For rare genetic diseases, such as Fabry disease, have more complex manifestations of disease onset associating age and gender that impact patient early diagnosis and treatment decision. Biomarker assays are pivotal to ensure patients’ medical interventions for safety and effectiveness, however traditional assays have limitation of sensitivity and specificity. This presentation will discuss the difference of isolation methods either using the KingFisher™ automation or manual isolation would contribute the variation of miRNA biomarker candidates in NanoString nCounter® miRNA detection assay. These miRNA biomarkers could lead to similar Fabry associated gene pathways in a gene enrichment analysis using miRWalk. This result reflect the complexity of biological context in studying rare diseases biomarker.
Learning Objectives:
Understand the complexity of biomarkers in the rare genetic disease progression, recognize age and gender impact, and aware the challenges of these complexities pose for early diagnosis and treatment decisions.
Potential use of highly selective and specific analytical platforms, such as NanoString nCounter in clinical biomarker detection and its pros and cons.
Aware of the sample preparation variations and how to tackle these variations.
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