My three wishes for the future of rare disease are: leveraging information on modalities other than genetics to improve 1) diagnostic rates 2) treatment options and 3) surveillance and care for people with rare diseases.
Julia Carrasco Zanini Sanchez is a postdoctoral researcher at Queen Mary’s new Precision Health University Research Institute (PHURI). Her research focusses on how multi-omics and electronic health records can be leveraged to improve prediction, early detection, and prognostic assessment of diverse diseases. Julia got her PhD in Medical Science (Metabolic and Cardiovascular diseases) from the University of Cambridge, where she worked on the application of broad-capture proteomic technologies for 1) identification of causal disease targets and 2) development of prediction models.
Diagnostic Advances: Beyond the Genome
Get to know your omics: Metabolomics, transcriptomics, proteomics and AI! Opening up a new level of diagnostic potential for rare diseases.
My three wishes for the future of rare disease are: leveraging information on modalities other than genetics to improve 1) diagnostic rates 2) treatment options and 3) surveillance and care for people with rare diseases.
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