Ueffing Lab

Molecular Biology of Retinal Degenerations

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Ciliopathies

Single cilium on cell surface marked in green. (© Bolz)

Research in cilia biology attracted great interest within the last decade. This long forgotten organelle was considered to be a rather useless appendix of the cell until it became evident that malfunction of cilia can cause a wide variety of syndromic and non-syndromic disorders, the so-called ciliopathies. Most ciliopathies are syndromic disorders (i.e. Bardet-Biedle-Syndrom,  Joubert Syndrome) but there are also forms that are restricted to a single organ like Leber congenital amaurosis (LCA) which is purely restricted to the eye. Although not all LCA forms are caused by defects in ciliary proteins, a large subset of these could be shown to localize to the connecting cilium of photoreceptors. Additionally, we could demonstrate that a subset of LCA cases is caused by the disruption of ciliary transport mechanisms (Intraflagellar transport, IFT) which results in the degeneration of the light-receptive outer segments of photoreceptors.

To increase our understanding of the mechanisms, leading to disease, we aim to the understanding of basic ciliary mechanisms like IFT but also signaling pathways, originating at the cilium which acts as sensory organelle on various cell types in the human body. To achieve this, we apply state-of-the-art technology like high-resolution, quantitative mass spectrometry and affinity purification for the identification of novel functional modules and to characterize those in detail. Further we aim to understand the molecular mechanisms, caused by disease associated variants and ultimately leading to disease.

For further information (in German) on the approach taken in the Ueffing lab to develop an understanding and rational therapies for ciliopathies, please download the article "Systembiologie als Ansatz zur Erforschung und Therapie von Ciliopathien" as a pdf document.

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