Scientists unveil secrets of human genome
By Patricia Reaney
LONDON (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, and only about twice and 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 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 Untied 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, 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 specify 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.
Level 1
Reading
Newspaper Article
Read the article and answer the questions
Part 1 Scanning
The following statements are either true, false, or there is not enough
information. Answer T, F, or NI
1.
Humans are made up of up to 100,000 genes
_________
2.
Tim Hubbard works in Cambridge
_________
3.
‘Nature’ is a monthly scientific journal
_________
4.
Celebra Genomics reported their findings in ‘Nature’
_________
5.
There are less than 500 targets for all the drugs
on the market at the moment
_________
Hubbard compared the human genome to an
automobile manual
_________
7.
SNPS means single nucleotide polymorphisms
_________
8.
The Human Genome project says that only a little
work remains to produce a finished sequence
_________
Sequencing has serious implications
_________
6.
9.
Part 2
Answer these questions briefly
10.
Who wrote this story?
___________________________________________________________
11.
How many groups are there in the Human Genome Project?
___________________________________________________________
12.
Is Celera Genomics privately or publicly owned?
13.
How many SNPS’s have been identified?
14.
When did the Human Genome Project announce its working draft?
Part 3
Vocabulary
Choose the best meaning for each word
15.
sequencing
a)
c)
16.
b)
d)
making bigger
working together
putting in order
possible
b)
d)
making bigger
working together
putting in order
possible
b)
d)
making bigger
working together
b)
d)
making quicker
making more difficult
b)
d)
apart
widely
accelerating
a)
c)
20.
putting in order
possible
potential
a)
c)
19.
making bigger
working together
collaboration
a)
c)
18.
b)
d)
expanding
a)
c)
17.
putting in order
possible
making slower
making easier
equitably
a)
c)
unfairly
fairly