Metabolon, Inc., the global leader in providing metabolomics solutions advancing a wide variety of life science research, diagnostic, therapeutic development, and precision medicine applications, and Genomics England, a UK government-funded organization holding one of the world's largest rare disease datasets, today announce 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% of rare diseases 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. 

The collaboration will generate metabolomic data for over 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.

"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 Dr. Karl Bradshaw, Chief Business Officer at Metabolon. "We are thrilled to partner with Genomics England to improve the diagnosis of patients with rare disease."    

"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 Professor 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. We're excited to work with Metabolon to bring this vision to life and explore the potential for metabolomic profiling to improve our understanding of the causes of rare conditions to support diagnosis for patients and families affected by rare genetic conditions."