British science targets nearly half of world's genetic diseases

British scientists are helping the world to understand four out of 10 of known genetic diseases, such as cancer, Alzheimer's and heart disease.

Currently 39% of all the disease genes found have been discovered on “British” chromosomes. There are 24 chromosomes in the human body, and eight of these are being sequenced (that is, genetically read) by researchers at the Sanger Institute, at the Wellcome Trust Genome Campus near Cambridge.

At least three of the “British” chromosomes (chromosomes 1, 6 and X) appear to be “disease rich” in the sense they carry mutations that can cause ill health. The knowledge provided from the UK could therefore be of greater than expected benefit in helping to understand the causes of disease and ill health around the world.

Scientists working at the Sanger Institute make this information publicly available, to be used by academics, industry and others free of charge. They will publish further findings from the Human Genome Project in the scientific journal Nature next week.

“It makes me proud to know that, by making this information available for all to use, the Sanger Institute is contributing enormously to international science and global heath. British science has taken a few knocks in the last decade, but it is clearly now regaining its rightful place at the leading edge of biomedical research that promises health benefits for all humanity.”

Dr Mike Dexter Director of the Wellcome Trust

The Wellcome Trust funded one third of the international Human Genome Project at the Sanger Institute.

It is not known how many genes are carried in the human body, but of the 1,778 disease genes so far found, the Sanger chromosomes have contributed 695, or 39%.

“Britain can be proud of the scientists at the Sanger Institute that have worked on, and will continue to work on, the Human Genome Project.

“This is not to be nationalistic or ignore our partners in Europe America or the rest of the world. It has been a truly international collaboration and would not have been possible without such a partnership. But the fact remains that Britain has looked after a third of the effort to read the human genome.

“We believe our efforts, our intellectual gift to the world, are valuable because we are providing a vast array of clues to other researchers as to why these diseases arise, and therefore opening up new ways of diagnosing and treating them. We are all proud to have been involved in this work.”

Sir John Sulston former Director of the Sanger Institute

The British achievement was praised by Lord Sainsbury of Turville, Minster for Science.

“The Human Genome Project is one of the great all-time achievements of UK science. It builds on the Government’s commitment to a strong science base in the UK and we are delighted with the further demonstration of its excellence.”

Lord Sainsbury of Turville, Minster for Science

The British scientists hope that others around the world will use their results to develop tailor-made therapies that get to the root of disease, rather than treating the symptoms.

Already, the Sanger Institute team is collaborating with scientists all over the world to identify other disease genes, including those involved in Alzheimer’s disease, cancers (including leukemia’s, prostate, testicular and bone cancers), diabetes, heart disease, mental retardation, as well as asthma and other allergies:

Of the 24 human chromosomes (1-22, X and Y), scientists at the Sanger Institute are helping to sequence chromosomes 1, 6, 9, 10, 13, 20, 22 and X. Sanger Institute scientists were the first to decode an entire human chromosome (chromosome 22), in December 1999.

More information

1. Details of the individual disease genes on the Sanger chromosomes are available by e-mail only (mediaoffice@wellcome.org)
2. The total number of genes (disease and non-disease-associated) in the US National Centre for Biotechnology Information database stands at 6786 (on Friday 2nd February 2001). Sanger chromosomes have contributed 2,401 – 35% to this total. Web address: http://www.ncbi.nlm.nih.gov/
3. The Wellcome Trust is an independent, research-funding charity, established under the will of Sir Henry Wellcome in 1936. It is funded from a private endowment, which is managed with long-term stability and growth in mind. The Trust’s mission is to foster and promote research with the aim of improving human and animal health. For more information, visit our website at wellcome.org/
4. The sixteen institutions that form the Human Genome Sequencing Consortium include:
5. Baylor College of Medicine, Houston, Texas, USA
6. Beijing Human Genome Center, Institute of Genetics, Chinese Academy of Sciences, Beijing, China
7. Gesellschaft für Biotechnologische Forschung mbH, Braunschweig, Germany
8. Genoscope, Evry, France
9. Genome Therapeutics Corporation, Waltham, MA, USA WA, USA
10. University of Washington Multimegabase Sequencing Center, Seattle, WA,USA
11. Whitehead Institute for Biomedical Research, MIT, Cambridge, MA, USA
12. 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.