Me and my research group ‘Genomic Technologies for Immune-mediated and Infectious Diseases’ (https://www.immuno-genomics.com/) at the Radboud University Medical Center (Radboudumc) have made significant contribution by pioneering genomic technologies across many rare diseases, with a particular focus ion rare immune diseases. I have focused on developing novel genomic approaches for studying rare genetic diseases (RD) and translating these technological innovations into clinical applications, including the early adoption of exome sequencing and subsequent pioneering of long-read genome sequencing and optical genome mapping (OGM). Consequently, our institution is one of the first globally, to use long-read genome sequencing as a first tier generic assay across all rare diseases (launched Oct 2025, aim in 1st year 5,000 clinical long-read genomes).

My current research is focused on immunology and rare immune-mediated and infectious diseases, with a major aim to discover new Inborn Errors of Immunity (IEI). My work led to the discovery of the X-linked TLR7 deficiency that predisposes to severe COVID-19.

I am involved in international rare disease programs, most prominently I led a work-package for Solve-RD (H2020), followed-up by an ERDERA work-package lead (2024-2031). I am also supported by a ZonMW VICI grant (NWO, 1.5M€, 5 years, 2024-2029), which will strengthen innovative science for immune diseases. I also serve as the Chief-Innovation officer of the Departments of Human Genetics (Radboudumc & Maastricht UMC+).