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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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Japan


Kyoto


Kyoto University - Center for iPS Cell Research and Application (CiRA) - Department of Cell Growth and Differentiation

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

Dr. Tsumaki's team focuses on basic research for bone and cartilage diseases using induced Pluripotent Stem Cells (iPS). Regarding achondroplasia, they research mainly on the mechanisms that control chondrocyte differentiation and proliferation, on the mechanisms through which skeletal dysplasias are caused, searching for drug candidates for these diseases.

Most recent publications regarding achondroplasia:

  1. Yamashita, A., et al., Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature, 2014. 513(7519): p. 507-11. Available here

Nagoya


Nagoya University Graduate School of Medicine - Musculoskeletal and Cutaneous Medicine - Orthopaedics/Rheumatology

Principal Investigator: Naoki Ishiguro
Contact: Hiroshi Kitoh
E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it. 

Regarding achondroplasia, Dr. Ishiguro's team focuses on drug repositioning for this disease, for which they identified meclozine, which is sold over-the-counter for motion sickness treatment.

Most recent publications regarding achondroplasia:

  1. Matsushita, M., et al., Clinical dosage of meclozine promotes longitudinal bone growth, bone volume, and trabecular bone quality in transgenic mice with achondroplasia. Sci Rep, 2017. 7(1): p. 7371. Available here.
  2. Matsushita, M., et al., Low bone mineral density in achondroplasia and hypochondroplasia. Pediatr Int, 2016. 58(8): p. 705-8. Available here
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