Alexander Hoischen PhD

Alexander Hoischen assistant professor

I obtained my PhD in 2008 on “Establishment and application of array-CGH in clinical genetics and tumor genetics” with 'summa cum laude' from the Rheinische Friedrich-Wilhelms University Bonn, Germany. Throughout my young career I have been fascinated use newest technologies to solve clinical research questions. The possibility to identify the genetic cause of human diseases was therefore always a hallmark of my motivation. I have been the first identifying a dominant de novo Mendelian disorder by exome sequencing (Hoischen et al. NatGenet 2010). Similar approaches have resulted in the identification of many disease genes for rare diseases with a focus on developmental disorders. In 2011 I received my first personal grant (NWO-VENI) entitled 'NOVEL – De NOvo genetic Variants in Embryonic development and early Lethality‟. In 2013 I spent 6 months as a visiting scientist in the renowned Department of Genome Sciences (University of Washington, Seattle, USA) and worked in the groups of professors Eichler and Prof. Dr. Shendure. Here I learned the latest technology for accurate and large scale targeted re-sequencing (smMIPs). After my return I established the smMIP technology in Nijmegen. I just received the price for the best presentation at the Annual German Society of Human Genetics (3/2016) for my work on “Ultra-sensitive mosaic mutation detection for clinical applications”. Throughout my career I have established and applied latest genomic technologies which were successfully used in the research of rare diseases, e.g. WES (Hoischen et al. Nat Genet 2010; Hoischen et al. Nat Genet 2011); and MIPs (Ockeloen et al. GiM 2016; Acuna-Hidalgo et al. AJHG 2017; Arts et al. Nat Comm 2017); but importantly were subsequently transferred to routine diagnositcs and are still used as diagnostic tools, e.g. WES (de Ligt et al. NEJM 2012); and MIPs (Neveling et al. Clin Chem 2016; Weren et al Hum Mut 2017; Eijkelenboom et al J Mol Diagn). Since 2013 I am independent research group leader/PI; heading the ‘Developmental Genomics’ 2013-2016. To expand on my interest in the genetics of immune diseases (e.g. van de Veerdonk, Plantinga, Hoischen et al. 2011 NEJM); my research group is called ‘Immuno-Genomics’ since January 2017, with a 50% affiliation each at the Department of Internal Medicine and Human Genetics. In the last years I have shown that applications of novel and disruptive technologies will allow new scientific insights and rapid translation into clinical and diagnostic practise at unprecedented speed.

Personal prizes & awards national & international

• 2016: GfH-Vortragspreis (annual price for best lecture at the annual meeting) for the presentation entitiled ‘Ultra-sensitive mosaic mutation detection for clinical applications’ (€1000,-)
• 2012: NCMLS award for breakthrough paper of 2011. For: van de Veerdonk FL*, Plantinga TS*, Hoischen A*, et al. 'STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis'. N Engl J Med, 7;365(1):54-61, 2011. *shared first author (€200,-)
• 2011: GfH (German Society of Human Genetics) poster price 'Disease Gene Identification by exome sequencing' (€500,-)

Additional functions

• 2017 - present: Co-organizer and Faculty member of the “European School of Genetic Medicine (ESGM)/ESHG - Clinical Genomics and NGS course”, Bertinoro, Italy.
• 2015 - present: Head of scientific poster award committee of the European Society of Human Genetics (ESHG).
• 2013 - present: Co-organizer and Faculty member of the “Genetica Retreat Rolduc”.