Prof. Alex Hoischen
Alexander Hoischen’s heads the research group ‘Genomic Technologies and Immuno-Genomics’ at Radboud University medical center that builds expertise in the identification of rare disease genes using latest genomics tools. This group were the first identifying a disease causing dominant de novo mutation for a Mendelian disorder by exome sequencing followed by several disease gene discoveries. Recent efforts include applications of long-read sequencing and optical genome mapping to undiagnosed rare disease cases. A new focus are the genetic basis of immune diseases, with the most recent identification of a novel immunodeficiency that predisposes men to severe COVID-19, and a missing SCID gene. Alexander currently co-lead a work package in the EU-funded H2020 project SOLVE-RD, and have received a VICI grant “SOLVE-IEI – Solving Enigmas of Undiagnosed Inborn Errors of Immunity”. With this support and together with his collaborative network he pioneers novel and disruptive technologies that allow new scientific insights and rapid translation into clinical and diagnostic practice.