131 Human Genome Project

The Project

(HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint. It remains the world's largest collaborative biological project. Planning started after the idea was picked up in 1984 by the US government, the project formally launched in 1990, and was declared complete on April 14, 2003. It was funded by the National Institute of Health and the Dept of Energy.

The sequencing of the human genome holds benefits for many fields, from molecular medicine to human evolution. The Human Genome Project, through its sequencing of the DNA, can help us understand diseases including: genotyping of specific viruses to direct appropriate treatment; identification of mutations linked to different forms of cancer; the design of medication and more accurate prediction of their effects; advancement in forensic applied sciences; biofuels and other energy applications; agriculture, animal husbandry, bioprocessing; risk assessment; bioarcheology, anthropology and evolution. Another proposed benefit is the commercial development of genomics research related to DNA based products, a multibillion-dollar industry.

The Process

The process of identifying the boundaries between genes and other features in a raw DNA sequence is called genome annotation and is in the domain of bioinformatics. While expert biologists make the best annotators, their work proceeds slowly, and computer programs are increasingly used to meet the high-throughput demands of genome sequencing projects.

Beginning in 2008, a new technology known as RNA-seq was introduced that allowed scientists to directly sequence the messenger RNA in cells. This replaced previous methods of annotation, which relied on the inherent properties of the DNA sequence, with direct measurement, which was much more accurate. Today, annotation of the human genome and other genomes relies primarily on deep sequencing of the transcripts in every human tissue using RNA-seq. These experiments have revealed that over 90% of genes contain at least one and usually several alternative splice variants, in which the exons are combined in different ways to produce 2 or more gene products from the same locus.

Holy Crap Thinking

Tackle the toughest problems.

Collaborative Thinking

Willing to delve into delicate issue where you don’t know the outcome. (Do we dare mess with genetics?) 

Holy Crap Quote:

 “Ever so often in the history of human endeavor, there comes a breakthrough that takes humankind across a frontier into a new era. ... today's announcement is such a breakthrough, a breakthrough that opens the way for massive advancement in the treatment of cancer and hereditary diseases. And that is only the beginning.” Tony Blair, Former Prime Minister of England

Holy Crap Challenge:

Every episode we challenge you to Think Bigger, Reach Higher, and Do the Impossible.

For all of history up until the HGP, mapping the genome was impossible. But they did it.

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