Metabolon and Genomics England Partner to Characterize Rare Diseases and Advance Rare Disease Diagnosis

Rare Daily Staff

Metabolon, a provider of metabolomics solutions for life science applications, and Genomics England, a UK government-funded organization holding one of the world’s largest, rare disease datasets, entered into a collaboration to further characterize hundreds of rare diseases to advance the field of rare disease diagnosis.

Rare diseases are incredibly difficult to analyze and can often take years to obtain a definitive diagnosis, if at all.  There are three hundred and fifty million people worldwide suffering from rare diseases, 75 percent of which of affect children, often leading to poor quality of life and early mortality.

Metabolon’s proprietary precision medicine platform and tools have demonstrated clinical utility for diagnosis, treatment guidance, and monitoring of individuals suffering from rare diseases.  It is hoped this research collaboration between Metabolon and Genomics England will enable the rapid discovery of novel biomarkers for known rare diseases and uncover disease-causing pathways for many unknown rare diseases.  This information could ultimately enable clinicians to provide faster diagnoses and more effective treatments for those in greatest need.

“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, chief business officer at Metabolon.

The collaboration will generate metabolomic data for more than 7,000 participants from the 100,000 Genomes Project, a landmark project led by Genomics England and NHS England, which sequenced 100,000 whole genomes from NHS patients affected by rare conditions and cancer.

“When Genomics England was established over ten years ago, our horizons and goals were shaped by the technology available at the time. Since then, there have been major advances in science, technology, and analytics, including the emergence of metabolomics,” said Matt Brown, chief scientific officer at Genomics England. “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.”

Photo: Karl Bradshaw, chief business officer at Metabolon