Lipidomics and metabolomics for rare disease diagnosis

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One of the top priorities set out by the UK Rare Diseases Framework is to help patients get a final diagnosis faster. There are an estimated 6,000-8,000 rare diseases, including over 1,000 inborn metabolic disorders. The majority of rare disease patients experience the diagnostic odyssey, including diagnosis delay, misdiagnosis, or no correct diagnosis. Harnessing the power of gene technology for patient care has made a significant advance, but gene sequencing is mostly limited to diagnosing patients with known mutations. To further transform rare disease diagnosis, biochemical methods including metabolomics, and gene sequencing technology need to be developed together and integrated. Clinicians want more global and efficient assays which can identify what is the cause of the medical problem and can rule out other conditions in an initial assessment with a fast turnaround time.UK academic laboratories specialising in mass spectrometry have world-leading expertise in global metabolite analysis, known as metabolomics. Currently this technology is only used in ad hoc research collaborations, and the majority of patients do not directly benefit from such recent technology developments.To address the challenges in rare disease diagnosis, by bringing together, bioanalysts including experts in metabolomics, clinical scientists, clinicians, geneticists, biostatisticians and patient groups, from across the four nations of the UK, our node aims to establish new routes for clinical access to multiplexed lipidomic/metabolomic assays targeted at rare diseases, enabling earlier diagnosis, intervention and improved clinical outcomes.