Metabolon Partners With Genomics England to Provide Metabolomic Data on 7,000 Patients From 100,000 Genomes Project to Find Rare Disease Biomarkers
Metabolon and Genomics England, a UK government-funded organization, have joined forces to tackle the challenges of rare disease diagnosis. Rare diseases, characterized by their complexity and the limited understanding of their underlying mechanisms, often elude quick and accurate diagnosis, leading to years of uncertainty for affected individuals. This partnership aims to harness the power of metabolomics and genomics to advance the diagnosis, treatment, and understanding of rare diseases.
Rare diseases, although individually uncommon, collectively impact a substantial portion of the global population, with approximately 350 million people worldwide suffering from these conditions. Furthermore, a significant portion of rare disease cases occur in children, significantly impacting their quality of life and longevity. The lengthy diagnostic process for rare diseases takes a significant toll on patients and their families, emphasizing the urgency for innovative solutions.
Metabolon’s precision medicine platform and tools have shown promise in facilitating the diagnosis, treatment guidance, and monitoring of individuals afflicted by rare diseases. Through this collaboration, Metabolon and Genomics England aim to identify new biomarkers for known rare diseases and uncover the disease-causing pathways for previously unidentified conditions. The resulting insights are expected to enable healthcare providers to offer quicker and more effective diagnoses and treatments for individuals grappling with rare diseases.
The collaboration’s scope encompasses the generation of metabolomic data from over 7,000 participants who were part of the 100,000 Genomes Project. The 100,000 Genomes Project, led by Genomics England and NHS England, is a initiative that has sequenced the whole genomes of 100,000 NHS patients affected by rare conditions and cancer.
Dr. Karl Bradshaw, Chief Business Officer at Metabolon, expressed enthusiasm about the partnership and its potential to transform rare disease diagnosis, saying, “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. We are thrilled to partner with Genomics England to improve the diagnosis of patients with rare disease.”