Sebastian M. Waszak is a Tenure Track Assistant Professor of Life Sciences at the École Polytechnique Fédérale de Lausanne and an Associate Adjunct Professor of Neurology at the University of California, San Francisco. He performed his graduate research in systems genetics and obtained his PhD in Bioengineering & Biotechnology from the École Polytechnique Fédérale de Lausanne. He specialized as an EMBO-SNSF postdoctoral fellow in cancer genomics at the European Molecular Biology Laboratory.
His current research aims to advance inter- and intra-operative diagnostics in pediatric neuro-oncology based on novel technologies and computational methods, optimize therapeutic decision-making with real-time data in early-phase clinical trials, and identify molecular mechanisms of glioma development in children and young adults (pLGG, pHGG, DIPG/DMG).
He authored over 80 journal papers in genome research, cancer research, and computational biology (h-index 50; >18,000 citations), with first/senior author publications in Science (2013), Cell (2015), The Lancet Oncology (2018), Nature (2020a, 2020b), Clinical Cancer Research (2021), Cancer Discovery (2023), Acta Neuropathologica (2024), Molecular Systems Biology (2024), and the Journal of Clinical Oncology (2020, 2024).
During the past 5 years, his research led to the discovery of novel genetic brain tumour syndromes (ELP1 and GPR161 disorder), disease mechanisms (tRNA modification deficiency in SHH-medulloblastoma), molecular subtypes of pediatric diffuse midline glioma (H3K27M/MAPK-altered diffuse midline glioma), molecular subtypes of pediatric low-grade glioma (supratentorial pilocytic astrocytoma with non-canonical KIAA1549::BRAF fusion breakpoints), and genomic biomarkers of upfront radiotherapy response in H3K27-altered diffuse intrinsic pontine glioma.
He further studied the genetic architecture of somatic mutagenesis in cancer and discovered that MBD4-deficiency or MSH2/MSH6-deficiency predisposes to somatic CpG mutagenesis in cancer, particularly pediatric and adult gliomas. Moreover, his association studies revealed genetic varaints that predispose to APOBEC3B-like mutagenesis across cancer types and novel patterns of genome instability associated with BRCA1/2-deficiency (eg, templated insertions).
He contributed to the latest editions of the WHO Classification of Central Nervous System Tumors (2021) and the WHO Classification of Genetic Tumor Syndromes (2023) reference book series and introduced novel disease entities. His research led to revised national and international diagnostic and clinical practice guidelines (AWMF, EANO-EURACAN, NCCN, NSW eviQ, NCI PDQ, AACR CPWG, ESCP MB, SIOPE PNET 5 MB).
He is a member of the Pacific Pediatric Neuro-Oncology Consortium (PNOC), the UCSF Pediatric DMG Tumor Board, and the DIPG/DMG National Brain Tumor Board. He is a principal investigator for genomic studies in early-phase clinical trials for pediatric glioma patients (PNOC001, PNOC003). He was the lead scientist within the germline working group in the ICGC Pan-Cancer Analysis of Whole Genomes Project (ICGC PCAWG). He received an EPFL Special Distinction Award for his doctoral thesis (2015), the SIB Early Carrer Award (2017), the CBTN Global Inclusion Award (2022), and the SNO Top Poster Award (2023).