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.



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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