The Human Genome Project

‘The human genome is the holy grail of biology.’ Washington Post, US, 1988

'Of all the truly great projects of science, it is HUGO that offers the most. At HUGO's £2 billion-budget heart is a painfully slow description of the entire DNA code of Homo sapiens. It may sound dull compared with the space race, but it will be as important to the people of the 21st century as the petrol engine has been to us.' The Times, 1989, UK 

‘In the next 15 years, detailed analysis of the structure of this chemical [DNA] is going to change the face of medicine fundamentally", wrote "The human genome sounds like a mad scientist's fantasy. So does the Channel Tunnel, but I can assure you that work is in progress on both projects.’ Dr John Collee, The Observer,1992

‘The idea of sequencing the entire human genome was first proposed in discussions at scientific meetings organized by the US Department of Energy and others from 1984 to 1986. A committee appointed by the US National Research Council endorsed the concept in its 1988 report, but recommended a broader programme, to include: the creation of genetic, physical and sequence maps of the human genome; parallel efforts in key model organisms such as bacteria, yeast, worms, flies and mice; the development of technology in support of these objectives; and research into the ethical, legal and social issues raised by human genome research. The programme was launched in the US as a joint effort of the Department of Energy and the National Institutes of Health. In other countries, the UK Medical Research Council and the Wellcome Trust supported genomic research in Britain; the Centre d'Etude du Polymorphisme Humain and the French Muscular Dystrophy Association launched mapping efforts in France; government agencies, including the Science and Technology Agency and the Ministry of Education, Science, Sports and Culture supported genomic research efforts in Japan; and the European Community helped to launch several international efforts, notably the programme to sequence the yeast genome. By late 1990, the Human Genome Project had been launched, with the creation of genome centres in these countries. Additional participants subsequently joined the effort, notably in Germany and China. In addition, the Human Genome Organization (HUGO) was founded to provide a forum for international coordination of genomic research.’  HYPERLINK "" \l "International Human Genome Sequencing Consortium" International Human Genome Sequencing Consortium, Nature, 2001

‘Background to the Human Genome Project - The Human Genome Project is an immense enterprise. The idea of sequencing the entire human genome was first proposed by biomedical researchers in the mid-1980s, only a few years after the Sanger method of sequencing DNA had been developed. Two organizations in the United States took up these proposals: the first organization was the Department of Energy, which was interested in finding out more about the damage caused to DNA by radiation. The second was the National Institutes of Health, which receives money from the US government to give to medical research projects. By October 1990, these two organizations had put together a plan to begin sequencing the human genome. Work in the United Kingdom focused initally on mapping the human genome but, in 1992, the Wellcome Trust and the Medical Research Council agreed to fund sequencing on a larger scale. This led to the establishment of the Sanger Centre.’

What is the Human Genome Project?  ‘The Human Genome Project, which began officially in 1990, is the largest international collaboration ever undertaken in biology. The immense task of sequencing the 3 billion bases of genetic information that resides in every human cell has involved thousands of scientists. The nucleotide sequence of the human genome will allow researchers to identify human genes, assisting our understanding of the genetic basis of disease and of the key biochemical and developmental processes of the human body.  The project is being undertaken by the Wellcome Trust funded Sanger Institute in the UK, US laboratories funded by the National Human Genome Research Institute (NHGRI) and the US Department of Energy, and several other centres worldwide.  The most surprising discovery 2001 was that humans have only about 30 000 genes; many people had expected humans to have about 100 000 genes. Robotics and supercomputers have speeded up the sequencing of the human genome.’ Wellcome, 2003

‘We will endeavour to read the genetic map of mankind’,

they said, joining hands, shrinking the globe - but read on

to the great Battle of Public versus Private camps; an epic

struggle for the Genome’s very soul - to paint her as a bird

in air, free - or locked in a golden cage; pay-to-view, study.

For now it is a tale of highest science - co-operation, global

brotherhood of science; of what can be achieved with peace

and technology harmonised; in knowledge pursued for good.

But our heroes are already putting on their white uniforms -

though colours in the conflict are not so clearly seen as yet;

pound, dollar signs, printed like the branding skin of leopard,

tiger - or true transparency of pure, neutral discovery shared -

being fought over for the common good; that beautiful notion

of real humanity as the collective animal he is, now revealed -

in the heart, notion of cells; unraveling secrets faster yet faster,

deciphering the mountain pebble by pebble - but rebuilding

contours, geography, the fabulous landscape; understanding

the closed heart of stone by breaking, peering – by mending

reality into the pictorially familiar, everyday human being -

his surface written smoothly, so seamlessly stitched in time.

‘Meanwhile, another project was quietly gathering momentum. In December 1993, the Telegraph noted that a French genetic map of the genome was being made public 'through Internet, a computer network that connects scientists around the globe'.’ Wellcome Trust

What is the Human Genome Project?The Human Genome Project (HGP) is an international effort to decode all the letters in our chromosomes. The letters, called bases, are strung out in long molecules called DNA and it is the order or sequence of those letters that is the key. In the HGP researchers are using modern techniques to write down, in the correct order, the three billion letters that make up our DNA. Within this vast sequence are the instructions for making a person and clues to what can go wrong in disease.

What is the Human Genome Project for? In our DNA (the chemical that makes up our chromosomes) are the instructions to make a human being, but coded into the DNA sequence. There a four letters in this code, called bases, and it is the order of these bases that encodes the information. Our DNA is three billion letters long, and within that huge sequence are the instructions for making a human being. The instructions are converted into proteins, each of which is described by a gene. We have perhaps as many as 50,000 genes and the task of the HGP is to read these instructions and to provide that information to researchers worldwide completely without restriction and completely for free. In fact the HGP releases all the information it produces each night onto the internet, to ensure that researchers can have access to the information as quickly as possible. The data are used by researchers to understand disease, to gain new knowledge of how we work and to look for new treatments. The Human Genome Project formally began in 1990. The sequencing of the human genome was expected to take 15 years, ending in 2005.

How large is the human genome sequence going to be? Our genetic code consists of slightly more than three billion (3,200,000,000) letters (bases) distributed among our 23 pairs of chromosomes. If this were printed as pages in a paperback book (typically, 2800 letters per page), it would take about one million pages, or about 5000 books, or a stack of books 70 m (220 feet) high. Of course, modern technology means that, if we compress the sequence data in a computer, it will fit on an ordinary CD.

Where can I download the human genome sequence from?The Human Genome Project (HGP) places human DNA sequence in the public domain every night. Many sites around the world have copies of the sequence. The main databases are held by:  HYPERLINK "" The DNA Data Bank of Japan - DDBJ;  HYPERLINK "" The European Bioinformatics Institute;  HYPERLINK "" GenBank

Whose DNA is being sequenced?The DNA that is being sequenced comes from anonymous donations made in the USA. A number of people gave a sample of their DNA. Several samples were chosen at random from the selection and these went on to be sequenced. It is not actually one person's DNA that is being sequenced but in fact the DNA of several individuals, the identity of whom is completely unknown. Everyone's genome sequence has variations. In fact, each of us has two genomes - we inherit one from our father and one from our mother. The Human Genome Project sequence will provide a reference sequence that will provide an outline of everyone's genome. Obviously we all have a great number of genes in common, for example, the majority of people share the gene that codes for insulin or the gene that codes for haemoglobin. Everyone also has various individual differences in their DNA code. These differences are known as single nucleotide polymorphisms (SNPs). There are several projects underway around the world that aim to identify and to map individual differences to specific regions of DNA.

Where does the money come from? The project is funded either by the national governments of participating countries or by private charities. The Sanger Institute is funded by the Wellcome Trust; the world's largest biomedical charity whose mission is to improve human and animal health worldwide. The Human Genome Project was seen as a good example of work to support researchers worldwide…When the HGP started, the cost of 'reading' a single base in the three billion human sequence was between $1 and $10, depending on the size of the laboratory. Today it is on the order of 10-20 cents per base. The progress across each chromsome can be seen at the UK websites for the  HYPERLINK "" Sanger Institute, or  HYPERLINK "" the EBI site, or at the US  HYPERLINK "" National Centre for Biotechnology Information website.’ All Q&As,

Olympian endeavour

An Olympian endeavour -

decoding the human being,

writing of life;

a hidden script

translating flesh,

embryo and eye,

into chemical letters.

Holy unsung strings -

waiting through history,

oblivious to discovery -

but primed to be discovered

by its own creation of genius.

What act and work -

driven in laboratories,

not churches - fuggy

with history, smokey

with mystery still,

smelling of stones;

but the white world of science,

bright computers - as the sick

who want earth and flowers;

dimness, sleep, ghost homes,

are pinned to bleach-bright sheets -

facing the dawn squad of medicine

and tea in terrible, spiritless big rooms.

This book was grown from first earth

and water - opened its leaves in unlikely

guise, delivered by unexpected prophets.

This story will bring the world together;

see divisions mend - like wounded skin,

which is explained by cellular activity,

immune system - staggering processes,

magical to see; phenomenal.

Glory and the code are one -

indivisible; needing language

from outside the laboratory -

for illumination, progress

in comprehension, debate;

for who is reading the new library

of mankind - understands, charts -

who knows these mighty works,

so they might monitor, and care.

‘According to Collins, director of the Human Genome Project for the National Institutes of Health, the genome data collected so far haven't  solved a fundamental riddle: How many genes exist, anyway? Estimates have ranged between 35,000 and 140,000 human genes. The figure is so imprecise because recent mapping of chromosome 21 found far fewer genes than expected, only 225 instead of about 500. In contrast, the sequencers at Celera recently suggested there may be more genes than expected hidden on the chromosomes, as many as 140,000. So in jest, Collins has been presiding over a lottery that will pay off in 2003, when the genome is done. At the annual genome conference at Cold Spring Harbor in May, Collins began asking his colleagues to submit guesses - at $1 each now, and $5 each later - into a pool that will be opened at the annual genome meeting in 2003. The winner will be the scientist(s) who comes closest to guessing  the actual number of human genes.This lack of firm knowledge about how many human genes actually exist "is pretty striking," Waterston said. The puzzle exists because "it's not a simple thing to find genes. Only about 3 percent of the genome is used in genes" that actually specify the construction of proteins.’ Robert Cooke, Newsday

‘This issue of Nature features an article entitled "Finishing the euchromatic sequence of the human genome". It has been authored by members of the International Human Genome Sequencing Consortium (IHGSC)…The article marks the latest, but by no means the last, milestone in this historic project… The authors estimate that the finished sequence covers 99% of the euchromatic portion of the genome and that the overall error rate is less than 1 error per 100,000 base pairs. This substantially exceeds the original goals for the project…What is next for the human genome project? Even with a finished sequence in hand there is much still to do….In sequencing the human genome, researchers have already climbed mountains and travelled a long and winding road. But we are only at the end of the beginning: ahead lies another mountain range that we will need to map out and explore as we seek to understand how all the parts revealed by the genome sequence work together to make life.’ Nature, 2004

Note from the author
exploring the project

    Gene Story
        Mendel’s Peas
        The Human Genome Project
        Some history of the
        Human Genome Project
    Romantic Science
    Some Special Genes
    X & Y

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