Scientists Complete Human Genome Sequence

LONDON (Reuters) - Scientists have completed the finished sequence of the human genome, or genetic blueprint of life, which holds the keys to transforming medicine and understanding disease.

Less than three years after finishing the working draft of the three billion letters that make up human DNA and two years earlier than expected, an international consortium of scientists said on Monday the set of instructions on how humans develop and function is done.

"We put out the draft sequence as a way of getting it out to scientists as quickly as we could. It gives them something to work with and get going, but the aim was always to generate a reference sequence for the human genome," Dr Jane Rogers, head of sequencing at the Wellcome Trust Sanger Institute, said.

"It's a bit like moving on from a first attempt demo music tape to a classic CD."

The Human Genome Project has already aided scientists in discovering a mutation that causes a deadly type of skin cancer and accelerated the search for genes involved in diabetes, leukemia and childhood eczema.

The completed sequence will help scientists to identify the 25,000-30,000 genes in humans, including those involved in complex diseases such as cancer and diabetes.

Researchers from 120 countries have downloaded information which has been freely available on the Internet since the rough draft was announced in June 2000.

"We shouldn't expect immediate major breakthroughs but there is no doubt we have embarked on one of the most exciting chapters of the book of life," Professor Allan Bradley, director of the Wellcome Trust Sanger Institute, said in a statement.

Scientists in the United States, France, Germany, Japan and China have also worked on the publicly-funded Human Genome Project.

The human genome has already revealed some of its secrets. There are far fewer genes than scientists had expected and proteins, which build tissues and regulate the body's function, are much more complex than they thought.

"The nematode worm has about 17,000 genes, so we haven't really got very many more than a small worm. But we manage to construct a great variety of proteins from those genes. Understanding how that happens is the next challenge," Rogers said.

The finished sequence is expected to spark a boom in genomic research in the pharmaceutical industry and to underpin biomedical research in the coming decades.

New treatments, customized drugs to individual genetic profiles and earlier diagnosis of disease are expected to be among the initial benefits of the human genome sequencing.

Scientists have already identified more than 1.4 million SNPS, single nucleotide polymorphisms -- variations in the three billion letters of the human genetic code.

SNPS are single changes in the arrangement of those letters that make people different. They hold the key to susceptibility to illnesses such as cancer, diabetes and heart disease and individual responses to medication.

By looking at different subsets of the genome of several people and comparing the results, scientists hope to identify specific DNA variations that cause propensity for a certain disease as well as its genetic basis.

"Completing the human genome is a vital step on a long road but the eventual health benefits could be phenomenal," Bradley said.

BBC NEWS
Human genome finally complete
By Ivan Noble
BBC News Online science staff
The biological code crackers sequencing the human genome have said they have finished the job - two years ahead of schedule.

Their announcement came less than three years after a "rough draft" was published to worldwide acclaim.

When UK Prime Minister Tony Blair and then US President Bill Clinton hailed the publication of the draft in June 2000, 97% of the "book of life" had been read.

The decoding is now virtually 100% complete. The remaining tiny gaps are considered too costly to fill and those in charge of turning genomic data into medical and scientific progress have plenty to be getting on with.

The Wellcome Trust Sanger Institute, the only British institution taking part in the international effort, completed almost a third of the sequence - the biggest contribution by a single institution.

Its director, Professor Allan Bradley, said that completing the human genome was a vital step on a long road, but that the eventual health benefits could be phenomenal.

"Just one part of this work - the sequencing of chromosome 20 - has already accelerated the search for genes involved in diabetes, leukaemia and childhood eczema.

"We shouldn't expect immediate major breakthroughs but there is no doubt we have embarked on one of the most exciting chapters of the book of life," he said.

High standards

American institutions have been the major partners in the decoding programme.

THE DNA MOLECULE
The double-stranded DNA molecule is held together by chemical components called bases
Adenine (A) bonds with thymine (T); cytosine(C) bonds with guanine (G)
These letters form the "code of life"; there are about 2.9 billion base pairs in the human genome wound into 24 distinct bundles, or chromosomes
Written in the DNA are 30,000-40,000 genes which human cells use as templates to make proteins; these sophisticated molecules build and maintain our bodies
Dr Francis Collins, director of the National Human Genome Research Institute, US, also pointed to the long-term gains that would come from the information.

"One of our projects is to identify genes that predispose to type II diabetes.

"This disease affects about 1 in 20 people over 45 and its incidence appears to be increasing. Using freely available map and sequence information [we] have been able to close in on the likely gene on chromosome 20 that is altered in type II diabetes."

When the Human Genome Project was formally launched, there were some who thought it could take 20 years or more to complete. But robotics and supercomputers speeded up the process hugely.

And it is arguable that competition from a privately funded company, Celera Genomics, which produced a rival sequence, hastened the end stages of the project as well.

The purpose of the last three years has been to fill in gaps in the DNA sequence and "proof read" the data to produce a "gold standard" that will inform genetic research for years to come.

Dr Jane Rogers, head of sequencing at the Sanger Institute, said: "We have reached the limits we set on this project, achieving tremendously high standards of quality much more quickly than we hoped.

"The working draft allowed researchers to kick-start a multitude of biomedical projects. Now they have a highly polished end product which will assist them even more.

"It's a bit like moving on from a first-attempt demo music tape to a classic CD," she said.

Knowing virtually the entire sequence of the roughly three billion letters of genetic code in our DNA gives scientists the chance to explore everything that is genetically determined about our lives.

Sir John Sulston, who ran the British end of the project for much of its history, said earlier in April that researchers would "go on mining the data from the human genome for ever".

Identifying genes can now be done in days instead of years. But for medicine, the real challenge is to move from knowing which malfunctioning gene or genes cause a particular condition to knowing how to do something about it.

For this, they will need to understand better how the proteins - the sophisticated molecules which cells make from the gene "templates" - interact to build and maintain our bodies.

The science of genomics may be well established but the science of proteomics is still in its infancy.

There is, as Professor Bradley said, "a long road" to travel.

Story from BBC NEWS:
http://news.bbc.co.uk/go/pr/fr/-/2/hi/science/nature/2940601.stm

Published: 2003/04/13 22:59:43

© BBC MMIII

The Human Genome Project is not about individual DNA patterns.

It is a map of all humans and the DNA sequences that MAKE us human, and in turn, the various individuals that we are.
The "individualizing" sequences of which you speak (write) are the variations in the markers that determine hair, eye, skin color, height, etc.
They are also the markers that determine susceptibility to disease, deformations, mutation, etc.

But they are not the goal of the project.
We want to know what makes us, us, generally speaking, and then what changes to those markers makes us who we are individually.

I have the greatest of hopes for this project.
There may come a day, in the distant future, that a complete knowledge of human DNA and how to manipulate it to our benefit, may make the difference between our ability to colonize a planet or not.
( My science fiction persona speaking out! )

Likewise, someday, humanity free of inherited conditions or disease, with the ability to repair or replace ANY damaged limbs or organs without rejection concerns.
The possibilities are endless.

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