Therapy for achondroplasia

Some 250,000-300,000 people all over the world suffer from achondroplasia – a genetic disorder which results in dwarfism. Patiens with this disease have shorter arms and legs and enlarged head and their life expectancy is about 10 years less than average. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and may be inherited or caused by as yet not sufficiently known factors.

Our team CS (Cell Signalling) focuses on unravelling mechanisms of signaling of selected protein kinases such as receptor tyrosine kinases which are a major molecular tools for cell-to-cell communications, with the aim to discover the mechanisms by which receptor tyrosine kinases interact with primary cillia and morphogene signalling and the molecular pathologies of skeletal disorders caused by mutations of receptor tyrosine kinases. This would enable the team and its partners to find cure for achondroplasia. Collaboration with a U.S. company has resulted in so-far successfully running human trials of a therapy.

CS team profile

Case studies


Pediatric Oncology Translational Research Group

Help to childhood cancer survivors

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Team CS

Cell Signalling Research Group

Therapy for achondroplasia

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FNUSA-ICRC YEAR 2018 OVERVIEW (selected results)

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