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Key projects and discoveries

Highlights of the Sanger’s many discoveries and achievements over the last 15 years.

Below are highlights of the key projects and discoveries in which the Sanger Institute has been involved. For more details on each, visit the Sanger Institute's website.

The Human Genome Project

In 2003, the International Human Genome Sequencing Consortium announced the completion of the Human Genome Project. The Sanger Institute drove the UK's contribution to the Project, sequencing one-third of the human genome, the largest single contribution from any centre.

Pathogen genomes

Since 1995, the Sanger Institute has generated the genome sequences of a range of significant human pathogens, including Mycobacterium tuberculosis (1998), Plasmodium falciparum (2002), the 'superbug' MRSA (methicillin- resistant Staphylococcus aureus) (2004), Entamoeba histolytica (2005), Clostridium difficile (2006), Schistosomiasis mansoni (2009) and three Leishmania species: L. major (2005), L. braziliensis (2007) and L. infantum (2007).

The Cancer Genome Project

The Cancer Genome Project, developed in 1999 and seen as a paradigm for the use of sequence information, is using the human genome as a reference to systematically search for the genes implicated in human cancer. The Project achieved its first success in 2002 with the discovery of mutations in the BRAF gene that lead to malignant melanoma; in 2009, it published the first complete genome sequence of two cancers: malignant melanoma and small-cell carcinoma of the lung.

The ENCODE initiative

The ENCODE initiative, a research consortium launched in 2003, aims to identify and catalogue all functional elements in our DNA sequence by analysing in detail 1 per cent of the human genome. Results of the pilot programme in 2007 revealed that almost every base in the test section of the genome is transcribed into RNA.

The Wellcome Trust Case Control Consortium

The Wellcome Trust Sanger Institute was a major lead in the inception and development of the Wellcome Trust Case Control Consortium (WTCCC). Between 2005 and 2007, the WTCCC pioneered the use of genome-wide association studies to examine genetic variation in seven common, complex diseases including bipolar disorder, coronary artery disease, Crohn's disease, hypertension, rheumatoid arthritis, type 1 diabetes and type 2 diabetes. This study has identified more than 90 disease-causing variants.

Copy Number Variation Project

In 2006, scientists from the Sanger Institute were part of a multinational team who discovered that copy number variation (CNV) - the loss or duplication of chunks of DNA from the genome - was much more common than previously thought, affecting 12 per cent of the genome. CNV has been implicated in several human genetic diseases, and affects susceptibility to HIV and malaria infection.

The 1000 Genomes Project

Initiated in 2008, the 1000 Genomes Project aims to analyse 1000 genomes from different global populations. It will generate a highly detailed map of human genetic variation, from single-letter changes in the DNA to larger areas that have been duplicated or deleted.

View a timeline of events and discoveries

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