NIST grant enables Peoples Genetics to conduct large-population analysis of entire human genome

Woburn 09 October 2002The National Institute of Standards and Technology's Advanced Technology Programme (ATP) has awarded Peoples Genetics Inc., a $2 million grant to create an instrument that will make it possible to discover all of the disease-causing mutations among the human genome's 40.000 genes. Drawing on the company's genetic analysis of vast populations, this knowledge may lead to a new form of medical test, which would detect every genetic risk factor an individual may carry for diseases such as early-onset breast cancer.

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The ATP is a federal programme that funds early-stage, high-risk research with important potential benefits to the United States. This prestigious award will allow Peoples Genetics to build an ultra-high throughput mutational spectrometer (UTMS), which simultaneously will identify mutations within 10.000 sequences of the human genome, using 10.000 individual, micrometer-scale capillaries.

The UTMS will employ micro-fabrication technology, robotics, and Peoples Genetics' patented analytical technique, constant denaturant capillary electro-phoresis, in order to provide the throughput necessary to discover and quantify mutations throughout the entire length of genome. Combined with Peoples Genetics' high-fidelity sample preparation processes, the UTMS also will accommodate DNA samples pooled from up to 100.000 individuals, detecting even the rarest of mutations.

To give one measure of the instrument's enormous capacity: examining so many DNA sequences in such vast numbers of samples, the UTMS will be able to analyse the equivalent of 730.000 human genomes per year. "With the generous support of the Advanced Technology Programme, Peoples Genetics is about to cross a new scientific threshold", stated Kevin Molloy, Peoples Genetics chief operating officer. "For the first time, researchers will be able to search for the clues to disease throughout the entire genome, and compare each sequence among many thousands of individuals."

Increasingly, science recognises the need to examine genetic mutations among large populations. Only large studies provide the statistical power to identify the many genes and mutations that create risk for complex diseases, such as diabetes and cancer. But because of economic and practical limitations, traditional genetic analysis techniques cannot be used to study populations of more than a few hundred persons.

In addition to the support of the ATP, a host of scientific collaborators will enable the development of the UTMS. "This groundbreaking project represents true teamwork", stated Chira Deka, Peoples Genetics principal investigator. "We have organised a strong group of scientists and engineers, and will be working closely with scientists from the Bioengineering Department of the Massachusetts Institute of Technology, as well as the Barnett Institute of Chemical and Biological Analysis at Northeastern University."

Genome-wide knowledge gained from the UTMS could lead to a diagnostic test that detects all of the multiple genetic mutations associated with a complex disease, according to Peoples Genetics. This test could be especially important, for example, in predicting an individual's likelihood of developing breast cancer at an early age. Current tests for this disease examine two genes, BRCA1 and BRCA2, which account for only five percent of the inherited risk for early-onset breast cancer.

Ultimately, a test could be created that would provide an individual with a profile of his or her genetic risk for developing dozens of complex diseases, and predict which medications will be most effective against them. Such a test could transform the practice of medicine, allowing clinicians to prevent disease in at-risk patients, and tailor treatment around their unique genetic make-up, as stated by Mr. Molloy.

"Peoples Genetics plans to make genetic discoveries that open up entirely new ways of detecting and combating some of the world's most serious threats to human health", he stated. "Enabled by the Advanced Technology Programme, we will help deliver on the long-standing promise of genomics. We are honoured by the programme's recognition of this potential."

The Advanced Technology Programme provides cost-shared funding to industry-led teams, which can include non-profits and universities, to help advance particularly challenging, high-risk research and development projects that have the potential to spark important, broad-based economic or social benefits for the United States. The programme supports projects that industry cannot fully fund on its own because of significant technical risks.

The programme's awards are made on the basis of rigorous competitive peer review, considering scientific and technical merit of each proposal and its potential benefits to the United States' economy. Applicants must include a detailed business plan for bringing the new technology to market once technical milestones have been achieved under ATP support. The programme is managed by the National Institute of Standards and Technology, which is an agency of the United States Department of Commerce.

Peoples Genetics Inc. is a privately held genomics company that is discovering the genetic causes of common diseases through experiments of unprecedented scale. The company provides services for biopharmaceutical companies and research institutions, while also pursuing its own genetic discoveries for future development of molecular diagnostics. Peoples Genetics holds exclusive licenses from the Massachusetts Institute of Technology and Northeastern University. The company was founded in November 2000 by Joseph P. Kennedy II; William Thilly, Sc.D.; and Barry Karger, Ph.D.


Leslie Versweyveld

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