Scientists publish first sequence of human genome
By Patricia Reaney
LONDON, Feb 11 (Reuters) - Scientists will publish the initial sequence of the human genome on Monday in a breakthrough
that promises to revolutionise the understanding and treatment of diseases.
The sequencing of 3.1 billion letters of DNA show humans are made up of about 30,000-40,000 genes, considerably fewer
than earlier estimates of 60,000-100,000 genes, and only about twice as many as the earthworm and fruitfly.
Scientists say identifying all the genes and what they do will herald a new age in science and medicine, vastly expanding human
knowledge and accelerating the diagnosis and treatment, as well as potential preventions and cures, for disease.
``It is going to revolutionise science and medicine,'' Tim Hubbard of the Sanger Centre in Cambridge, England who worked on
the project, told Reuters.
``Everything about us is in the sequence.''
The Human Genome Project, the publicly funded international collaboration of 20 groups of scientists from the United States,
Britain, Japan, France, Germany and China, completed the working draft of the human genetic code in June.
All the information has now been arranged and is published in the scientific journal Nature with a dizzying array of reports,
maps and analysis to explain what it all means.
Celera Genomics Inc (NYSE:CRA - news), of Rockville, Maryland, the privately owned company which raced to produce the
first draft, reported their findings in the journal Science.
EARLIER DIAGNOSIS, DESIGNER DRUGS
The sequence is just the beginning and will not be fully finished for several years but it is already revealing its secrets -- far fewer
genes, where they come from, the complexity of proteins and what makes us different from other organisms.
Genes comprise only a tiny fraction of human DNA but they represent the major biological function of the genome. They are
also the most challenging feature to identify in the genome. Ultimately researchers hope to compile a complete list of all human
genes and the proteins they encode to aid scientists in biomedical research.
The biggest initial impact of the human genome is expected to be on drug development, customising drugs to individual genetic
profiles and earlier diagnosis of disease.
Currently there are fewer than 500 targets for all the drugs on the market. Scientists predict the sequencing will increase that
number to several thousand, sparking a boom in genomic research in the pharmaceutical industry.
``There are potentially a huge number of targets that can be investigated for potential drugs. There is also the personalisation of
medicine,'' Hubbard said.
He likened the human genome to an automobile manual used by mechanics to determine what is wrong with a car that isn't
running properly.
``We're going to provide doctors with much more powerful tools to diagnose exactly what is wrong with somebody.''
SPOT THE DIFFERENCE
The sequence has already allowed scientists to identify 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.
The Human Genome Project has moved rapidly since the working draft was announced in June and the scientists have closed a
number of gaps. But they stressed that much remains to be done to produce a finished sequence and the rewards will not be
reaped overnight.
``Fulfilling the true promise of the Human Genome Project will be the work of tens of thousands of scientists around the world,
both in academia and industry,'' the scientists said in the Nature report.
They also warned that along with its great promise the sequencing has serious legal, ethical and social implications.
``Understanding and wisdom will be required to ensure that these benefits are implemented broadly and equitably,'' they added. |
