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July 7th, 2010

The Human Genome Project, A Decade Later


Ten years ago, top scientists from around the world participating in the Human Genome Project declared that they had cracked almost the entire human genetic code (DNA), therefore essentially opening the “key of life.”

Ten years ago, scientists mapped the human genome in a feat that was called the most significant scientific discovery since evolution. Today, researchers continue to uncover secrets behind human DNA and how it functions.

Then-President Bill Clinton predicted the findings would “revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.”  It was hailed as the most significant scientific discovery since evolution.

The decade since has seen a number of advances, and hundreds of sites on the human genome have been linked with diseases, including various kinds of cancer.

But developing cures has proven difficult, and some researchers now believe that genetic mutations, or changes in our DNA, may not usually have a direct cause-and-effect relationship with disease.

“It’s one thing to scan through the genome and identify a pathway that seems to be involved in cancer. It’s another to take that information and come up with a magic bullet that you could give to a patient with leukemia or lung cancer to try to turn that around,” explained Dr. Francis S. Collins, who led the U.S. Genome Project and is currently the director of the National Institutes of Health.

Genes are patterns in our A, T, C and G

Because DNA is made of chemicals labeled A,T,C and G, the human genome map is a sequence of those letters.

The Human Genome Project actually began a decade before the human genome was mapped.  In 1990, the U.S. Department of Energy teamed up with the National Institutes of Health to identify all the genes in human DNA, store all information in databases, share key discoveries with the private sector and address any ethical, legal and social issues that arose during the project.

DNA is comprised of four chemicals, called bases and labeled A, T, C, and G. Different organisms, as diverse as animals, humans, plants, trees and mushrooms growing in the forest, are made up of the same chemicals, but in different patterns.

Human genomes have three billion pairs of bases which fall into about 23,500 identifiable groups called genes.  The patterns organize how our body works by spelling out “recipes” for making essential proteins that determine many things such as how we fight infections and repair damaged cells.

Even though a strand of human DNA is very small – about the size of a nematode worm — about 1/10,000 the width of a human hair — it is very complex and helps determine our unique characteristics such as skin complexion, eye/hair color, height and personality traits.

Breakthroughs in cancer, Alzheimer’s

Although project leader Collins admits that progress towards revolutionizing health care has been slow, the Human Genome Project has had several milestones over the past two decades. Scientists have identified specific genes that break down certain proteins which have been helpful in identifying the causes of diseases such as types of cancer and Alzheimer’s.

Breakthroughs have also occurred in developing new drugs and genetic tests for breast cancer patients.

Scientists were able to determine how genes are switched “on” and “off”, which could lead to preventative treatments for diseases inherited from your parents.

The entire human DNA sequence was first contained in a shelf of thick books. Today, it is easily accessible to researchers on computers.

What’s next?

While progress has been “slow,” Dr.  Collins says that “in another 15 to 20 years, you will see a complete transformation in therapeutic medicine” as more people have their DNA sequenced and applied to their medical records.

In the meantime, Collins points out that the project has empowered scientists beyond anything imagined in 1990.

“A graduate student working in biology today cannot imagine how you did research without having access to the sequence of the human genome. It is so fundamental. It’s something you’re looking at on your computer many times a day to guide your experiments. It is just the foundation of everything we do,” he explained.

–Compiled by Imani Cheers for NewsHour Extra

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