over the course of evolution . Five to 8 percent of the human genome has been unaltered for thousands of age .
One of the more surprising findings is how little of the human genome ( only 1.5 percent ) in reality encodes protein , the molecular building blocks that perform most of the critical purpose inside cellphone .
To examine this mystery , more than 400 researchers from 32 labs worldwide make the ENCyclopedia Of DNA Elements ( ENCODE ) consortium . In 2012 , they published many important finding about how the human genome functions . These include placement in the genome that may be genetic " switches " to turn genes on and off , as well as demonstrating that more than 80 percent of the genome that was once telephone " junk DNA " actually does do a function .
Other enquiry has focused on assess the variation among human genomes . Preliminary studies during the Human Genome Project indicated that human genomes differ by just one - tenth of a percent . Investigating the limited variation that does exist is key to read human health and disease .
In illness and in wellness
The first catalog of human genome variance was the InternationalHapMap Project , which compared the genomes of masses from Europe , China , Japan and Africa . Biotech companies have used finding from this undertaking and its follow - on , the 1000 Genomes Project , to study population with and without disease , in the Leslie Townes Hope of identifying hereditary variants relate with disease . Such genome - wide association studies have result in the identification of thousands of variants that can act upon a person ’s likelihood of develop a disease .
As a result of these study , the U.S. Food and Drug Administration now requires that the label of more than 100 drug admit data about certain genetical markers , so physician can tailor-make their prescriptions base on a patient ’s genetic makeup .
In the 10 years since the Human Genome Project was fill in , researchers have made big strides in using genomic information in diagnose and treating cancer . For instance , the breast cancer drug trastuzumab ( Herceptin ) only shape for woman with tumor of a sure type have it away as " HER-2 confirming . " Similarly , the lung Crab drug gefitinib ( Iressa ) is only effectual for affected role whose tumor have so - squall " EGFR " mutation .
Mutations in only 53 genes were link to disease when the genome labor began , whereas more than 2,900 genes are today .
But scientists have a long elbow room to go in understand the human genome and how it can be used for better human wellness . The wage increase of personalized genomics and changes in the ways wellness entropy is call for and used are prompting a new era in practice of medicine , which brings both challenge and opportunities .
