Alex Hoischen


Alex Hoischen, Associate Professor of Genetics at Radboud University Medical Center in the Netherlands

Alexander Hoischen’s research group ‘Genomic Technologies and Immuno-Genomics’ (https://www.radboudumc.nl/en/immuno-genomics) has expertise in the identification of rare disease genes using the latest genomics tools – since recently with a particular focus on immune-related disease genes. We have been the first identifying a disease causing dominant de novo mutation for a Mendelian disorder by exome sequencing [1] followed by the identification of several disease genes for rare diseases [2-5]. Following a six months’ research stint in 2013 in the laboratories of my collaborators Prof. Eichler and Prof. Shendure (UW, Seattle; USA), I established the latest technology for accurate and large scale targeted re-sequencing (smMIPs) in Nijmegen. Recently we started to apply long-read sequencing and long-read mapping to unsolved rare disease cases [6-7].

After we applied latest genomic technologies successfully in the research of rare diseases, e.g. WES [e.g.:1-5]; and MIPs [e.g.:8-11]; these were subsequently integrated into routine diagnostics, e.g. WES [e.g.:12-14]; and MIPs [15-16]. My research group now focuses on the genetic basis of immune diseases [e.g.:17-18], with the most recent identification of a novel immunodeficiency that predisposes men to severe COVID-19 [19].

In the last years, we have shown that applications of novel and disruptive technologies allows new scientific insights and rapid translation into clinical and diagnostic practice at unprecedented speed. As part of my role in rare disease genomics, I co-lead a work package in the EU-funded H2020 project SOLVE-RD (www.solve-rd.EU). I was also awarded the full PI status at the Radboudumc from 2019 onwards. Listen to the interview with Alex (published July 2021) https://mendelspod.com/podcasts/studies-are-%E2%80%94optical-mapping-can...



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