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Novartis, The Broad Institute, and Lund University announce release of genome-wide analysis of genes associated with type 2 diabetes and related metabolic disorders


International public-private collaboration creates comprehensive database to unlock the genetic basis of type 2 diabetes, which affects more than 170 million people world-wide.
Data are publicly available on the web at

Cambridge MA, February 12, 2007 - Novartis, The Broad Institute, and Lund University today announced the completion of a genome-wide map of genetic differences in humans and their relationship to type 2 diabetes and other metabolic disorders. All results of the analysis are being made accessible, free of charge on the internet to scientists around the world.

The work is the result of a pioneering public-private collaboration known as the Diabetes Genetics Initiative (DGI), which was formed in 2004 and is aimed at deciphering the genetic causes of type 2 diabetes. The collaboration brings together diverse expertise in diabetes and metabolic disease, human genetics, genomics, statistical analysis, and drug development.

“These discoveries are but a first step. To translate this study’s provocative identification of diabetes-related genes into the invention of new medicines will require a global effort. We hope many will race to do so,” said Mark Fishman, President of the Novartis Institutes for BioMedical Research. “We hope as well that others adopt this novel and effective mode of open collaboration between scientists and physicians, in business and academia, and dedicate work to our patients by making the data quickly and freely available to all.”

Type 2 diabetes and related cardiovascular risk factors, including obesity, high blood pressure, and high cholesterol, are among the most common and significant public health challenges in the industrialized world. Their incidence continues to climb despite advances in biomedicine, highlighting the need for new insights into the disorders’ root causes and novel strategies for prevention and treatment. Although type 2 diabetes clearly runs in families, suggesting the importance of inherited factors, its genetic origins remain largely unclear.

A powerful new research tool
In October 2004, the DGI announced a three-year plan to test a small fraction of all human genes for their possible roles in type 2 diabetes. Driven by recent advances in the knowledge of human genetic variation, high-throughput genomic technologies, and computational methods for data analysis, the partnership is now releasing the results of a systematic survey of every gene in the genome - roughly 20,000 genes in total. The data include detailed clinical information from more than 3,000 type 2 diabetes patients in Sweden and Finland, and analyses of 500,000 genetic differences encoded in each patient’s DNA.

“The Human Genome Project, HapMap database, and new genomic tools have made it possible for the first time to screen the genome for DNA variations that contribute to common diseases,” said principal investigator David Altshuler, Director of the Program in Medical and Population Genetics at The Broad Institute and an associate professor at Massachusetts General Hospital and Harvard Medical School. “Since diabetes and cardiovascular risk factors are influenced by many genes, environment, and behavior, these powerful new tools are required to pick up the effect of any one genetic risk factor.”

Data underscore complexity of disease
Canvassing the entire genome, not just the genes already thought to influence type 2 diabetes, will allow scientists to gain novel insights into the disease’s genetic underpinnings - information that could potentially lead to the development of new, more effective therapies.

As a so-called “complex” disease, type 2 diabetes is influenced by several genetic factors that when combined, can significantly increase a person’s risk of disease, but alone exert only small effects. Initial analyses of the data generated by the DGI reflect this complexity. Given the subtle nature of each genetic variation and the importance of subsequent scientific validation and replication, the partnership’s conclusions have yet to be released pending peer-review and publication. However, the public availability of the results enables scientists in academic and industry laboratories worldwide to access the data without delay, and to develop and test their own hypotheses about the genes that contribute to type 2 diabetes.

“We have seen a dramatic rise in the number of people who suffer from type 2 diabetes over the past decade, and new treatments are needed,” said Principal Investigator Leif Groop, a professor in the Department of Endocrinology at Lund University. “Genetic contributors to disease can provide new clues that might, in the long run, point to new approaches to diagnosis, prevention, and therapy.”

About the Diabetes Genetics Initiative
Formed in 2004, the Diabetes Genetics Initiative is an international collaboration of The Broad Institute of MIT and Harvard, Lund University, and Novartis. Collaborators included scientists from the Jackson Heart Study and the University of Southern California. The Broad Institute team includes scientists from its partner institutions, which include Harvard Medical School, Massachusetts General Hospital, and Children’s Hospital, Boston.

Data from the Diabetes Genetics Initiative are made publicly available at

This release contains certain forward-looking statements relating to the Novartis Group’s business, which can be identified by the use of forward-looking terminology such as “is expected to,” “has the potential to,” or similar expressions, or by express or implied discussions regarding the potential development and commercialization of new products or regarding potential future sales from any such products. Such statements reflect the current views of Novartis with respect to future events and are subject to certain risks, uncertainties, and assumptions. Many factors could cause the actual results to be materially different from any future results, performances or achievements that may be expressed or implied by such forward-looking statements. There can be no guarantee that the aforementioned collaboration and research will lead to the development or commercialization of any new products in any market, or that any such products will reach any particular sales levels. Any such commercialization or sales can be affected by, among other things, uncertainties relating to product development and clinical trials, regulatory actions or delays or government regulation generally, the ability to obtain or maintain patent or other proprietary intellectual property protection and competition in general, as well as factors discussed in Novartis AG’s Form 20-F filed with the Securities and Exchange Commission. Should one or more of these risks or uncertainties materialize, or should underlying assumptions prove incorrect, actual results may vary materially from those described herein as anticipated, believed, estimated or expected. Novartis is providing this information as of this date and does not undertake any obligation to update any forward-looking statements contained in this document as a result of new information, future events or otherwise.

About Novartis
Novartis AG (NYSE: NVS) is a world leader in offering medicines to protect health, cure disease and improve well-being. Our goal is to discover, develop and successfully market innovative products to treat patients, ease suffering and enhance the quality of life. We are strengthening our medicine-based portfolio, which is focused on strategic growth platforms in innovation-driven pharmaceuticals, high-quality and low-cost generics, human vaccines and leading self-medication OTC brands. Novartis is the only company with leadership positions in these areas. In 2006, the Group’s businesses achieved net sales of USD 37.0 billion and net income of USD 7.2 billion. Approximately USD 5.4 billion was invested in R&D. Headquartered in Basel, Switzerland, Novartis Group companies employ approximately 101,000 associates and operate in over 140 countries around the world. For more information, please visit

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