Aims

The recent identification of human mutations in sensory and developmental diseases have revealed the cilium – a slender cellular protuberance first reported in 1835 by Purkinje & Valentin, and for 150 years little more than an object of curiosity – to be a major hotspot for human diseases (now termed “ciliopathies”). With this rebirth have come astonishing revelations and a new chapter in biology: we now know that humans critically depend on correct ciliary function in many organs, allowing us to see, hear, smell, breathe, excrete and reproduce. This is meticulously orchestrated by a dynamic interplay of about 1,000 proteins that are localized in the basal body and/or microtubule-based axoneme of the cilium. Mutations in these proteins may disrupt ciliary processes, but the phenotypical outcome depends on the importance of these proteins as part of a molecular machine, at a specific time, in a specific tissue.

Our challenging research goal is to molecularly characterize the disease pathogenesis of this relatively new group of hereditary diseases. It is our aim to generate detailed parts lists of the molecular machines that are active in the cilia, and identify either their structural role in the cilium, or their role in the signaling pathways that are dependent on/directed by cilia. We are following a systems biology-based approach, moving from identification of new ciliopathy genes, to identifying the interaction repertoire of ciliopathy-associated proteins, and eventually generating and testing computational models of the ciliary molecular machine in health and disease.

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Research Roepman - Molecular biology of ciliopathies

About this research group

This group aims to generate detailed parts lists of the molecular machines that are active in the cilia, and identify either their structural role in the cilium, or their role in the signaling pathways that are dependent on/directed by cilia.

Research group leader

prof. dr. ir. Ronald Roepman

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Aims

It is our aim to generate detailed parts lists of the molecular machines that are active in the cilia, and identify either their structural role in the cilium, or their role in the signaling pathways that are dependent on/directed by cilia. read more

Techniques

  • We employ next-generation sequencing techniques to identify pathogenic variations in ciliopathy patients
  • Bioinformatic tools are used to organize the experimental proteomics results into relational networks
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Techniques

  • We employ next-generation sequencing techniques to identify pathogenic variations in ciliopathy patients
  • Bioinformatic tools are used  to organize the experimental proteomics results into relational networks. The functional features of these networks are analyzed by using (quantitative) proteomics and cell-based assays
  • We use cultured ciliated cells as well as model organisms such as mice, zebrafish and Drosophila. Analysis of the complex interplay of these ciliary protein networks in health and disease will provide essential knowledge of the molecular basis of ciliopathies, which will pave the way for development of therapies

Collaborations

Many of our collaborations exist as part of a 7th Framework Programme of the EC 'SYSCILIA', taking a Systems Biology approach to dissect cilia function and its disruption in human genetic disease. go to SYSCILIA

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