Metabolon and Genomics England Announce Partnership to Characterize Hundreds of Rare Diseases and Advance Rare Disease Diagnosis

Alliance aims to enable the discovery of novel rare disease biomarkers to support faster diagnosis and more effective treatments

MORRISVILLE, N.C., and LONDON, Oct. 25, 2023 /PRNewswire/ -- 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."

About Metabolon 
Metabolon, Inc. is the global leader in metabolomics, with a mission to deliver biochemical data and insights that expand and accelerate the impact of life sciences research. Over 20 years, 10,000+ projects, 3,000+ publications, and ISO 9001:2015, CAP, and CLIA certifications, Metabolon has developed industry-leading scientific, technology, and bioinformatics techniques.  Metabolon's Global Discovery Panel is enabled by the world's largest proprietary metabolomics reference library.  Metabolon's industry-leading data and translational science expertise help customers and partners address some of the most challenging and pressing questions in the life sciences, accelerating research and enhancing development success. The company offers scalable, customizable metabolomics and lipidomics solutions supporting customer needs from discovery through clinical trials and product life-cycle management.  For more information, please visit www.metabolon.com and follow us on LinkedIn and Twitter.

About Genomics England

Genomics England is a global leader in advancing and delivering genomic medicine at scale, for all.  Building on our delivery of the 100,000 Genomes Project, we are enabling the world's first national whole genome sequencing service in the NHS Genomic Medicine Service, delivering the most advanced genomic healthcare today.  We maximize the patient and participant benefit of this service by using the same trusted and proven infrastructure and expertise, and consent and governance framework, to support the development of the genomic medicine of tomorrow, together with the NHS, industry, and academia.  All this focused on delivering our vision of a world in which everyone benefits from genomics. 

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