Our Human Genome

I read this month about an anniversary. It has been 20 years since a working draft of the human genome was published in the journal Nature. It was a draft, but it covered about 83 percent of the genome. The entire Human Genome Project (HGP) was completed in April 2003 which was about two years ahead of schedule.

The goal of the HGP was to sequence and map all the genes in the blueprint that makes up a human being. It was the largest single biological investigation in modern science.

It was expected that we would find that humans had more than 100,000 genes. That turned out to be wrong. We have only about 20,000 – 30,000. That is about the same as mice, and the genes themselves are mostly similar to mice and other mammals too, with only a few exceptions.

The HGP may be the highest-profile DNA sequencing project, but there are others that map the genomes of other organisms, like fruit flies, yeast, plants, and microbes.

When the project was starting, biotech companies hoped to be able to capitalize on the results. I’m glad that President Clinton declared in 2000 that the genome sequences could not be patented and that the results should be made available to the public. The human gene sequence is now freely available on the Internet. His decision didn’t help biotech stocks or their market capitalization, but open-sourcing science leads to more research and innovation.

What is a genome? It is an organism’s complete set of DNA (deoxyribonucleic acid) which is the chemical compound that contains the genetic instructions needed to develop and direct the activities of every organism.

The numbers are beyond my comprehension. DNA molecules are made of two twisting, paired strands and the human genome contains approximately 3 billion of these base pairs, which reside in the 23 pairs of chromosomes within the nucleus of all our cells. Each chromosome contains hundreds to thousands of genes, which carry the instructions for making proteins. Each of the estimated 30,000 genes in the human genome makes an average of three proteins.

The data is used in biomedical science, anthropology, forensics and other branches of science. Genomic studies have led to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution.

But the sequence of the human genome is still not yet fully understood. We still need to know more about the biological functions of their protein and RNA products.

If you are into Returns on Investment (ROI) as a sign of value,  a report on the economic impact of the project might interest you. From an initial investment of approximately $2.7 billion, the return, according to the report, has been about $800 billion.

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A lifelong educator on and off the Internet. Random by design and predictably irrational. It's turtles all the way down. Dolce far niente.

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