Research profile

Position: Full professor and principal investigator, chair ‘Molecular Biology of Ciliopathies’

Publications: Pubmed

Contact: Ronald.Roepman@radboudumc.nl

I studied Biology (Molecular Biology and Industrial Microbiology) at Wageningen University in The Netherlands. In 1994, I joined the lab of Frans Cremers at the department of Human Genetics of the Radboud University Medical Center in Nijmegen to study the molecular genetics basis of X-linked retinal degeneration, co-supervised by Wolfgang Berger and Hilger Ropers. This work in the pre-Human Genome Project era, was successfully completed in 1996 with the cloning of the XLRP3 gene (RPGR). The challenges and opportunities in this project sparked my fascination and passion for research. In 1997, I went to the USA to learn from Paulo Ferreira at the Medical College of Wisconsin how to study the function and dysfunction retinal proteins by biochemical approaches. I returned to Nijmegen for a post-doc with Frans Cremers, where I combined biochemical and cell biological tools with yeast two-hybrid approaches to dissect the function of many newly cloned retinal disease genes. Shared research interests with Marius Ueffing (then in Munich) led to a research fellowship at his lab in 2005 to develop affinity proteomics tools and initiate a long-lasting fruitful collaboration. Most of the retinal disease-associated proteins I studied (RPGR, RPGRIP1, RPGRIP1L, NPHP4, USH2A, Lebercilin) turned out to localize to the sensory primary cilia of photoreceptors, and the mutations in the cognate genes often showed a broader phenotypic spectrum due to defective cilia in multiple organs: the ciliopathies. Fuelled by many international collaborations, including EVI-GenoRet (2005-2009), SYSCILIA (2010-2015), FFB/Photoreceptor Proteostasis (2017-2022), and most recently, SCilS (2020-2023), I developed an efficient systems biology/medicine pipeline to efficiently map interacting protein modules of cilia, and provide insights into its dynamic changes upon genetic mutation and therapeutic modulation. We also employ whole exome and whole genome sequencing of ciliopathy patients, in close collaboration with geneticists at the Genome Diagnostics and Clinical Genetics divisions in Nijmegen, and many ciliopathy geneticists worldwide. This has yielded many new candidate genes for ciliopathies, and provided important new insights into the associated disease pathogenesis, especially regarding retinal, renal, skeletal, and neuronal ciliopathies.

Personal touch

Next to my passion for science, I enjoy long hikes (my yearly preparation for the Four Days Marches), photography, and cooking.