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Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
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Czech Republic


Brno


Masaryk University - Faculty of Science - Department of Experimental Biology - ReACH

Principal Investigator: Pavel Krejci
E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it. 

Dr. Krejci's team focuses on the functions and mechanisms of FGFR3 in achondroplasia, including signaling, regulation, molecular mechanisms and biochemistry of FGFR3. Their current projects include: characterizing the composition of signaling complexes that activate with FGFR3 activation, their nature, and what they do to cause the effects associated to them, and the mechanisms with which FGFR3 mediates chondrocyte differentiation. They also work on treatments for achondroplasia, such as the C-natriuretic peptide (CNP), which was identified by them and on which they collaborate with BioMarin Pharmaceuticals.

Most recent publications regarding achondroplasia:

  1. Balek, L., et al., ARQ 087 inhibits FGFR signaling and rescues aberrant cell proliferation and differentiation in experimental models of craniosynostoses and chondrodysplasias caused by activating mutations in FGFR1, FGFR2 and FGFR3. Bone, 2017. 105: p. 57-66. Available here.
  2. Fafilek, B., et al., Statins do not inhibit the FGFR signaling in chondrocytes. Osteoarthritis Cartilage, 2017. 25(9): p. 1522-1530. Available here
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