An increasing number of human genetic diseases are found to be caused by the disruption of proteins that localize to cilia; together these diseases are named ciliopathies. The cilium is of vital important form renal structure and function, which explains why in many of these ciliopathies the kidney is severely affected. Several cilia-related genes and proteins have been identified to have causal effects in polycystic kidney disease, nephronophthisis, Senior-Loken syndrome type 5, orofaciodigital syndrome type 1 and Bardet-Biedl syndrome.

By combining next generation sequencing, systems biology approaches and biochemical analysis, researchers within the Renal Disorders theme aim to identify new key players in renal cilliopathies and to further elucidate the molecular mechanisms involved in these disease phenotypes.

Ciliopathies

Human genetic diseases causing disruption of proteins that localize to cilia are studied.

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Ciliopathies

An increasing number of human genetic diseases are found to be caused by the disruption of proteins that localize to cilia; together these diseases are named ciliopathies. The cilium is of vital important form renal structure and function, which explains why in many of these ciliopathies the kidney is severely affected. Several cilia-related genes and proteins have been identified to have causal effects in polycystic kidney disease, nephronophthisis, Senior-Loken syndrome type 5, orofaciodigital syndrome type 1 and Bardet-Biedl syndrome.

By combining next generation sequencing, systems biology approaches and biochemical analysis, researchers within the Renal Disorders theme aim to identify new key players in renal cilliopathies and to further elucidate the molecular mechanisms involved in these disease phenotypes.