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New Study Reveals Interplay between Genetics and Metabolism in Complex Disease

Published: Saturday, May 17, 2014
Last Updated: Saturday, May 17, 2014
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Metabolomic profiling coupled with genomics data yields new insight into diseases, potential biomarkers and drug treatments.

Metabolon, Inc. has announced the publication of a paper entitled “An Atlas of Genetic Influences on Human Blood Metabolites” in Nature Genetics. Co-authored by Metabolon scientists, this paper is the result of a third genome-wide association study (GWAS) that combines genomic data and metabolic profiling to gain comprehensive understanding of the human biological system and presents the most comprehensive metabolomics survey of human metabolism conducted to date.

Building on earlier work published in Nature in 2011, Metabolon, in collaboration with a team of researchers led by Pfizer, King’s College London, Helmholtz Zentrum München, Weill Cornell Medical College in Qatar and Wellcome Trust Sanger Institute, among others, measured over 500 blood metabolites of nearly 8,000 study participants.

This effort revealed hundreds of exceptionally strong associations between metabolites and genetic variants. These associations provide a system-wide atlas of the effective activity of human genes and allelic differences, potentially improving disease understanding and providing new opportunities for drug development.

“One of the great conundrums in genomic research, aside from determining gene function, is to determine the biological meaning, if any, of allelic differences,” commented Michael Milburn, Ph.D., Chief Scientific Officer at Metabolon and one of two Metabolon authors to the publication. “Metabolic-allelic associations have the potential to provide a better understanding of gene function and can be enormously helpful in teasing apart genetic differences to improve biological understanding.”

“This study illustrates the power of discovery metabolomics to ‘complete the picture’ in human genomic studies aimed at understanding the complexity of human health,” said John Ryals, Ph.D, President and CEO of Metabolon. “The last decade of genomics research has revealed an even deeper level of complexity than once thought. Advanced metabolomics technology has the potential to bridge complex genetic and proteomic data to provide enhanced insight into the individual phenotype. We are grateful for the efforts of our long-term collaborators, Prof. Tim Spector, Prof. Karsten Suhre and Prof. Gabi Kastenmueller, for their leadership and dedication to this project. It is a tour de force of modern genomic and metabolomic research.”

Metabolon has several ongoing initiatives that utilize its proprietary metabolomics technology to advance genomics-based health research. These include strategic partnerships with Craig Venter’s new genomics initiative, Human Longevity, Inc., and the Global Genomics Group (G3).

These collaborations demonstrate increasing awareness among scientific experts about the important role metabolomics can play in other forms of ‘omic’ research.


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