Man and DNA
Credit: jro-grafik/Fotolia

Metabolomics-focused life sciences company Metabolon and genomic medicine organization Genomics England announced they will partner to advance the characterization of hundreds of rare diseases with the goal of advancing rare disease diagnosis. Metabolon will generate metabolomic data for more than 7,000 participants of the 100,000 Genome Project, one of the first government-funded population-based genomics projects that sequenced 100,000 whole genomes from National Health Service (NHS) patients affected by rare diseases and cancer.

“This partnership seeks to establish the clinical utility of metabolomics in precision medicine and demonstrate the value of metabolomics alongside genomics for profiling patients with complex rare phenotypes,” said Karl Bradshaw, PhD, chief business officer at Metabolon. “We are thrilled to partner with Genomics England to improve the diagnosis of patients with rare disease.”

Identification of rare disease is often a long, drawn out process that can take years, limiting the treatment options available to patients. It is estimated that in total, rare diseases affect as many as 350 million people worldwide, with 75% of rare diseases affecting children. The often long diagnostic journey results in poor quality of life and mortality.

Metabolon has been a leading provider of research solutions in the field of metabolomics for more than 20 years. Its service combine what the company deems the world’s largest metabolomics reference library, comprising more than of 5,400+ known metabolites, 2,000 in human plasma, all referenced in the context of biochemical pathways.

“Executed comprehensively, metabolomics provides life sciences researchers and drug developers with an integrated look at the functional state of a biological system, allowing you to quickly zero in on the biological insights and biomarkers that define health, disease, and treatment response,” the company states on its website.

The roadblock in many metabolomic studies, however, is limited coverage of the metabolome using smaller, publicly available data sets. This limited view can hamper researchers by not delivering information on the breadth of metabolites that may be present in a sample and potentially miss out on making new discoveries.

Genomics England, which has invested heavily in deciphering the human genome to help guide diagnosis and treatment for rare diseases and cancer, now hopes to leverage the increasing knowledge base on the role played by the human metabolome in the development of disease.

“When Genomics England was established over ten years ago, our horizons and goals were shaped by the technology available at the time,” said Matt Brown, chief scientific officer at Genomics England.  “Since then, there have been major advances in science, technology, and analytics, including the emergence of metabolomics. We’re now looking to expand our focus to bring together these different ‘omics approaches to build the world’s largest dataset with comprehensive multi-omic profiling for rare disease.”

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