Human Genome Project shows the wonder and the mystery of humankind

"It has not escaped our notice that the more we learn about the human genome, the more there is to explore."- Conclusion to the human genome sequencing paper

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The publication today (11 February 2001) of the detailed sequencing and mapping papers of the Human Genome Project shows that the “book of humankind” is even more wonderful, and mysterious, than previously thought.

The papers, published in Nature, reveal that the human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution.

One of the main findings of the project is that the human genome contains some 30,000 to 40,000 genes – far fewer than previously estimated.

It is also revealed that hundreds of human genes appear to have been exchanged with bacteria at some point in evolution.

We also share many genes with more humble organisms – about half with the fruitfly and the nematode worm, and about a fifth with yeast.

The unveiling of the full sequence of the Human Genome Project will ultimately provide a vast array of new targets for diagnosis and drug therapies, but already preliminary new treatments are being envisaged based on newly found genes for asthma and Alzheimer’s disease, as well as depression and other mood disorders.

The main paper points out that at the moment all the medicinal drugs on the market are based on just 483 biological “targets” in the human body.

Apart from new drugs, the research is pointing to a vastly increased knowledge of how the human body works – with better explanations now available for a range of conditions or biological responses.

In separate papers, also published in Nature, other researchers point out that knowledge from the HGP may lead to new treatments for addiction, possibly even for non-substance addictions such as gambling, and new therapies for jet-lag and sleep disorders.

Dr Michael Dexter, Director of the Wellcome Trust, said the HGP sequence would become one of the most valuable maps in the history of humankind.

Like all new maps, it would be improved and refined, but it would become a timeless resource. Dr Dexter pointed out that the full promise of the HGP would not become apparent tomorrow or next year, but in the decades to come.

“Maps are a timeless resource – you don’t have to visit every part of them at once for them to be of value. It’s worth knowing that Oxford is south of Birmingham and west of London, even if you don’t plan to visit any of the places tomorrow. The same is true of the Human Genome Project – it will guide researchers for centuries, even if every inch isn’t explored or used tomorrow.”

Dr Michael Dexter Director of the Wellcome Trust

Dr Dexter said the free publication of the HGP sequence, with data being released each night, proved how important it was that fundamental scientific knowledge was fully available to all, and not locked in private genebanks.

“With the data being freely and immediately accessible the credibility of the information can be checked. We are not hiding anything or avoiding anything. But there is also an important philosophical issue – there are certain forms of information that should be available to everyone, and available free of charge.

“Imagine the problems in chemistry if the Periodic Table was in a private databank and you were charged for access! That would be incredibly stupid.

“There are so many potential uses to the Human Genome Project data that to have the information restricted to one person or to one corporation is something that cannot be good for progress.”

Dr Michael Dexter

Dr Dexter said that looking at the genetic differences between people – one variation every 500 to 1 000 bases (letters) – would usher in a new era of personalised medicine. Currently more than 1.4 million of these variations, known as SNPs (single nucleotide polymorphisms) have been found.

“This information will be used to inform us on why people respond badly to some drugs. It may well be used to inform us why some drugs early in development were withdrawn and are now on the shelves of pharmaceutical companies, gathering dust – drugs that might be very useful to treat patients with disease.

“If you could identify those patients where the drug was toxic versus those patients where the drug would have its desired effect, then there’s a potential treasure chest out there of medicine already discovered and partially developed but which cannot yet be used.

“The information we are now accumulating will provide us with an ability to carry out diagnostic tests; to use existing medicines better; to use medicines not yet in clinical use, and the ability to develop new medicines, because we have new targets.”

Dr Michael Dexter

Sir John Sulston, former director of the Sanger Institute who led the team which sequenced a third of the human genome, said the paper stood as a landmark in biomedical understanding.

Sir John said the findings of our genetic similarity to other organisms provided firm proof for the theories advanced by Charles Darwin on the unity of life.

“We are confirming Darwin – that is the most useful take home message from this. It’s great to be getting the molecular correlates of what Darwin hypothesised 150 years ago.

“It is the unity of life, or Nature being conservative, or the idea of the Blind Watchmaker – the notion of evolution as a constant reworking or random recombining of parts. You convert your Austin 7 into a Mercedes, but basically it’s the same underneath.”

Sir John Sulston Former director of the Sanger Institute who led the team which sequenced a third of the human genome

Sir John suggested that an explanation for how a human being can be made from a gene count only twice as great as that of a fly or worm lay in the different functions of some human genes.

“We know that as we move up the ladder of complexity from the single cell creatures, through small animals like worms and flies, and up to us, what we are adding on is control genes. We are not adding so many new genes performing new functions – what we are doing is to increase the variety and subtlety of genes that control other genes.”

Sir John Sulston

Sir John added that the need to understand so many continuing mysteries about the genome amply justified the policy on free and open data release.

“It requires tens of thousands Hundreds of thousands, of good minds looking at it in an unfettered way, doing experiments, to really make the contribution the HGP information it is capable of. It is a very basic set of instructions and we’ve got to learn how our growing bodies interpret these instructions to make a human being.”

Sir John Sulston

Professor Martin Bobrow, Professor of Medical Genetics at Cambridge University, said knowledge from the Human Genome Project would help not only single gene diseases but eventually a range of infectious diseases.

“Our growing understanding of human biochemistry will undoubtedly lead to better and clearer diagnosis of genetic diseases and, in some cases, it already has. But using this new insight also promises breakthroughs in tackling infectious diseases, such as AIDS and tuberculosis.

“We can now start seriously investigating how it is that humans, who we think of as so complex, can manage with only a relatively modest number more genes than worms and flies.”

Professor Martin Bobrow Professor of Medical Genetics at Cambridge University

The HGP researchers make the point that their information is a launch pad for new discoveries, not an end in itself. They stress that there must be a realistic acceptance of the timescale of likely developments, and an involvement by society as a whole as to how the new knowledge is applied.

“The Human Genome Project is only the latest step in a remarkable scientific programme whose origins stretch back a hundred years to the discovery of Mendel’s laws and whose end is nowhere in sight. In a sense, it provides a capstone for efforts in the past century to discover genetic information and a foundation for efforts in the coming century to understand it.

“The scientific work will have profound long-term consequences for medicine, leading to the elucidation of the underlying molecular mechanisms of diseases and thereby facilitating the design in many cases of rational diagnostics and therapeutics targeted at those mechanisms.

“But the science is only part of the challenge. We must also involve society at large in the work ahead. We must set realistic expectations that the most important benefits will not be reaped overnight. Moreover, understanding and wisdom will be required to ensure that these benefits are implemented broadly and equitably.”

The Human Genome Project researchers writing in the Human Genome Project paper

More information

The sixteen institutions that form the Human Genome Sequencing Consortium include:

  1. Baylor College of Medicine, Houston, Texas, USA
  2. Beijing Human Genome Center, Institute of Genetics, Chinese Academy of Sciences, Beijing, China
  3. Gesellschaft für Biotechnologische Forschung mbH, Braunschweig, Germany
  4. Genoscope, Evry, France
  5. Genome Therapeutics Corporation, Waltham, MA, USA
  6. Institute for Molecular Biotechnology, Jena, Germany
  7. Joint Genome Institute, U.S. Department of Energy, Walnut Creek, CA, USA
  8. Keio University, Tokyo, Japan
  9. Max Planck Institute for Molecular Genetics, Berlin, Germany
  10. RIKEN Genomic Sciences Center, Saitama, Japan
  11. The Sanger Institute, Hinxton, U.K.
  12. Stanford DNA Sequencing and Technology Development Center, Palo Alto, CA, USA
  13. University of Washington Genome Center, Seattle, WA, USA
  14. University of Washington Multimegabase Sequencing Center, Seattle, WA,USA
  15. Whitehead Institute for Biomedical Research, MIT, Cambridge, MA, USA
  16. Washington University Genome Sequencing Center, St. Louis, MO, USA

In addition, two institutions played a key role in providing computational support and analysis for the Human Genome Project. These include:

  • The National Center for Biotechnology Information at NIH
  • The European Bioinformatics Institute in Cambridge, UK

The assembly of the genome sequence across chromosomes was also assisted by scientists at the University of California, Santa Cruz, and Neomorphic, Inc.

The cost of sequencing the human genome is sometimes reported as $3 billion. However, this figure refers to the original estimate of total funding for the Human Genome Project over a 15-year period (1990-2005) for a wide range of scientific activities related to genomics.

These include studies of human diseases, experimental organisms (such as bacteria, yeast, worms, flies and mice), development of new technologies for biological and medical research, computational methods to analyse genomes, and ethical, legal and social issues related to genetics.

The Wellcome Trust has committed £210 million ($336 million) to the project. This covers the total costs of the programme, not just the sequencing.

The Sanger Institute has sequenced eight of the 24 human chromosomes – 1, 6, 9, 10, 13, 20, 22 and X.