Alexander Hoischen, PhD

Alexander Hoischen, PhD

“Alexander Hoischen, PhD has expertise in the identification of rare disease genes using latest genomics tools – since recently with a particular focus on immune disease genes. His research group ‘Genomic Technologies and Immuno-Genomics’ have been the first identifying a disease causing dominant de novo mutation for a Mendelian disorder by exome sequencing followed by the identification of several disease genes for rare diseases. Following a six months’ research stint in 2013 in the laboratories of his collaborators Prof. Eichler and Prof. Shendure (UW, Seattle; USA), he established the latest technology for accurate and large scale targeted re-sequencing (smMIPs) in Nijmegen. Recently they started to apply long-read sequencing and long-read mapping to unsolved rare disease cases. After they applied latest genomic technologies successfully in the research of rare diseases, these were subsequently integrated into routine diagnostics. His research group now focuses on the genetic basis of immune diseases. In the last years they have shown that applications of novel and disruptive technologies allows new scientific insights and rapid translation into clinical/diagnostic practice at unprecedented speed. As part of his role in rare disease genomics he co-lead a work package in the EU-funded H2020 project SOLVE-RD. He was also awarded the full PI status at the Radboudumc from 2019 onwards.