Sebastian M. Waszak is a Tenure Track Assistant Professor at the École Polytechnique Fédérale de Lausanne and an Associate Adjunct Professor at the University of California, San Francisco. His research group focuses on biomedical data science for children and young adults with brain tumours.
He obtained his PhD in Bioengineering and Biotechnology from the École Polytechnique Fédérale de Lausanne and specialized as an EMBO and SNSF postdoctoral fellow in cancer genomics at the European Molecular Biology Laboratory.
He studies the genetic and molecular architecture of pediatric brain tumours, develops novel technologies for rapid and longitudinal diagnostics in pediatric neuro-oncology, and studies the evolution of pediatric-type diffuse gliomas in response to targeted therapies.
He published over 80 peer-reviewed articles (h-index 44; 12,000 citations), with first/senior author publications in Science (2013), Cell (2015), The Lancet Oncology (2018), Nature (2020a, 2020b), Clinical Cancer Research (2021), and the Journal of Clinical Oncology (2020, 2024). He discovered novel disease mechanisms and introduced novel disease entities – ELP1-associated and GPR161-associated medulloblastoma – to the 5th edition of the WHO Classification of Central Nervous System Tumors (2021) and the WHO Classification of Genetic Tumor Syndromes (2023) reference books. His integrative genomic studies revealed a high burden of genetic tumour syndromes among pediatric patients with SHH-medulloblastoma (4 out of 10 patients affected), novel prognostic genomic biomarkers in pediatric-type low-grade glioma (rare/novel KIAA1549::BRAF gene fusion breakpoints) and diffuse high-grade glioma (H3K27M/MAPK-altered DMG), and novel predictive biomarkers of upfront radiotherapy response in H3K27-altered diffuse midline glioma (somatic TP53 mutations).
His research resulted in revised clinical practice guidelines (AWMF, EANO-EURACAN, NCCN, NSW eviQ, NCI PDQ, AACR CPWG) and amendments to clinical trial protocols (eg, novel genetic registry in SIOP 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 for genetic predisposition research in the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Project (Nature 2020a). 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).