Alexander Hoischen PhD

Alexander Hoischen associate professor

Alexander Hoischen is affiliated with the department of Human Genetics and the department of Internal Medicine of the Radboudumc, and operates within the Radboudumc research theme Infectious diseases and global health. He and his research group are fascinated by the application of latest genomics technologies to understand the genetic basis of rare (immune) disorders. He is also the Scientific Director of the Radboud Technology Center Genomics.

Technological advances summarized as next generation sequencing (NGS) have changed human genetics dramatically in the last 15 years. For the first time we can read the genome, or the coding portion of the genome a.k.a. the exome, of many individuals; and this has changed the research and diagnostics of human diseases, in particular rare diseases. In addition, novel NGS-based approaches allow to read DNA with much improved accuracy allowing somatic mutation detection in an unprecedented way.

Our group has been involved in several discoveries of novel rare disease genes, with a recent focus on rare immunological diseases. We however face the challenge that in a large proportion of patients (30-80% depending on disease) with a likely rare genetic disease remains unexplained even after exome sequencing. Within the group ‘genomic technologies and immuno-genomics’, we aim to establish novel –omics methods and integrate the novel –omics data with existing data to boost the discovery of genetic causes of (rare (immunological)) diseases.

Within our group and together with our collaborators we envision novel themes that all go ‘beyond the exome’ and will ultimately improve (rare) disease genetics in research and diagnostics. Specific focus will be on: 1. Better analyses of existing exomes and move to genomes, 2. long-read genomes, 3. integration of the effect of rare and common variants, 4. integration of transcriptomics and genomics (and other –omics), 5. more accurate sequencing for somatic mutation detection, 6. early adoption of latest technologies for the benefit of immunology, pathology, and genetics.

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”.