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Raquel Fonseca
ESR-8
Topic:
Molecular profiling of brain cancer biopsies in highly characterised patients
Supervisor:
Prof Sebastian Brandner, University College London, United Kingdom
Raquel was born in Portugal, where she obtained her degree from the University of Coimbra, majoring in Biochemistry. Her Master’s project described metabolic and behavioral alterations associated with methamphetamine abuse. As a graduate student, she was awarded an international fellowship for a 6-month research internship at Massachusetts General Hospital, in Boston, USA, studying Friedreich's ataxia. Followed 2 years as a Research Technician at the Dana-Farber Cancer Institute (Harvard Medical School), focusing on Small Cell Lung Cancer. She is passionate about neurosciences and cancer biology and believes in the importance of finding novel biomarkers for early diagnosis of devastating diseases, such as glioma.
The main objective of ESR-8 is the profiling of low-grade gliomas (mostly IDH mutant astrocytomas and oligodendrogliomas) and tumours progressing from these entities as well as primary glioblastomas. Clinical and imaging data will be available for all tumours that undergo surgery at the NHNN. Fresh frozen material or FFPE embedded samples will be used for DNA extraction, methylation array assessment. This will be complemented by engineering and analysis of mouse models of gliomas using CRISPR Cas9 technology, to introduce mutations detected in progressing astrocytomas. A subset of experimental and human tumours will undergo Exome sequencing and miRNA arrays to identify and validate novel biomarkers. These will be correlated with markers discovered in ESR-6. Selected, highly significantly differentially regulated genes will be validated by qPCR, RT-PCR or IHC. Links to ESR-7.