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About
We focus on the application of the latest genomic technologies to understand human disease. A particular emphasis is put on the understanding of genetic defects that explain rare disease specifically immune diseases, such as inborn errors of immunity (IEIs).
Research group leader
prof. dr. Alexander Hoischen
Aims
Our group works on the genomics and genetics of many rare diseases a.k.a. Mendelian disorders by standard next generation sequencing (NGS) approaches we pioneered such as exome sequencing and genome sequencing.
Recent efforts include applications of innovative long-read approaches, that allow a more complete assessment of a patient’s genome, including long-read sequencing and optical genome mapping.
A particular focus in our group is the identification of the genetic basis of immune diseases, with the most recent identification of a novel immunodeficiency that predisposes men to severe COVID-19, and a missing SCID gene.
We have been strongly involved in the EU-funded H2020 project SOLVE-RD and have received a NWO/ZonMW 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.
