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 Biotechnology & Bioengineering from the École Polytechnique Fédérale de Lausanne. He specialized as an EMBO-SNSF postdoctoral fellow in cancer genomics at the European Molecular Biology Laboratory.
He authored 83 papers in genome research, cancer research, and computational biology with 20 first/senior author publications (h-index 51; 20,252 citations). His 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 to study the genetic and genomic landscape of gliomas in children and young adults.
His primary research led to the discovery of novel genetic brain tumour syndromes (ELP1, GPR161, TRAF2), novel disease mechanisms (mcm5s2 U34 tRNA modification deficiency in SHH-activated medulloblastoma), novel molecular subtypes of pediatric gliomas (H3K27M/MAPK-altered diffuse midline glioma, supratentorial pilocytic astrocytoma with novel KIAA1549::BRAF fusion breakpoints), and genomic biomarkers of therapy response in diffuse midline glioma (J Clin Oncol 2019, Nature 2020a, Clin Cancer Res 2021, Cancer Discovery 2023, J Clin Oncol 2023, Acta Neuropath 2023, Acta Neuropath Comm 2024).
He studied the genetic architecture of somatic mutation patterns using systems-genetics approaches and the integration of patient and cancer genomes. He discovered elevated rates of somatic CpG mutagenesis in patients with inherited or acquired mutations in DNA repair genes (MBD4, MSH2, and MSH6), common genetic variants that enhance somatic APOBEC3B-mediated mutagenesis in cancer, novel patterns of genome instability in BRCA1-deficient tumours, and somatic signatures of genetic tumour syndromes in childhood brain tumours (The Lancet Oncol 2018, Nature 2020b, Mol Syst Biol 2024).
He contributed and introduced novel disease entities to the 5th edition of the WHO Classification of Central Nervous System Tumors (2021) and the WHO Classification of Genetic Tumor Syndromes (2023). His research led to revised national and international clinical practice guidelines (incl. AWMF, EANO-EURACAN, NCCN, NSW eviQ, NCI PDQ, AACR CPWG, ESCP MB, SIOPE). He is a member of the Pediatric Neuro-Oncology Consortium (PNOC), the Trans-Atlantic Pediatric DMG/DIPG Tumor Board, and the DIPG/DMG National Brain Tumor Board. He is a principal investigator for genomic research in early-phase clinical trials focused on targeted therapies for pediatric glioma patients (eg, PNOC001, PNOC003). He was the lead scientist within the germline working group of 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), and the CBTN Global Inclusion Award (2022).