Open Innovation: Diabetes Genetics Initiative

Published Oct-30-09

A successful open collaboration to crack the genetic basis of type 2 diabetes - one of the world’s fastest growing public health threats.

Broad Institute of MIT and Harvard University - USA, Lund University from Sweden, and Novartis from Switzerland, United States

The Story:

Open Innovation: Diabetes Genetics Initiative Type 2 diabetes is the most common form of diabetes, where the body does not produce enough insulin, or the insulin that is produced is abnormal. The condition affects more than 170 million people across the planet, a number that is predicted to increase to 300 million by the year 2025. Therefore, there is some urgency in developing more effective treatments as well as improving the ability of physicians to identify at risk individuals.

Unraveling the disease’s genetic code will help scientists to understand how genes contribute to it as well as presenting researchers with new targets for the development of therapeutics.


The Diabetes Genetics Initiative (DGI) is a joint project between the Broad Institute of MIT and Harvard, Swiss drug maker Novartis and Lund University. The aim is to determine the molecular basis of type 2 diabetes and to make the research freely available to scientists worldwide. The three groups believe that the benefits of such openness far outweigh those of secrecy and speed up research efforts by allowing others to patent new therapies or diagnostic tests. In fact according to Thomas Hughes, Head of Diabetes and Metabolism Research at the Novartis Institutes for BioMedical Research the interdisciplinary team approach may well be the best way to understand complex disorders and quickly turn this knowledge to therapeutic advantage.

The initiative was launched in 2004 and pulled together a community of researchers, geneticists, physicians and others. “The collaboration reflects the mission of the Broad Institute to pull together a community of researchers to tackle complex problems that require multi-disciplinary teams and that are difficult to solve in the traditional laboratory setting,” said Broad founding director Professor Eric Lander.

Complex Disease

Type 2 diabetes is known as a complex common disease and finding genes for such disorders is tricky for two main reasons. The first is that there are many genes involved in the disease, any one of which only contributes in a minor way. The second reason is that there are interactions between these genes and environmental factors such as diet and stress.

To decipher the genetic basis of Type 2 diabetes scientists scoured the human genome looking for single nucleotide polymorphisms. These are subtle changes in the body’s genetic building blocks that can act as signposts, highlighting the presence of nearby genes that may cause the disease. To find these signposts the scientists compare the DNA from thousands of affected individuals with the DNA of unaffected people. The team was amongst the first to apply a suite of genomic resources, such as the Human Genome Project to clinical research.

Research Findings

The first fruits of this public-private open collaboration model came in 2007 when the DGI announced that they had found three unsuspected regions of DNA that contain eight clear genetic risk factors for type 2 diabetes. The research also identified a region of DNA lying far away from any genes with known functions. These genomic “outsiders” are usually hard to find by traditional hypothesis-driven approaches.

The results of the analysis are accessible to anyone free of charge on the Internet. They provide the most extensive view yet of the root genetic causes of type 2 diabetes which is a massive boost to research in this field.

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