The node has been working with instrument manufacturers to translate diagnostic methods developed on high-end research-lab instruments into a format suitable for instruments currently used in the metabolic laboratories of the NHS. This will ultimately allow new diagnostic methods for rare diseases to be incorporated into the NHS.
Examples of this translation are seen for the rare diseases, cerebrotendinous xanthomatosis, Niemann-Pick type C disease and Spastic Paraplegia type 5A. Although these disorders can be diagnosed by gene sequencing, the conundrum of variants of uncertain significance can be resolved by lipidomics technology.
For several rare diseases there is no approved treatment. We are using lipidomic/metabolomic methods to investigate the biochemistry of a number of such diseases. Our results have been used to support, or rule out, potential treatments. We are working with clinicians who are trialling prescription medications (e.g. statins) as treatments for specific rare diseases. Using lipidomic methods we are monitoring the biochemical response to medication. In a similar vein we are using lipidomic methods to monitor the response to gene therapy for e.g. Gaucher disease and Wolman disease. We are working with the Syndrome Without A Name (SWAN) clinic in Cardiff, in an attempt, using metabolomic and lipidomic methods, to reveal a diagnosis for SWAN patients, while in London a research nurse is in place collecting blood samples from rare disease patients for lipidomic analysis.
Regarding the more common rare diseases, like motor neuron disease and Huntington’s disease, we are involved in projects designed to uncover biomarkers of disease onset and of progression.
We have been actively involved in PPIE presenting at patient engagement events e.g. HD Public/Patient Engagement Event, RAREsummit23, Public Virtual Genetics Café.
Our next goals are to support more clinical centres throughout the UK and increase the number of collaborating academic centres working with the node in this endeavour.
