Detection of disease-associated variations in DNA methylation profiles holds significant potential for diagnostic and research applications. Analysis can however be problematic; samples are often sparse and degraded, making analysis using platforms such as microarrays challenging. This frequently compromises generation of valuable information. To overcome this we have developed ‘MS-MIMIC’ to identify then reliably analyse DNA methylation profiles with robust clinically-applicable assays. The technique has now been successfully applied to molecular subgrouping of paediatric medulloblastoma cases.

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Schwalbe_Ed


Ed Schwalbe

PhD, Senior Lecturer in Bioinformatics and Biostatistics, Northumbria University, Newcastle upon Tyne, UK

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Ed has worked on the childhood brain tumour medulloblastoma for >10 years. He led the development of the MS-MIMC assay for the routine assessment of diagnostic DNA methylation signatures. His research interests include the development of translational assays that bring research findings into routine clinical use.

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