Backgrounder

The Wellcome Trust Sanger Institute is one of the world's leading genomics centres and is primarily funded by the Wellcome Trust. Founded in 1992 to play a substantial role in the Human Genome Project, the Sanger Institute is dedicated to determining the function of genes to inform healthcare.

The Sanger Institute has been a leader of some of the most important biological programmes over the past 15 years, as well as being part of some of the major discoveries in biomedicine. These capabilities are founded in a unique standard of high-throughput research, integrated programmes and world-leading researchers driven by a passion for discovery.

[Genome Research Limited]

DNA sequence from craft to cornerstone

Genomes are the genetic instructions to build an organism: a genome is constructed from genetic letters called DNA bases, and it is the order, or sequence, of those bases that is important for the information in the genome.

At the founding of the Sanger Institute, DNA sequencing was still a cottage industry. Today, thanks to the efforts of the Sanger Institute and other similar institutions, DNA sequence information is no more than a tool, a resource, a part of the fabric of biology that each researcher can rightly assume will be available.

From reading to interpreting

The journey, from hard-won, iconic human genome sequence to an assumed part of the biomedical toolkit, marked the first dozen years of the Sanger Institute's work. Along the way, the Sanger Institute was part of collaborations to sequence the first genome of a model organism (yeast), the first of an animal (nematode worm), and the first human. All were made rapidly and freely available as a mechanism to encourage research by others and to act as a disincentive to the patenting of genes.

Collaborations and consortia

International Human Genome Sequencing Consortium (IHGSC)

The Sanger Institute's leading role in the International Human Genome Sequencing Consortium set us on a path of global large scale collaboration in our science. The Consortium included scientists from 20 institutions around the world and formed the public effort to complete a human genome sequence: this aim was fulfilled in 2003 with the completion of the draft human genome sequence.

International Cancer Genome Consortium (ICGC)

The International Cancer Genome Consortium (ICGC) has been organized to launch and coordinate a large number of research projects that have the common aim of elucidating comprehensively the genomic changes present in many forms of cancers that contribute to the burden of disease in people throughout the world.

HapMap

The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals

Wellcome Trust Case Control Consortium (WTCCC)

The Wellcome Trust Case-Control Consortium (WTCCC) is a group of 50 research groups across the UK which was established in 2005. The WTCCC aims were to exploit progress in understanding of patterns of human genome sequence variation along with advances in high-throughput genotyping technologies, and to explore the utility, design and analyses of genome-wide association (GWA) studies.

1000 Genomes Project

The 1000 Genomes Project is an international research consortium formed to create the most detailed and medically useful picture to date of human genetic variation. The project involves sequencing the genomes of approximately 1200 people from around the world.

The Ensembl Genome Browser

The Ensembl project, jointly run by the Sanger Institute and the European Bioinformatics Institute, produces genome databases for vertebrates and other eukaryotic species, and makes this information freely available online.

MalariaGEN

The international MalariaGEN consortium, founded in 2005, is a key part of our effort to combat the effects of the malaria parasite. The consortium is a data-sharing community of researchers across the globe, including countries directly affected by malaria, which seeks to discover mechanisms of protective immunity to malaria.

Facts and figures

Genome sequences

Organism Year completed Sanger Institute contribution
Draft Mouse 2002 25%
Yeast 1997 66%
Caenorhabditis elegans (nematode worm) 1998 50%
Mycobacterium tuberculosis (TB) 1998 100%
Salmonella Typhi (typhoid) 2001 100%
Plasmodium falciperum (malaria parasite) 2002 40%
Human 2003 28%
MRSA 2004 100%
Clostridium difficile 2006 100%
Chlamydia trachomatis 2008 100%

But it is in the understanding of genetic messages that the Sanger Institute seeks to make its greatest contribution. The Sanger Institute has been involved in some of the most exciting discoveries in biomedicine, and its research is among the most highly regarded in the world.

Cited papers

Authors Title Year Journal Citations total Citations p.a.
1 IHGSC Human Genome Draft 2001 Nature 7244 905
2 WTCCC Case Control first results 2007 Nature 859 429
3 HapMap Consortium Human Genome HapMap 2005 Nature 1603 401
4 MGSC Mouse Genome Draft 2002 Nature 2277 325
5 Wooster, R. et al Identification of BRCA2 2004 Nature 1500 300
6 Bateman A. et al The Pfam protein families database 2004 Nucleic Acids Research 1383 277
7 Bateman A. et al The pfam protein families database 2002 Nucleic Acids Research 1357 194
8 Gardner, M.J. et al Genome sequence of the human malaria parasite Plasmodium falciperum 2002 Nature 1236 177
9 Kamath R.S. et al Systematic functional analysis of the Caenorhabditis elegans genome using RNAi 2003 Nature 960 160
10 Goffeau, A. et al Life with 6000 genes 1996 Science 1503 116
11 Wilson, R. et al 2.2 Mb contiguous nucleotide sequence from chromosome III of C. elegans 1994 Nature 1226 82

Discoveries

Discovery Year
A study uncovers six new gene regions associated with increased body mass, five of these are found in the brain. 2008
New research has defined a mutation in the mouse genome that closely mimics progressive hearing loss in humans. 2008
Research reveals and catalogues the genomic imbalances in almost 800 cancer cell lines. 2008
Research suggests that it is not size alone that gives more brain power, but that, during evolution, increasingly sophisticated molecular processing of nerve impulses allowed development of animals with more complex behaviours. 2008
A study implicates 350 gene regions in cancer development in the mouse. 2008
A mutated gene was discovered as the key behind families with epilepsy and mental retardation specific to women. The discovery shows that although men can carry the 'bad' gene, only women who carry it are affected. 2008
Novel method to reveal drug targets: Interactions between proteins studied on a global scale. 2008
Two genes implicated in the disease ankylosing spondylitis, a common disease primarily causing back pain and progressive stiffness. 2007
Research from the Wellcome Trust Case Control Consortium played a major part in identifying the clearest genetic link yet to obesity and three new genes linked to type 2 diabetes. 2007
Mouse microRNA knockout uncovers potential roles in human immune system. 2007
Researchers provide new insights into autism and learning disability. 2007
Largest genome study of cancer types shows that the number of mutated genes that drive development of cancer is greater than previously thought. 2007
For the first time, researchers systematically mapped gene interactions in an animal and identify global properties of genetic interactions to identify common modifiers of human disease genes. 2006
A genetically modified worm to help screen for drugs. 2006
Research suggests that losing gene activity can be good for your health: the caspase-12 gene appears to be detrimental to human response to bacterial infection. 2006
We uncover proteins in synapses that are important in schizophrenia, bipolar disease, mental retardation. 2006
As part of the HapMap Project, we begin to identify methods to detect regulatory regions of DNA. 2005
ERBB2 mutation, which controls cell proliferation, is identified as playing a role in 4% of lung cancers. 2004
BRAF gene is discovered to be implicated in 70% of melanomas. 2002
BRCA2 breast cancer gene is identified. 1995

DNA in context, in health

Today, the Sanger Institute uses genomic information to understand the role of genes in health and disease: it aims to understand the medical implication of genomics on a scale and with an impact similar to that made by genome sequencing. To understand the biological consequences of genetic variation requires a holistic examination of many biological processes across different systems. Human disease, including heart disease, cancer and diabetes, can result from a complex of interactions of mutations encoded in many genes. At the Sanger Institute, we work on many levels, from looking at genetic patterns in tens of thousands of people, to using mouse models to investigate the effects of individual mutations in individual genes on the organism. Research at these different resolutions will help to develop a more comprehensive understanding of gene function in health and disease and should prove to be the foundation for improvements in patient care.

As part of the Sanger Institute's drive to make real and lasting benefits to global health burdens, we have several teams of researchers dedicated to tackling diseases affecting primarily the developing world. We will complete 10,000 pathogen genomes by the year 2011. In the past, we have been involved in projects to sequence malaria, leishmaniasis, schistosomiasis, sleeping sickness and tuberculosis, all diseases that are massive burden on the developing world. As part of global networks, researchers at the Sanger Institute as well as in the front-line in countries affected, have the opportunity to make steps toward the global eradication of malaria and typhoid.

The postgenomic era opens the door for looking at the impact of genetics of human health. The Sanger Institute will make a contribution in biomedicine and understanding gene function to equal and perhaps eclipse its work in decoding the human and other genomes. Clinical benefits will be a direct result of the kind of research strategy we choose to adopt now.

Contact the Press Office

Don Powell Media and Public Relations Manager
Wellcome Trust Sanger Institute, Hinxton, Cambs, CB10 1SA, UK

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