Alexander Hoischen

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11:30 - 11:50 "Long-read genomic technologies for rare disease research." 

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Alexander Hoischen’s research group ‘Genomic Technologies and Immuno-Genomics’ (https://www.radboudumc.nl/en/immuno-genomics; https://www.immuno-genomics.com/) has expertise in the identification of rare disease genes using 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. In recent efforts, our team applies long-read sequencing and ultra-long-read optical genome mapping to unsolved rare disease cases and other clinical challenges [6-11].

After we applied latest genomic technologies successfully in the research of rare diseases, e.g. WES [e.g.:1-5]; and MIPs [e.g.:12-15]; these were subsequently integrated into routine diagnostics, e.g. WES [e.g.:16-18]; and MIPs [19-20]. My research group now focuses on the genetic basis of immune diseases [e.g.:21-23], with the most recent identification of a novel immunodeficiency that predisposes men to severe COVID-19 [23].

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 and an Associate Professorship at the Radboud University Medical Center from 2019 onwards.

 

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.) Jansen S, Hoischen A, et al. Eur J Hum Genet. 2017 Dec 5. 13.) Ockeloen CW et al. Genet Med. 2016 Nov;18(11):1158-1162. 14.) Acuna-Hidalgo R, […] Hoischen A. Am J Hum Genet. 2017 Jul 6;101(1):50-64. 15.) Arts P, et al. Nat Commun. 2017 May 5;8:15190. 16.) de Ligt J, et al. N Engl J Med. 2012 Nov 15;367(20):1921-9. 17.) Gilissen C et al. Nature. 2014 Jul 17;511(7509):344-7. 18.) Arts P et al. Genome Med. 2019 Jun 17;11(1):38. 19.) Neveling K et al. Clin Chem. 2017 Feb;63(2):503-512. 20.) Eijkelenboom A, et al. J Mol Diagn. 2016 Nov;18(6):851-863.  21.) van de Veerdonk FL, Plantinga TS, Hoischen A, et al. N Engl J Med. 2011 Jul 7;365(1):54-61.  22.) Arts et al. J Allergy Clin Immunol. 2016 Sep;138(3):895-898.  23.) van der Made CI, et al. JAMA. 2020 Jul 24;324(7):1–11