Alexander Hoischen
Alexander Hoischen’s heads the research group ‘Genomic Technologies and Immuno-Genomics’ (https://www.radboudumc.nl/en/immuno-genomics; https://www.immuno-genomics.com/) that builds expertise in the identification of rare disease genes using latest genomics tools. We have been the first identifying a disease causing dominant de novo mutation for a Mendelian disorder by exome sequencing [1] followed by several disease gene discoveries [2-5]. Recent efforts include applications of long-read sequencing and optical genome mapping to undiagnosed rare disease cases [6-11]. A new focus are the genetic basis of immune diseases [e.g.:12-15], with the most recent identification of a novel immunodeficiency that predisposes men to severe COVID-19 [14], and a missing SCID gene [15].
I currently co-lead a work package in the EU-funded H2020 project SOLVE-RD (www.solve-rd.eu), and have received a VICI grant “SOLVE-IEI - Solving Enigmas of Undiagnosed Inborn Errors of Immunity”. With this support and together with our network we pioneer novel and disruptive technologies that allow new scientific insights and rapid translation into clinical and diagnostic practice.
References: 1.) Hoischen A et al. Nat Genet. 2010 Jun;42(6):483-5. 2.) Acuna-Hidalgo R et al. Am J Hum Genet. 2014 Sep 4;95(3):285-93. 3.) Hoischen A, Krumm N, Eichler EE. Nat Neurosci. 2014 Jun;17(6):764-72. 4.) Hoischen A, et al. Nat Genet. 2011 Jun 26;43(8):729-31. 5.) van Bon BW, et al. Am J Hum Genet. 2012 Jun 8;90(6):1094-101. 6.) Pauper M, et al. Eur J Hum Genet. 2020 Nov 30. 7.) Mantere T, Kersten S, Hoischen A. Front Genet. 2019 May 7;10:426 8.) Mantere et al. Am J Hum Genet. 2021 Aug 5;108(8):1409-1422 9.) Neveling et al. Am J Hum Genet. 2021 Aug 5;108(8):1423-1435 10.) Sabatella et al. J Pathol. 2021 Oct;255(2):202-211 11.) Kucuk et al. Genome Med. 2023 May 8;15(1):34. 12.) van de Veerdonk FL, Plantinga TS, Hoischen A, et al. N Engl J Med. 2011 Jul 7;365(1):54-61. 13.) Arts et al. J Allergy Clin Immunol. 2016 Sep;138(3):895-898. 14.) van der Made CI, et al. JAMA. 2020 Jul 24;324(7):1–11. 15.) van der Made CI, et al. AJHG. 2024 online.